Podcasts about genetic counselors

The field of genetic counseling has exploded over the last decade, with a dizzying array of companies and options. There's nutrigenomics, pharmacogenomics, and genetic testing for Cancer, Alzheimer's, heart disease, preconception, pediatrics, connective tissue disorders, and more. How useful are these, and how can you understand it all? Genetic counselors Natalie Samson and Kimia Sanati will help you navigate it all.    Key Takeaways To Tune In For: (01:26) - Understanding Genetic Testing Options (06:30) - Applications of Genetic Testing (10:48) - Preconception Genetic Testing (15:09) - Understanding Epigenetics (19:11) - The Role of Genetic Counselors (25:14) - Insurance and Genetic Testing Costs   Resources talked about in this episode: Website:  www.goldengeneticshealth.com  

In this Healthful Woman Podcast episode, Dr. Nathan Fox speaks with Author Gila Pfeffer and Genetic Counselor Estie Rose. They discuss important topics around genetic testing, breast cancer prevention, and the role of genetic counseling in women's health. The conversation delves into Gila's personal experience as a breast cancer previvor and advocate, and how her story intertwines with Estie's work as a genetic counselor.

Genetic testing plays a key role in the evaluation of epilepsy patients. With the expanding number of choices for genetic tests and the complexity of interpretation of results, genetic literacy and knowledge of the most common genetic epilepsies are important for high-quality clinical practice. In this episode, Gordon Smith, MD, FAAN speaks Sudha Kilaru Kessler, MD, MSCE, author of the article “Epilepsy Genetics,” in the Continuum February 2025 Epilepsy issue. Dr. Smith is a Continuum® Audio interviewer and a professor and chair of neurology at Kenneth and Dianne Wright Distinguished Chair in Clinical and Translational Research at Virginia Commonwealth University in Richmond, Virginia. Dr. Kessler is an associate professor of neurology and pediatrics at Perelman School of Medicine at the University of Pennsylvania and Children's Hospital of Philadelphia in Philadelphia, Pennsylvania. ADDITIONAL RESOURCES Read the article: Epilepsy Genetics Subscribe to Continuum: shop.lww.com/Continuum Earn CME (available only to AAN members): continpub.com/AudioCME Continuum® Aloud (verbatim audio-book style recordings of articles available only to Continuum® subscribers): continpub.com/Aloud More about the Academy of Neurology: aan.com SOCIAL MEDIA facebook.com/continuumcme @ContinuumAAN  Host: @gordonsmithMD Full episode transcript available here Dr Jones: This is Dr Lyell Jones, Editor-in-Chief of Continuum, the premier topic-based neurology clinical review and CME journal from the American Academy of Neurology. Thank you for joining us on Continuum Audio, which features conversations with Continuum's guest editors and authors who are the leading experts in their fields. Subscribers to the Continuum journal can read the full article or listen to verbatim recordings of the article and have access to exclusive interviews not featured on the podcast. Please visit the link in the episode notes for more information on the article, subscribing to the journal, and how to get CME. Dr Smith: Hello, this is Dr Gordon Smith. Today I've got the great pleasure of interviewing Dr Sudha Kessler about her article on epilepsy genetics, which appears in the February 2025 Continuum issue on epilepsy. Sudha, welcome to the podcast and please introduce yourself to our audience. Dr Kessler: Oh, thank you so much. I'm Sudha Kessler. I am a pediatric epileptologist here at the Children's Hospital of Philadelphia and the University of Pennsylvania. Dr Smith: Tell us a little bit about yourself. Are you a geneticist too, or how did you get into this particular topic? Dr Kessler: Yes, I want to emphatically say that I am not a geneticist. I'm not an expert in epilepsy genetics at all. I take care of all sorts of patients with epilepsy. I actually do mostly epilepsy surgery-related care. But this part of epilepsy is, every year, increasingly important to our everyday practice. And I think it's fascinating, often a little daunting. I think I was asked to get involved with this article as a non-expert to help translate from the experts to the rest of us. Dr Smith: We're going to get there, because one of the things you do a really good job of in the article is talking about genetic concepts that are germane to everything we do. And I think you're an expert. You do it in a way that I understood. So, I'd like to get there, but- and this is a really hot area. For instance, I really loved your figure that shows the arc of discovery of genetic causes for epilepsy. It's really breathtaking, something we wouldn't have thought possible that long ago. And it's also a lot to digest. And so, I wonder if maybe we can begin by thinking about a framework and, for instance, you talk about these different groups of disorders. And one that seems to be particularly impacted by this unbelievable A-rated discovery. Our developmental and epileptic encephalopathies, or DEEs. What can you tell our listeners about that group of disorders? Dr Kessler: Sure. I think that, you know, most of what we think about in epilepsy genetics now has to do with disorders that are attributable to changes in a single gene. Genetics is obviously much more complicated than that, but that's still where we are in the stage of discovery. And the graph in the article is definitely one to take a look at because it represents the explosion that we've had in our understanding of single gene disorders leading to epilepsy and related manifestations. The DEEs are a group of disorders where any individual disorder is fairly rare, but as a group they are not that rare, and very impactful because they often cause epilepsy at a very young age. And either as a consequence of seizures or as a consequence of the underlying pathophysiology of that gene change, they are typically associated with really significant developmental impairments for a child 's entire life. Dr Smith: My understanding is that there's therapeutic development going on in this space. So, the early recognition of these genetic testing offers the promise of very impactful treatment---like we now do for SMA, for instance---early in the disease course. Dr Kessler: I think that's right. That's one of the most exciting parts of this field is that so much, just around the corner, for drug development, therapy development in this area. And as you can imagine, with a lot of these disorders, earlier intervention is likely to be much more impactful than later intervention when a lot of the developmental consequences are sort of… you know, when the cat 's already out of the bag, so to speak. Dr Smith: Yeah. So, this is really transformational and something that everyone who takes care of kids with epilepsy needs to know about, it seems. So on the other extreme, I guess, there are the self-limited epilepsies. I didn't really know about this in terms of genetic discovery, but can you talk about those disorders? Dr Kessler: Yeah, sure. I mean, I think some of these are the classic childhood epilepsy syndromes that we think about like childhood absence epilepsy or what we used to call benign romantic epilepsy and now call self-limited epilepsy of childhood with centrotemporal spikes. It's a mouthful, shortened to SeLECTS. Those are the epilepsies that occur typically in previously healthy children, that affects them for a few years and often remits so that epilepsy is just age-limited and doesn't continue for life. They clearly have genetic influences because they tend to run in families, but the genetics of them is not generally single gene associated. And so, we haven't actually explained why most of those kids actually get epilepsy. I think that'll be sort of another interesting area of discovery that will help us even understand some really fundamental things about epilepsy, like, why does this syndrome start at this age and tend to resolve by adolescence? Dr Smith: And the other thing I found interesting is disorders that I might have thought going into it would have a defined genetic cause or some of the disorders that there are not. So JME, for instance, or childhood absence, which is a little counterintuitive. Dr Kessler: It's completely counterintuitive. We call them genetic generalized epilepsies, and we know that they run in families, but we still know so little. I would say of all of the disorders that are mentioned in this article, that is the group where I think we have explained the genetic underpinnings the least well. Dr Smith: Yeah. Isn't that interesting? It's… wasn't it Yogi Berra who said, it's hard to predict things, particularly the future? So… Dr Kessler: Yes. Dr Smith: Who would have thought? So, we've talked a lot about kids. What about adults? You know, what role does genetic testing play in adults who have unexplained epilepsy? Dr Kessler: Yeah, I think that that is also a really important emerging area of knowledge. I think many epileptologists may think of genetic epilepsy as being solely pediatric. There are definitely not how many of these disorders can manifest for the first time in adulthood. Not only that, many of our children with childhood onset epilepsy that is due to a genetic problem grow up to become adults and will then need adult epilepsy care. In order to take care of both of those groups, it's really important for all epileptologists, including those that take care of adults, to have some knowledge of the potential impact of genetic testing. And how do you even approach thinking about it? Dr Smith: The message I guess I'm getting is if our listeners take care of patients with epilepsy, no matter how old those patients are, they need to be familiar with this. And the other message I'm getting is, it sounds like there are a lot of patients who really need genetic testing. And this came through in one aspect of your article that I found really interesting, right? So, what are the recommendations on genetic testing? So, the National Society of Genetic Counselors, as I understand it, said everyone needs genetic testing, right? Which I mean, they're genetic counselors, so. Which is great. In the International League Against Epilepsy, they recommended a more targeted approach. So, what's your recommendation? Should we be testing anyone with unexplained epilepsy, or should we be focusing on particular populations? Dr Kessler: Well, I guess I think about it as a gradation. There are certain populations that really deserve genetic testing, where it is going to be absolutely critical. You know, it's very likely that it will be critical knowledge to their care. If you diagnose somebody with epilepsy and you do imaging and that imaging does not reveal an answer, meaning you don't see a tumor or you don't see an old stroke or some other sort of acquired lesion, the next pillar of testing for understanding underlying etiology is genetic testing. That is the point at which I typically send my patients, and that's whether they're refractory or not. I think in the past some people felt that only patients with refractory epilepsy deserve or require testing. I think the reason why not to limit it to that population is that what's on a person's mind with epilepsy, or a family's mind with epilepsy, is what's going to happen to my child or to me in the future? And if genetic testing can shed some light on that, that will have a huge impact on that person's life. Dr Smith: You've got great cases in your article, which, I just want to give you a compliment. The information and entertainment, frankly, for per page: off the charts. It's not a long article, packed with useful information. And, I mean, some of your cases are great examples of patients who are heading down the surgical epilepsy path and you discovered, nope, there's a genetic cause that really impacted their care. What's the yield, right? The number of patients that you send genetic testing on for epilepsy, what percentage come back positive for a relevant sequence variant that you think is either causing or contributing to their epilepsy? Dr Kessler: That's a great question. I think that is actually still in flux because it depends on the population of patients that are being sent for testing, obviously, and then also on what testing is being done. So, I know in at least one large recent meta-analysis, the overall yield was 17%. And somebody hearing that number might think, oh, that's not very high, but it's actually very comparable to the yield for imaging. And we all do MRIs and patients that have new-onset epilepsy where the yield of MRI testing is about 20%  or so. So, quite comparable. And then with children with DEEs, the yield is much, much higher than that. Dr Smith: So, 17% is actually a really great diagnostic yield. When I think of my yield and doing genetic testing on patients who have an axonal CMT phenotype, right? I mean that's better than what I get. So, good for you. That's exciting. Dr Kessler: It's interesting. I think that maybe an assumption might be that you're working somebody up. You do a genetic test, it reveals a difference, and thus surgery is off the table. It's actually quite different than the head, which is that some results may make surgery be even more “on the table” because you might find a gene that is known to be associated with a propensity to vocal cortical dysplasia, for example. And you may take a good second look at that person's MRI imaging or do other imaging to reveal the MRI invisible vocal cortical dysplasia. Dr Smith: Outstanding point. Let's talk a little more about the genetic testing itself. So, we've got all these genes. We understand when to test. What do you do? For instance, last night I just looked at the company that we use for most of our neuromuscular testing and they have a genetic epilepsy next gen panel with, I don't know, three hundred and twenty genes, right? Do you use that kind of panel? Do you go directly to a whole EXO? What's the right approach? Dr Kessler: Yeah, I think that that is quite dynamic right now, meaning that recommendations seem to change often enough that I rely on help. I have the enormous good luck of working here at CHOP where there is a fantastic epilepsy genetics group that I can easily refer to, and I know not everyone has that resource. The current recommendation is to start with an exome if that is available and is covered by that patient's insurance. When exome is not available, then the next best thing is a gene panel. You know, in recent years there have been a lot of sponsored gene panels, meaning free to the patient, administered by a company that then, you know, has other uses for compiled or grouped genetic data. And I think that as long as all of that can be clearly explained to a patient, and- along with all of the other things so you have to explain to a patient before doing genetic testing, about the pluses and minuses of doing it, I think that you sort of go for the best test you can that's available to that patient. Dr Smith: The sponsored programs can be very, very helpful, particularly from a payer or a patient payment perspective. And so, I guess the lesson there is it's great if you got the resources and CHOP to help you decide, but better to get whatever panel you can get than to do nothing; or, of course, refer to a center if you're not comfortable. Dr Kessler: And also, just know that these things change often enough that if it's been a couple of years and you might want to recheck whether the EXO is available to that patient or whether a gene panel can be sent that includes more than they had eight years ago. Dr Smith: So, are there situations to go to the other extreme where you just do targeted sanger sequencing? Like, just sequence the specific gene of interest?  Dr Kessler: Yeah, absolutely. I'm still a big proponent of thinking clinically about a patient. If there are clues in that patient's history, exam, imaging, anything that gives you some sense of the disorder that this patient might have. And I think a classic example would be tuberous sclerosis. If you see an infant who has new onset spasms, you see hypopigmented macules on their skin and their MRI shows a tuber, you know, also known as a focal cortical dysplasia, then sure, send the targeted sequencing for the TSC1 and TSC2 genes. Dr Smith: And Rett syndrome?  Dr Kessler: And Rett syndrome would be another example. And there are many examples where, if you feel like you have a good sense of what the disorder is, I think it's completely acceptable to send the targeted testing.  Dr Smith: So, I'm going to get further down the rabbit hole and get to from easier to harder. I always get confused about things like chromosomal microarrays or, like, karyotypes and rings and stuff like that. What role do these tests play and what do our listeners need to know about them? Dr Kessler: Yeah, I think that it is really important to have at least some knowledge of what each test can't tell you. I tell my medical students at my residence that all the time. With anything in medicine, you should know what you're asking of a test and what answers a test can tell you and can't tell you. It is baseline knowledge before requesting anything. And if you don't know, then it's best to ask. So, chromosomal microarray is used when you think that there is a large-scale derangement in a bunch of genes, meaning there is a whole section of a chromosome missing---that would be deletion, or that that information is duplicated or is turned around in a, you know, in a translocation. That is what- the kinds of things that that test can tell you. I think of doing a microarray when a child has not just epilepsy and intellectual disability, but also has, for example, other organ systems involved, because sections of chromosome can include many, many, many different genes and it can affect the body in larger ways. That's often when I think about that. So, a child with multiple congenital anomalies. Karyotype, which we think of as the most old-fashioned way of looking at our genes, still has some utility because it is useful for looking at a specific situation where the ends of arm of a chromosome get cut off and get sticky and then stick to each other and make a ring. For example, ring chromosome 20 is a disorder which can cause epilepsy, particularly hard-to-treat frontal lobe epilepsy, and that sometimes doesn't show up until adolescence or even early adulthood. That's just one example of something that karyotype can tell you.  Dr Smith: And it goes without saying, but just to emphasize, these are things that you would miss completely on a next generation panel or a next genome? Dr Kessler: That's correct. Because this isn't about sequencing. This is about large structures. You know, with my patients, it's sometimes, I think, very hard to explain. It's hard enough to explain it to other physicians who aren't in genetics, but it's a whole other undertaking to explain it to families who may not have a lot of literacy about cell biology or genetics or, you know, anything related to that. So, I often rely on analogies. And one analogy I use is that if you're- all of your genetic information is like a book, that book is split into chapters and those are the chromosomes. And you can be missing entire paragraphs or have paragraphs duplicated. And that would be the kind of thing that we would be looking for with the chromosomal microarray with sequencing or, you know, with sequencing, we're looking for spelling of words, and we can look at one word at a time. That would be targeted sequencing. Or we can look at many, many words at a time. And that would be next gen sequencing.  Dr Smith: I just want to say that you are the genetic whisperer. You know, translator. I love it.  Dr Kessler: You can continue using it down to the level of explaining the possibility of a variant of unknown significance, which I think is sometimes difficult to explain. So, I often will say, I know how the word color is spelled: C O L O R. But sometimes in other places it will be spelled C O L O U R and that's still the same word, that's still color. That's just what we would call a population variant. If it is spelled C O M O R, that changes meaning; that is not a word, and that is probably a pathogenic variant. But if it gets misspelled and it's K O L O R, then I'm not sure. Could that be a variant that means something different or not. And so that I would call that a variant of unknown significance, meaning its impact is to be determined. Dr Smith: So, I was going to ask you about variant calling, but you'd beat me to the punch. And that's a great metaphor that I will definitely remember. All right, here's another concept that I think people often find challenging, which is read depth. Can you tell us about reading depth or sequence depth?  Dr Kessler: Yes, hopefully I can. Again, not an expert here, but as I understand it, the way next gen sequencing works is that pieces of DNA are getting read. And the number of times any given nucleotide is read in this process is the read depth. It basically just translates to the number of times the processor, the machinery of doing this, pays attention to anyone site. The reason it's important is that the process by which this reading is done can sometimes result in errors. The greater your depth, the more times something is read, the less likely you are to have a mistake.  Dr Smith: In either direction. So, you're presumably less likely to have a false positive or false negative. Yep, again, very well explained. You know, I've got a lot of other questions I want to ask you, but I do want to be respectful of our listeners' time. I wonder if we could pivot a little bit and just let's go back to where we began. Really exciting time, right? Amazing. And you've been doing this long enough. I'm sure you didn't think when you started that it was going to look like this. What does the future look like? I mean, we talked a little bit about therapeutics, but the world's changing fast. Five, ten years from now, what's your hope for that?  Dr Kessler: Oh, that's such a great question. You know, we are at the point with genetic epilepsies that gene-based therapies, either antisense oligonucleotide-based therapies or viral vector-based gene therapies, are actually now being developed and administered in trial situations to actual patients. And so, it always feels like we're on the cusp, but I think actually now we really are on the cusp of having gene-based therapies for genetic epilepsies. I think that there is still so much to sort out, both from basic scientific point and from a practical administering these things to patients and what are the potential long term consequences.For example, unlike medications, which are therapies that you can stop if there are adverse effects, often administering a gene therapy is a one-and-done thing that can't be retracted. Thinking even about the ethical framework of that and the framework of explaining to patients that we don't know the ten, twenty-year consequences of that, is part of the informed consent process, for example. So, there's still so much work that is going to be transformational, not just from the, you know, the big picture, but from developing all, you know, from going through all of these steps to really make these kinds of therapies a reality. Dr Smith: Well, it's really amazing. And, you know, we're seeing this in multiple different areas in neurology. So, well done. You run the child neurology residency program there, I understand. I try to snoop on people before I talk to them because we haven't met before this. And you're obviously a very a very good educator. Thank you so much for talking with me today. I don't spend a lot of time in epilepsy, but every time I do one of these, I kind of want to go back and do something different because it's such a neat field. Thank you.  Dr Kessler: You're welcome. It was my pleasure.  Dr Smith: Again, today I've been interviewing Dr Sudha Kessler about her article on epilepsy genetics, which is truly outstanding. This article appears in the most recent issue of Continuum on epilepsy. Be sure to check out Continuum audio episodes from this and other issues. And thank you, listeners, for joining us today. Dr Monteith: This is Dr Teshamae Monteith, Associate Editor of Continuum Audio. If you've enjoyed this episode, you'll love the journal, which is full of in-depth and clinically relevant information important for neurology practitioners. Use this link in the episode notes to learn more and subscribe. AAN members, you can get CME for listening to this interview by completing the evaluation at continpub.com/audioCME. Thank you for listening to Continuum Audio.

This week on Health Matters, as we continue to observe Heart Month, we will explore the role that genetics play in heart health.Understanding your family history of cardiovascular health is essential. In fact, about 30% of heart disease can be linked to family history. We speak with Dr. Jessica Hennessy, a clinical cardiac electrophysiologist and cardiogenetics expert at NewYork-Presbyterian and Columbia to help break down which heart conditions and risk factors may be inherited. She provides valuable insight on effectively managing heart health, including the importance of lifestyle modifications in preventing heart disease, including for individuals with a genetic predisposition. She also explains who should get genetic testing and what that process looks like.___ Dr. Jessica Hennessey specializes in Cardiac Electrophysiology, with a special focus on Sports & Exercise Cardiology. She practices primarily in New York, NY, and is affiliated with NewYork-Presbyterian/Columbia University Irving Medical Center. Dr. Hennessey graduated from Duke University School of Medicine in 2014, and completed her training at Massachusetts General Hospital, NewYork-Presbyterian/Columbia University Irving Medical Center and NewYork-Presbyterian/Columbia University Irving Medical Center. She is board certified in Internal Medicine, Cardiovascular Disease and Cardiac Electrophysiology. ___ Health Matters is your weekly dose of health and wellness information, from the leading experts. Join host Courtney Allison to get news you can use in your own life. New episodes drop each Wednesday. If you are looking for practical health tips and trustworthy information from world-class doctors and medical experts you will enjoy listening to Health Matters. Health Matters was created to share stories of science, care, and wellness that are happening every day at NewYork-Presbyterian, one of the nation's most comprehensive, integrated academic healthcare systems. In keeping with NewYork-Presbyterian's long legacy of medical breakthroughs and innovation, Health Matters features the latest news, insights, and health tips from our trusted experts; inspiring first-hand accounts from patients and caregivers; and updates on the latest research and innovations in patient care, all in collaboration with our renowned medical schools, Columbia and Weill Cornell Medicine. To learn more visit: https://healthmatters.nyp.org

On this episode of Talking Away The Taboo, Natalie Richeimer, MS, CGC, Genetic Counselor, Education and Outreach Manager at Jscreen, Bat-Sheva L. Maslow MD, REI, RMA, and Rena Fox, RNC-OB, BSN, join Aimee Baron, MD to talk about genetics and Infertility. The introductory episode of our 5-part IWSTHAB x JSCREEN Podcast series dives into the genetic aspect of fertility and recurrent pregnancy loss (RPL) workups, setting the stage for an engaging and informative series that blends expert knowledge with deeply personal stories. Moderated by Dr. Aimee Baron of IWSTHAB, in this epsiode, we speak to Natalie, a reproductive genetic counselor, will explain what a genetic counselor does and how genetics factor into infertility evaluations. Dr. Batsheva Maslow (REI) will provide a medical perspective on infertility evaluations and how certain diagnoses and/or findings can help direct treatment. And finally,  Rena Fox will share her personal journey as part of a carrier couple who chose IVF for genetic reasons, shedding light on the real-life implications of genetic fertility challenges.  More about Natalie:  Natalie Richeimer, MS, CGC, is a board certified genetic counselor at jscreen with clinical experience in adult, pediatric, and reproductive genetic counseling. She holds a master's degree in human genetics and genetic counseling from the Keck Graduate Institute. Natalie is a native Torontonian, who lives in Los Angeles with her husband and two boys. She has published research in the Journal of Genetic Counseling on the impact of orthodox Jewish clergy's role in prenatal genetic counseling. Prior to her work as a genetic counselor, Natalie worked as a high school STEM teacher for 7 years in Los Angeles. She is passionate about reproductive health education and community engagement. Natalie has a special interest in outreach, with the goal of increasing awareness of and access to genetic counseling. Natalie has partnered with local organizations and high schools to provide community education. More about Dr. Maslow: Dr. Bat-Sheva Lerner Maslow is double board-certified in OB/GYN and Reproductive Endocrinologist and Infertility and is the lead physician at the Reproductive Medical Associates of New Jersey - Jersey City office. Dr. Maslow has a special interest in education, research, and the clinical care of single women considering proactive fertility preservation.  Outside of the office, Dr. Maslow lectures and writes on the intersection of halakha and reproduction. She serves as the Director of Medical Education for the North American Yoatzot Halacha Program and is a board member of several organizations related to Jewish women and health. She maintains an active educational presence on social media discussing issues related to reproduction in the Jewish community.  Dr. Maslow attended Barnard College and the Albert Einstein College of Medicine. She completed residency in Obstetrics & Gynecology at the University of Pennsylvania and fellowship in Reproductive Endocrinology & Infertility at the University of Connecticut, where she also completed a master's degree in clinical and translational research More about Rena:  Rena is an experienced nurse with 6 years in labor and delivery and 2 years in reproductive endocrinology and infertility (REI). Having personally gone through IVF, she combines professional expertise with personal insight to provide compassionate care and support to those navigating fertility challenges. Connect with us: -Check out our Website - Follow us on Instagram and send us a message -Watch our TikToks -Follow us on Facebook -Watch us on YouTube

Your Genetics are a key part of my TUSHY Method (Y = Your genetics) and I'm so honored to have Dena Goldberg (also known far and wide as Dena DNA) joining me today! Some of the questions I know you have on your mind about genetics are: Nothing came back on my 23 & Me test. I'm good to go, right? Answer: Not so fast. 23&Me relies on "SNP testing," and only looks at "very specific bookmarks on very random genes." You'll want a more thorough test for preconception screening. I don't have any history of disease in my family. Do I need to do genetic testing? Answer: It's a good idea. There are syndromes such as Lynch Syndrome that are asymptomatic in 90% of people who are carriers. You'll want to know if you have those genetic markers before passing them on to your embryo and child. Can you make sure my embryo doesn't have autism? Answer: Autism is actually a description of a constellation of symptoms. So it's not an underlying condition in and of itself. There are hundreds to thousands of genetic causes to autism. We can catch some of these cases, but not all. Autism is multifactorial, meaning that many of these cases are probably caused by a combination of genetics and environment or in other words, nature and nurture together. Thank you for joining me, Dena! Listen on Dr. Aimee's website Do you have questions about IVF? Join Dr. Aimee for The IVF Class at The Egg Whisperer School. The class includes a live class call where Dr. Aimee will explain IVF and there will be time to ask her your questions live on Zoom. The next call is Monday, February 10, 2025. Find Dena's site here: https://www.denadna.com/home Subscribe to my YouTube channel for more fertility tips! Join Egg Whisperer School Checkout the podcast Subscribe to the newsletter to get updates Dr. Aimee Eyvazzadeh is one of America's most well known fertility doctors. Her success rate at baby-making is what gives future parents hope when all hope is lost. She pioneered the TUSHY Method and BALLS Method to decrease your time to pregnancy. Learn more about the TUSHY Method and find a wealth of fertility resources at www.draimee.org.

On This Episode We Discuss: In this episode we explore genetic testing in low risk populations, both in direct-to-consumer and clinical settings. We interview authors on two recent JoGC papers related to topics of communication of health risks, understanding of genetic testing, and informed decision-making. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.   Segment 1: An analysis of direct-to-consumer genetic testing portals and their communication of health risk and test limitations Nicole Lee is an associate professor of communication in the School of Social and Behavioral Sciences at Arizona State University. Her research examines the intersection of science communication, public relations, and digital media. This work has been applied to many contexts including climate change, biodiversity research, wellness products, and direct-to-consumer genetic testing. x: @lee_nicole linkedin: https://www.linkedin.com/in/nicoleleepr/   In this segment we discuss: - What motivated the exploration of how direct-to-consumer (DTC) genetic testing companies communicate health risks to consumers. - Potential impacts on consumers who may misinterpret relative risk when presented without adequate context. - Importance of genetic counselors in improving interpretation and communication of DTC genetic test results. - Suggestions for enhancing transparency and clarity in communicating health risks to consumers.   Segment 2: Non-Invasive Prenatal Screening: Testing Motivations and Decision Making in the Low-Risk Population Meagan Choates, MS, CGC is the Assistant Program Director of the University of Texas Genetic Counseling Program and Assistant Professor in the Department of Obstetrics, Gynecology, and Reproductive Sciences at the McGovern Medical School at UTHealth Houston where she practices prenatal genetic counseling. She received a BS in Biochemistry and Genetics with a Minor in Psychology from Texas A&M University in 2014 and an MS in Genetic Counseling from the University of Texas Genetic Counseling Program in 2016. Meagan provides prenatal genetic counseling services at several Houston area clinics, and supervises genetic counseling students while on their prenatal rotation. In addition, she directs and teaches the genetic counseling program's Embryology course and Approaches to Genetic Counseling Research I & II. She co-directs and teaches in the program's Prenatal Genetic Counseling, Psychosocial Issues, and Psychosocial Practicum courses. She additionally oversees the genetic counseling students' Master of Science thesis research process. Her personal research interests include understanding how genetic screening and testing options are discussed, utilized, and interpreted in the clinical setting. ResearchGate profile: https://www.researchgate.net/profile/Meagan-Choates-2 In this segment we discuss: - The anecdotal observations that inspired the study, notably that low-risk and high-risk patients shared similar motivations for choosing NIPT. - That insurance coverage was the second most significant factor influencing the decision to undergo NIPT. - About 44% of participants were classified as making "uninformed decisions" despite receiving pre-test counseling from a genetic counselor. However, the term “uninformed” used by the MMIC tool can be misleading. - The challenge of balancing detailed knowledge expectations with patients' ability to make value-consistent and thoughtful decisions.   Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.

In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We explore the basics of carrier screening, how to interpret results, and the importance of genetic counseling for both new and experienced parents—especially those who already have a child with a rare disease. Natalie also sheds light on Variants of Uncertain Significance (VUS) and offers insight into talking with family members about genetic risks and results. Throughout our chat, Natalie emphasizes that knowledge truly is power when it comes to family planning and navigating the complexities of genetic information. We discuss strategies for deciding between natural pregnancy, IVF with genetic screening, and other alternatives, helping you feel more confident and informed about your options. Whether you're just beginning your journey or seeking clarity in the midst of it, this episode offers valuable perspectives and heartfelt advice. Join us as we learn how to take charge of our genetic health and family-planning decisions with compassion and confidence. Finally, don't forget about the Once Upon a Gene Revival—an uplifting event designed to support, educate, and connect rare disease caregivers. Registration is open now on my website. Links: JScreen Genetic Testing Instagram Once Upon A Gene Revival

Join the SART Fertility Experts as they discuss Preimplantation Genetic Testing for Aneuploidy (PGT-A) for chromosome abnormalities, mosaicism, and IVF considerations, addressing patient age, testing accuracy, outcomes, and future use. Hosted by Dr. Timothy Hickman with special guest and Genetic Counselor, Amber Kaplun. Find the #StartwithSART Fertility Experts series wherever you get your podcasts. Looking for advice on building a family? Ask the experts and #StartwithSART. For more information about the Society for Assisted Reproductive Technology, visit our website at https://www.sart.org Have a topic you'd like to hear? Tell Us!  

In this episode we discuss the recent National Society of Genetic Counselor's Practice Resource on Dystrophinopathies, which was recently published in JoGC, with two of the publications' authors. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.   Segment 1: “Genetic counseling for the dystrophinopathies- Practice resource of the National Society of Genetic Counselors”   Ann Martin, MS, CGC is a board certified genetic counselor with Parent Project Muscular Dystrophy (PPMD). Ann serves as the VP of Community Research and Genetic Services and manages a team of genetic counselors who coordinate all aspects of The Duchenne Registry and the Decode Duchenne genetic testing program. Since joining PPMD in 2011, Ann has been directly involved in all aspects of the Registry programs including collection and curation of the Registry data, clinical trial and research study recruitment, data exports, patient and family inquiries, genetic testing, and educational content on the PPMD websites. Ann represents The Duchenne Registry on TREAT-NMD's Global Data Oversight Committee, which is responsible for reviewing requests for data from the TREAT-NMD Global Registries, and serves as the DMD Subgroup Co-Lead. In addition, Ann has been a member of Sarepta Therapeutics' Advisory Board for Early Diagnosis of Duchenne since 2022. Ann is continually engaging and educating both the patient and professional community about the Registry and Duchenne and Becker research. Before joining PPMD, Ann worked as a clinical genetic counselor for 15 years at Carolinas Medical Center in Charlotte, NC, where she provided genetic counseling for pediatric and adult patients with a wide range of genetic disorders. Ann is a graduate of the University of Cincinnati Genetic Counseling Graduate Program. She is board-certified by the American Board of Genetic Counseling and is a member of the National Society of Genetic Counselors. Angela Pickart (she/her) is a licensed, certified genetic counselor practicing in the Genomics Laboratory at Mayo Clinic, performing variant interpretation, report writing and test development for neurogenetics assays. She received her Master of Science degree in Genetic Counseling at the University of Minnesota and has extensive clinical experience in pediatric, neurology, and oncology genetic counseling prior to transitioning to her laboratory role. She has been awarded the academic rank of Assistant Professor of Laboratory Medicine at the Mayo Clinic College of Medicine and Science where she serves as course co-director of the Center for Clinical and Translational Sciences Molecular Variant Evaluation Course. She is also the course co-director of the Laboratory Practicum for the Medical College of Wisconsin Master of Science Genetic Counseling Graduate Program and Adjunct Assistant Professor of the Medical College of Wisconsin School of Graduate Studies.   In this segment we discuss: - Origins and significance of the genetic counseling-specific practice resource for dystrophinopathies. - Changes in the treatment landscape due to FDA-approved therapeutics and ongoing clinical trials for dystrophinopathies. - Strategies for educating patients and families about the implications of genetic testing and diagnosis in dystrophinopathies. - Advocacy roles of genetic counselors in helping patients access the latest therapies and participate in clinical trials for DMD/BMD. - Importance of interdisciplinary collaboration in managing dystrophinopathies and the roles genetic counselors play within these teams. - Potential broader impact of the practice resource on the medical field and patient community.    Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors. Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.  For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.  Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.  DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.

I'm honored to have Genetic Counselor Meaghan Doyle on The Egg Whisperer Show for a fascinating and vital discussion about mosaic embryos. If you're going through IVF, this is an episode you don't want to miss.⁠ ⁠ Plus, we dive into the importance of detailed genetic testing and working with a genetic counselor to make the best decisions for your embryo transfers.⁠ ⁠ Here are 5 key questions we answer during the episode:⁠ 1️⃣What are mosaic embryos?⁠ 2️⃣How do you know if you have a mosaic embryo?⁠ 3️⃣Are all mosaic embryos the same, or are there different kinds?⁠ 4️⃣How can a mosaic embryo become a healthy baby?⁠ 5️⃣Can you go back and request your embryo report?⁠ ⁠ Let's bust some myths, share the science, and empower you with the knowledge you need.⁠ Tune in on my website: https://www.draimee.org/genetics-mosaic-embryos-and-your-fertility-with-guest-meaghan-doyle Do you have questions about IVF, and what to expect? Click here to join Dr. Aimee for The IVF Class. The next live class call is on Monday, December 16, 2024 at 4pm PST, where Dr. Aimee will explain IVF and there will be time to ask her your questions live on Zoom.     Dr. Aimee Eyvazzadeh is one of America's most well known fertility doctors. Her success rate at baby-making is what gives future parents hope when all hope is lost. She pioneered the TUSHY Method and BALLS Method to decrease your time to pregnancy. Learn more about the TUSHY Method and find a wealth of fertility resources at www.draimee.org. Other ways to connect: Subscribe to my YouTube channel for more fertility tips Join Egg Whisperer School Subscribe to the newsletter to get updates

2024 recipient of the Natalie Weissberger Paul National Achievement Award from the NSGC, Laura Hercher, Associate Director of Genetic Counseling at the Dana-Farber Cancer Institute, Jill Stopfer, and Innovation Specialist and Chair of the British Society for Genetic Medicine, Demetra Georgiou, discuss the changing roles genetic counselors will play as genomics goes mainstream. The international panel of genetic counselors discusses:Visions for genomic mainstreamingChanging roles of genetic counselors under mainstreamingPast, present, and future barriers to genomic mainstreamingExamples of current genomic integrations

In this episode we discuss two papers that highlight the importance of communication around family health history and the influence of family beliefs on genetic testing decisions. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.   Segment 1: ““Family health beliefs and cascade genetic testing in Asian families with hereditary cancer risk: “Okay, now what?””   Leena Tran began her career as a cancer genetic counselor at Cedars-Sinai in 2022, after completing her Master's of Science in Human Genetics and Genetic Counseling at Stanford University. Originally from Southern California, she is grateful to have the opportunity to work with patients and providers within the greater Los Angeles area. Leena is passionate about facilitating both provider and patient-directed education, as well as improving health care access and experiences for patients of diverse backgrounds.   In This Segment We Discuss: - The motivation behind exploring family health beliefs and cascade genetic testing in Asian families with hereditary cancer risk.. - Use of a constructivist approach in this study and rationale for choosing this methodology. - Influence of shared health beliefs within families on decisions regarding genetic testing and family communication. - Common strategies participants employed to discuss genetic testing with their relatives. - Roles genetics providers play in facilitating family discussions about cascade genetic testing.   Segment 2: “Young adults' reasoning for involving a parent in a genomic decision-making research study”   Dr. Melanie Myers is a Professor in the Division of Human Genetics, in the Department of Pediatrics, at Cincinnati Children's Hospital. She is the Co-Director of the Graduate Program in Genetic Counseling, a joint program between the University of Cincinnati and Cincinnati Children's Hospital. Dr. Myers has a background in public health genomics with specific training in genetic counseling, public health, social and behavioral sciences, and applied epidemiology. Her research interests include the impact of integrating genomics into public health research and practice. Dr. Myers's current NIH-funded work focuses on empowering adolescents from diverse backgrounds to participate in the decision-making process about learning genomic results. Myers obtained her MS in genetic counseling from the University of Cincinnati and her PhD in public health from the Johns Hopkins School of Hygiene and Public Health. www.cincinnatichildrens.org/geneticcounselingprogram   Julia Pascal is an oncology genetic counselor at Virginia Cancer Specialists. She earned her masters in genetic counseling from the University of Cincinnati genetic counseling program in 2023. Originally from the Washington DC area, Julia is grateful for the opportunity to care for cancer patients in the community where she grew up.    In This Segment We Discuss:   - Unique aspects of young adults' approaches to medical decisions compared to those of older adults. - Influence of cognitive maturity on young adults' readiness to make independent health decisions, particularly in complex fields like genomics. - Challenges encountered in designing a study that addresses both autonomous decision-making and parental influence. - Role of healthcare providers in supporting young adults' transition to independent decision-making.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dna dialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson, and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.

This week host Tim Kail is joined by Katie Gallagher, Director of the Genetic Counseling Program. Tim and Katie discuss what a Genetic Counselor is, how Genetics Counseling can help in family planning, the role of nature vs nurture, and what genes do and do not determine. Follow Sarah Lawrence College on ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Instagram⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠, ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠TikTok⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠, ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Facebook⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠, ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Vimeo⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠, ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠YouTube⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠, and ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠LinkedIn⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠. And give this podcast a five star rating and review in Apple Podcasts. Thanks for listening!

In this episode we discuss a research study that focuses on Black women who tested positive for a pathogenic variant associated with an increased risk for breast cancer. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. Please note that the terminology used refers to women to reflect the language used in the paper, and all genders can have a risk to develop breast cancer. Segment 1: “A qualitative study of Black breast cancer previvors' and survivors' experiences after positive genetic testing” Malika Sud (she/her) is a genetic counselor who specializes in fetal genetics and rare disease diagnosis. She works at the Manton Center at Boston Children's Hospital, where her projects focus on discovering genetic causes of rare disease, improving access to genetic testing/counseling, and support around perinatal loss. She also cares for people with high-risk pregnancies at the Maternal Fetal Care Center at Boston Children's Hospital. Malika's work is informed by her community activism and lived experience as a woman of color - she is a longtime advocate for reproductive justice and strives to center marginalized voices healthcare and research. She teaches at the Boston University Genetic Counseling Program and serves on the NSGC J.E.D.I. Stewardship Committee in an effort to make the genetic counseling field more inclusive for patients and colleagues. Malika's Twitter handle is @malikasud   Erika Stallings is an attorney and writer based in Jersey City, NJ. In 2014 she learned that she carried a BRCA2 mutation and underwent a preventative mastectomy that same year. Since undergoing genetic counseling and testing she has worked to raise awareness of hereditary cancer with a specific focus on raising awareness in minority communities. Her writing about her experience with hereditary cancer as well as her work on health inequities has been published in NPR, O Magazine, The Cut, Jezebel and The New York Times. She is active on social media at the handle quidditch424 on X."  In This Episode We Discuss: - The origins of the study and the reasoning behind choosing this specific topic. - Erika's involvement as a patient advocate and how the team's diverse backgrounds shaped the research approach. - The five key themes uncovered in the study, with relevant participant quotes shared. - Insights on how healthcare providers can improve support for Black women with genetic results indicating higher breast cancer risk. - Discussion of the study's potential impact on future research and changes in clinical practice.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson, and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.

Jessica Ordonez, certified genetic counselor and Medical Science Liaison at Myriad Genetics explains genetics' role in breast cancer and how the MyRisk® with RiskScore® tests can help you better understand your 5-year and lifetime risk. You'll learn what you need to know about different kinds of genetic factors, including the impact of changes in genes like BRCA1, BRCA2, CHEK2, and others. Uncover the fallacy that you aren't at risk if you don't have “the BRCA gene.” We'll also discuss how a genetic counselor can guide you if your results show a high lifetime risk. If you have a family history of cancer or are simply curious about your genetic health, this episode offers insights into genetic testing, risk factors, and empowering yourself with knowledge.For more resources, visit our website: SheMDpodcast.comFollow us across social media: @SheMDpodcastSponsor:Knowing your family's history of cancer is the first step to understanding your own cancer risk and may qualify you for the MyRisk Hereditary Cancer Test with RiskScore hereditary cancer test. It's easy, accurate and covered by most insurers. Learn more at GetMyRisk.com, https://myriad.ws/getmyriskIN THIS EPISODE: [1:06] Jessica describes the role of a genetic counselor and a medical science liaison[2:51] Discussion of genetic markers and BRCA1 and BRCA2 genes[13:41] The difference between gene mutations and variants of uncertain significance[23:16] Explanation of the CHEK2 gene[27:11] How would a genetic counselor counsel a woman whose genetic test comes back with a high lifetime riskRESOURCES:Myriad Genetics InstagramGet MyRisk WebsiteGUEST BIOGRAPHY: Jessica Ordonez is a certified genetic counselor and Medical Science Liaison at Myriad Genetics. She holds diplomate status with the American Board of Genetic Counseling and is an active member of the National Society of Genetic Counselors and the Florida Association of Genetic Counselors.Jessica completed her undergraduate and graduate studies at the University of Michigan, earning a Bachelor's in Cell & Molecular Biology and Spanish Literature and a Master's in Genetic Counseling. With over a decade of experience as a clinical genetic counselor, she has provided care in pediatric, adult, and cancer genetics clinics within academic and private hospital settings, focusing on Spanish-speaking patients.As a Medical Science Liaison, Jessica educates clinicians across Florida on hereditary cancer and reproductive genetics. She is involved in several company projects at Myriad, specifically leading a needs assessment for patient-facing Spanish resources to enhance inclusiveness and equity in care.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

To learn about colon cancer, we are joined by Gabrielle Shermanski. Gabrielle Shermanski completed her Master of Science in Human Genetics at Sarah Lawrence College in 2020. She is a licensed, board-certified Genetic Counselor at Geisinger with 4 years of clinical experience in adult oncology. Gabrielle's primary interests include helping patients with inherited breast cancer syndromes and inherited GI syndromes facilitate further care and communicate results to family members. Gabrielle has a strong interest in education, mentorship, and outreach opportunities. Her hobbies outside of work include cooking and hanging out with her puppy, RJ.   During the episode Gabrielle mentioned the National Comprehensive Cancer Network's colon cancer guidelines, which you can find here.    Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

In this episode we discuss research on patient and family experiences in neurogenetics. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.    Segment 1: “Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis” Connolly Steigerwald is a certified genetic counselor at NYU Langone Health's Division of Neurogenetics and Lysosomal Storage Disorders Program in NYC, where she assists in providing evaluations and genetic counseling for those with suspected or confirmed neurogenetic disorders. Her clinic population includes those with neurodevelopmental disabilities, epilepsies, neuromuscular disorders, dementias, white matter disorders, movement disorders, and lysosomal storage disorders. Connolly holds a Master of Science in Genetic Counseling from Columbia University, where she completed a specialty rotation in neurology with a focus on neurodegenerative and neuromuscular disorders such as amyotrophic lateral sclerosis. Her research interests include predictive genetic testing, lysosomal storage disorders, and implementation of genetic counselor led clinic models. Elizabeth Harrington, MS, CGC, is an ABGC board-certified genetic counselor and Lecturer in the department of Neurology at Columbia University. Ms. Harrington received her graduate degree in human genetics and genetic counseling from the Stanford University School of Medicine.  Ms. Harrington provides genetic counseling expertise in neuromuscular, neurodegenerative, and motor neuron diseases, and specifically provides clinical genetic counseling to patients and families with ALS. In addition to her clinical and academic responsibilities, Ms. Harrington directs the ALS Families Project research study, a presymptomatic natural history study designed to understand the genetic underpinnings of genetic forms of ALS and the impact on affected families. Link to the ALS Families Project: https://clinicaltrials.gov/study/NCT03865420 In this segment we discuss: How the experiences and decision-making processes for ALS risk compare to other neurodegenerative disorders, such as Huntington disease (HD). What influences individuals at risk for familial ALS/FTD to choose predictive genetic testing, including factors like religious affiliation. The psychological impact of testing positive for ALS-associated mutations is compared to those who test negative or opt out of testing, revealing significant emotional differences. Social support networks, whether from family, friends, or healthcare professionals, are critical for those processing genetic test results or managing their risk for ALS/FTD. The importance of integrating psychological care into the predictive genetic testing process to support individuals facing the risk of neurodegenerative diseases. Segment 2: “How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty” Victoria Suslovitch (Tori) is a genetic counselor and works as a genomic science liaison for the rare disease team at Ambry Genetics. She educates healthcare providers about genetic testing and genomic medicine, and aims to advance access, equity, and quality of genetics services. Prior, Victoria was a research genetic counselor at Boston Children's Hospital, for a study that develops genomically targeted therapies for children with rare neurological diseases. In this role, she worked closely with families of patients with ataxia telangiectasia. She received her Master of Science in Genetic Counseling degree from Boston University, and is certified by the American Board of Genetic Counseling.  Julia Schiller works as a cancer genetic counselor at AdventHealth in Parker, CO. She attended Drake University for her undergraduate degree, and Boston University School of Medicine for her genetic counseling degree and is certified by the American Board of Genetic Counseling. Originally from Minnesota, she now enjoys all the outdoor adventures Colorado has to offer with her partner, Adam, and their dog, Sprocket. Her passionate for health equity and preventative care drive her to create a space for patients where they feel empowered in their own healthcare. Link to the Ataxia Telangiectasia Children's Project (ATCP): https://atcp.org In this segment we discuss: Ataxia-Telangiectasia (A-T) - a pediatric movement disorder characterized by ataxia, immune deficiencies, and a higher risk of cancer, with symptoms often starting in early childhood. The similarities and differences in parental experiences as well as emotional and clinical challenges faced by families The five key themes that emerged: changes in parental responsibilities, shifts in family identity, evolving coping strategies, continuous uncertainty, and the importance of support from various sources. A-T's progressive nature meant that coping and identity changes were ongoing, with parents turning to connections with family, medical teams, and other A-T families. Parents described emotional, logistical, and financial challenges associated with the diagnosis, highlighting the need for supportive and understanding healthcare providers.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson, and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.

Guests include Megan Cho to discuss her paper, “Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies” as well as Amanda Polanski and Ashley Kuhl to discuss their paper, “Leadership development in genetic counseling graduate programs.”   In this episode we discuss clinical training by exploring papers that discuss clinical simulation and leadership development. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.    Segment 1 “Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies”   Megan is the Associate Director of the Johns Hopkins/NIH genetic counseling training program.  Prior to that, as the Research Program Manager at GeneDx, she created and led a team working to discover and describe rare genetic disorders.  Megan has practiced clinically at Columbia/New York Presbyterian Hospital and was also adjunct teaching faculty at the Sarah Lawrence College genetic counseling program.  She serves as the Co-Chair of the GCEA Education Committee, past Chair of the NSGC Outcomes Committee, past Chair of the NSGC Research Special Interest Group, and has been a member of various task forces including the NSGC Research Task Force and the ACGC Practice Based Competencies task force.   In this segment we discuss:  Challenges posed by standardized tests in ensuring equity. Alternative methods proposed in the article for assessing competence in new genetic counseling graduates and trainees. Contrasts between formative and summative assessments in simulation-based education. Differences in assessment difficulty and methodology between genetics knowledge and counseling competence. Barriers and challenges in implementing simulation in large-scale certification exams in other fields.   Segment 2 “Leadership development in genetic counseling graduate programs”   Amanda Polanski is a certified genetic counselor at Minnesota Perinatal Physicians. She graduated from the University of Wisconsin-Madison Master of Genetic Counselor Studies program in 2023, and her research focused on characterizing the role of leadership development in genetic counseling graduate programs. Previously, she has done research on identification and diagnosis of familial hypercholesterolemia through the University of Minnesota. She currently enjoys providing compassionate and inclusive care to prenatal patients alongside other dedicated providers.   Ashley Kuhl, MS, CGC, is the Assistant Program Director at the Master of Genetic Counselor Studies program at the University of Wisconsin-Madison and an assistant professor (CHS) in the Department of Pediatrics. She enjoys working with genetic counseling and other health professions learners in various capacities and with patients and families in the UW Biochemical and Medical Genetics clinics at the Waisman Center. She began her clinic work in 2013 after completing her master's degree in Medical Genetics from the UW-Madison Genetic Counseling Training Program.   In This Segment  We Discuss: Enhancement of genetic counselors' impact through leadership skills. Importance of intentional leadership development in advocating for patients and the profession, and the role of genetic counseling in broader healthcare advocacy efforts. The variation in the definition and understanding of leadership among program leaders, and its impact on leadership development within genetic counseling (GC) programs. Role of faculty in driving leadership development and effective strategies employed to instill leadership skills in GC students. Identification of current leadership development as a top area for improvement and actionable steps for programs to address this gap.   [Plug guest website and SM]   Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian.   

Guests include Gina Sanchez to talk about her paper, “Status of abortion curriculum in genetic counseling: Survey of graduate programs and recent graduates in the United States” and Dr. Holly Rankin to discuss her paper, “Termination counseling among US perinatal genetic counselors in the setting of second trimester fetal anomalies.”   Segment 1: Gina Sanchez, MS, MB(ASCP), CGC is a genetic counselor and Instructor in the Department of Obstetrics, Gynecology, and Reproductive Sciences at the McGovern Medical School at The University of Texas Health Science Center at Houston. She received a BS in Zoology from Texas Tech University in 2012, a MS in Molecular Pathology from Texas Tech University Health Sciences Center in 2013, and a MS in Genetic Counseling from The University of Texas Genetic Counseling Program in 2022. Gina provides prenatal genetic counseling services in both English and Spanish at several Houston area clinics. She is a member of the National Society of Genetic Counselors and the Texas Society of Genetic Counselors. Gina's research interests include genetic counseling education and increasing access to genetic counseling care for the Spanish-speaking patient population. In this segment, we discuss: Assessment of the abortion curriculum in genetic counseling graduate programs and the study participants. Variability in the amount and types of abortion training across surveyed programs. Factors influencing the training provided. Greater satisfaction and preparedness among graduates from programs with a dedicated abortion curriculum. Notable discrepancies between responses from recent graduates and program representatives. Key topics highlighted as important parts of abortion education. Variability in clinical training as a barrier to abortion education and potential solutions to standardize this education. Segment 2: Dr. Holly Rankin received her undergraduate degree in anthropology, graduating summa cum laude, from the University of California, Los Angeles. She completed her medical education at Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia where she was inducted into the Gold Humanism and the Alpha Omega Alpha Honor Societies. Dr. Rankin completed her residency training in Obstetrics and Gynecology at Johns Hopkins University, Baltimore. She received the Ryan Program Excellence in Family Planning Award at the end of residency training. Dr. Rankin is excited to be a Complex Family Planning fellow at UC Davis and plans to focus her career on providing abortion and contraceptive specialty care to underserved, rural communities. In this segment, we discuss: The impact of state laws and location on counseling and termination options. Differences between genetic counselors and other healthcare providers in handling these cases. Balancing patient autonomy with counseling challenges. How reproductive justice affects the discussion of termination options, especially with changing abortion laws.   Follow us on Instagram @dnadialoguespodcast and on LinkedIn at Journal of Genetic Counseling.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.  

In this episode we discuss navigating non-invasive prenatal screening, also known as non-invasive prenatal testing, by reviewing two articles covering genetic counseling insights, informed consent challenges, and inclusive practices. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.    Segment 1 “Genetic counseling for fetal sex prediction by NIPT: Challenges and opportunities”   Chelsea Stevens is a clinical and research genetic counselor in the cardiovascular genetics clinic at Brigham and Women's Hospital. She has been working at BWH since 2022 and works primarily on projects aimed to understand genotype/phenotype relationships in cardiomyopathies. The publication we will be discussing today is the result of Chelsea's capstone project during her genetic counseling graduate education at the MGH Institute of Health Professions. She is from Connecticut and has been living in Boston for the past 6 years and loves working in a city with a strong genetic counseling network.   Courtney Studwell  is a laboratory genetic counselor in the Center for Advanced Molecular Diagnostics (CAMD) at Brigham and Women's Hospital. In the cytogenetics laboratory, Courtney serves as a liaison to clinical providers ordering genetic testing and helps to implement updated testing protocols that reflect patient needs and the evolving landscape of genetic testing technologies. In addition to working in the laboratory, Courtney also sees patients in the Center for Fetal Medicine and Reproductive Genetics at Brigham and Women's Hospital and is passionate about providing high-quality genetics care to patients at all stages of their reproductive process.   In this segment, we discuss: An overview of NIPS, its evolution and recommendations on utilizing it as a screening tool Insights into study participants' clinical practices and training regarding inclusive language for sex and gender Challenges and misconceptions faced by providers when offering NIPS Recommendations to address issues related to challenges and misconceptions   Segment 2 "What knowledge is required for an informed choice related to non-invasive prenatal screening?"   Jill Slamon is an Assistant Professor in Obstetrics and Gynecology in the Vanderbilt School of Medicine and the founding Assistant Program Director of the Vanderbilt University Master of Genetic Counseling Program. Jill has over 12 years of clinical experience in reproductive and prenatal genetic counseling with unique experiences in preconception counseling in the queer community. Her research interests focus on topics ranging from genetic counseling education and training, genetic counseling outcome measures, patient-reported outcome measures, and experiences of queer patients seeking preconception and prenatal care. Jill earned a Bachelor of Science from the Lyman Briggs College at Michigan State University. She then earned a Master of Art in Teaching from National Louis University and a Master of Science in Genetic Counseling from Northwestern University in Chicago, IL.   In this segment, we discuss: The challenges in informed consent and fetal sex prediction in NIPS Professional guidelines related to informed consent and NIPS The multidimensional measure of informed choice (MMIC) Impact on decisional conflict among patients offered NIPS   Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. 

ABOUT THIS EPISODE: Genetic Counseling and Cancer – here's what you should know!In this episode 16 we talk about what you need to know about the risks and benefits of genetic counseling for cancer survivors. If you were never tested at the time of your diagnosis years ago is there value in testing you now?  If you were tested years ago, should you be re-tested? And if so when? How can information you learn about yourself help your family? And what are the protections and limitations of the federal law Gina or genetic information nondiscrimination act? And if you test or positive or negative how does that impact you, your family and your cancer screening recommendations? We will answer all these questions for you and more in this episode of The Recovery Room Podcast!ABOUT THE RECOVERY ROOM PODCAST: The Recovery Room Podcast discusses all things cancer recovery. We bring you the accuracy, experts, understanding and next steps you need to be healthier, more confident, make better decisions and live your best life after cancer! I appreciate you watching and listening! Hugs, Dr. L GUEST INFO: Deborah Wham, MS, CGC   https://www.linkedin.com/in/deborah-wham-a082505/Deb is a certified genetic counselor and manager of the Genomic Medicine Program for Advocate Aurora Health and Aurora Cancer Care. Ms. Wham earned her master's degree in genetic counseling from Northwestern University, is a former director-at-large for the National Society of Genetic Counselors, and she currently sits on the Genetics Advisory Board for the state of Wisconsin. Deb is a huge advocate for broader access to genetic counseling services.FREE VIDEOS FROM “THE RECOVERY ROOM!”https://www.youtube.com/@therecoveryroom2198/videosCANCER REHAB CONTINUING EDUCATION for rehab therapists or cancer providers: The Waltke Cancer Rehabilitation Academy provides medical education lectures, rehab continuing education courses, keynotes and talks to cancer groups. Learn more at: https://www.waltkeacademy.comEMAIL: Dr.Waltke@WaltkeAcademy.com VOICEMAIL: +1 (414) 373-0700

In our fourth episode, we delve into the importance of gender-inclusive language in genetic counseling and the specific challenges transgender and gender-diverse (TGD) individuals face in accessing hereditary cancer care. You can find these articles in a special virtual issue of the Journal of Genetic Counseling which is free and open access for the month of June. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.    Segment 1 “Use of gender-inclusive language in genetic counseling to optimize patient care”   Heather Motiff graduated with a B.S. in Psychology from the University of Wisconsin-Whitewater in 2006. She has extensive experience working as a crisis response advocate and co-facilitating support groups for survivors of intimate partner violence. Heather discovered her interest in genetic counseling during her first pregnancy in 2010. She has served as a Community Resource Specialist and contributed significantly to gender-affirming care initiatives during her graduate studies at UW-Madison. Heather is now an oncology genetic counselor at SSM Health Cancer Care in Madison, WI, and is dedicated to providing inclusive, quality healthcare and genetic services.   In this segment we discuss: Specific examples and terms used in gender-inclusive language. Comfort levels of genetic counselors with using gender-inclusive language. Findings from thematic analyses on the use of gendered language and its impact on patient care. Suggestions for additional training resources for healthcare professionals. Segment 2 “Experiences of hereditary cancer care among transgender and gender diverse people: “It's gender. It's cancer risk…it's everything”   Sarah Roth is a genetic counselor and a PhD candidate in Anthropology at Johns Hopkins University. She is a BRCA1 carrier whose research focuses on the experiences of patients, communities, and providers in cancer care and genomic medicine. Sarah has been a founding editor of Tendon at JHU's Center for Medical Humanities & Social Medicine, a contributing writer at Synapsis: A Health Humanities Journal, and a recent predoctoral fellow in Bioethics at the National Institutes of Health.   In this segment, we discuss: Challenges faced by TGD individuals in accessing hereditary cancer care. Participants' perspectives on gendered language in healthcare. Actionable recommendations for healthcare providers to support TGD individuals with hereditary cancer syndromes.   Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.    For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.    Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.    DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. 

Send us a Text Message.Genetic counselors are not doctors, but they are an important part of your healthcare team. Genetic counselors are specialized in prenatal, pediatric, oncology, neurology, ophthalmology, psychiatry, and many other areasIn addition to different specialty areas, genetic counselors can have roles outside of seeing patients. Genetic counselors can work in research, education, industry, marketing, and many other roles across the healthcare and genetics fields.Connect With Kapeel GuptaWhat You May Learn0:00 Introduction1:01 Mission Statement1:10 Who is a Genetics Counselor?3:47 Scope in India and Abroad4:50 Nature of Work6:40 Skills and Educational Qualifications9:20  Salary in India and Abroad10:14  ConclusionSupport the Show.

Germline and somatic testing for  in prostate cancer can improve outcomes and promote early detection and prevention, yet many patients are not aware of testing and the impact it can have on treatment options. In this episode, CANCER BUZZ speaks with David Gill, MD, medical oncologist at Intermountain Healthcare's Intermountain Cancer Center and Lindsey Byrne, MS, LCGC, licensed certified genetic counselor at The Ohio State University Comprehensive Cancer Center, who discuss how genetic counselors and increased patient education can help cancer programs close the practice gap and promote guideline-concordant testing among patients diagnosed with prostate cancer.     “I'd really advocate—even in your patients with a negative NGS panel—please still consider getting germline testing in those patients.” –David Gill, MD   “We know that individuals, yes, they're dealing with a diagnosis of cancer, but the first thing people say to me when I sit down with them is, ‘All right, I have this figured out, but what does this mean for my family?' They're really worried about their family, and that's where our focus is, to help take care of that.”—Lindsey Byrne, MS, LCGC   David Gill, MD  Medical Oncologist   Intermountain Healthcare - Intermountain Cancer Center   Salt Lake City, Utah    Lindsey Byrne, MS, LCGC  Licensed Certified Genetic Counselor  The Ohio State University Comprehensive Cancer Center – The James Columbus, Ohio    This episode was developed in connection with the ACCC education program Germline and Somatic Testing for Mutations to Optimize Outcomes in Metastatic Prostate Cancer and is supported by AstraZeneca, Johnson & Johnson, and Pfizer.   Resources: Germline and Somatic Testing for Mutations to Optimize Outcomes in Metastatic Prostate Cancer - ACCC Abstract: Homologous recombination repair gene mutation (HRRm) testing patterns and treatment selection from a real-world cohort of patients with metastatic castration-resistant prostate cancer (mCRPC)  Abstract: Utilization of genetic counseling and testing for patients with prostate cancer following integration of a genetic counselor into a genitourinary cancer clinic 

Full disclosure, we recorded this in February, just as the Alabama Supreme Court IVF decision was handed down.  I sit down with Scott Weissman, Genetic Counselor and so much more, at the Norton & Elaine Sarnoff Center for Jewish Genetics.  Statistically we're all carriers for something in the carrier screening space, but also statistically it's very low for both partners to be carriers for the same mutation.  Interestingly, Illinois has specific issues geographically as it borders a number of states that have strict reproductive rights issues, including abortion and family planning.  We did discuss hereditary cancer, including CMMRD, constitutional mismatch repair deficiency.  We also discussed the potential Lynch Syndrome vaccines and how the current backlash against science and vaccinations could be detriments to moving forward.  We did get into socioeconomic issues, not just political and philosophical, but I think we're on a similar page.  Whatever hair we had left is gone.    

As genetic testing continues to expand, it is bringing into focus a shortage of genetic counselors who can work with patients to explain results and answer questions. Igentify is helping genetic counselors manage more patients by providing an AI-based platform that can take some of the load off of them by helping onboard patients, obtaining consents, and educating them. We spoke to Doron Behar, co-founder and CEO of Igentify, about the company's Digital Genetic Assistant, how it works, and why it will allow genetic counselors to handle a much larger volume of patients.

In this edition of "Bridging the Gap in Cancer Care Through Genetic Counseling," Editorial Member Catherine Skefos speaks with her colleague Julie Moskowitz, MS, Genetic Counselor in the Gastrointestinal (GI) Center at MD Anderson Cancer Center, about hereditary aspects of colorectal cancer, how she counsels patients and families regarding their risk of colorectal cancer and related syndromes, and how genetic testing can be used to inform screening decisions and ultimately reduce patients' risk.

I sit down with Emily Goldberg, Genetic Counselor for JScreen.  JScreen is a nonprofit that provides cancer genetics testing, but also has a reproductive carrier screening panel. Most patients choose saliva but sometimes blood is chosen by mobile phlebotomy.  JScreen which started in Atlanta, provides testing and counseling in all 50 states.  Pricing is unique because they are a non-profit.  Cancer genetics was launched 3 years ago at JScreen and the numbers have increased dramatically with people wanting to have genetic testing.  There's still wait times for cancer genetic appointments, so there's a need for services like JScreen.  Variants of Uncertain Significance still happen regularly, about 20% of the time.  Historically they get classified over time as benign.  Cascade testing, or getting other family members tested after one tests positive, continues to be an issue in the space.    

Hereditary breast cancer is a significant concern, with BRCA1 and BRCA2 mutations accounting for many inherited breast cancer cases. However, a 2018 survey by ACCC revealed the underutilization of BRCA testing, showcasing a significant gap in care. In this podcast, Joy Larsen Haidle, Genetic Counselor at North Memorial Health Cancer Center in Robbinsdale, Minnesota, and Lillie Shockney, University Distinguished Service Professor of Breast Cancer, Professor of Surgery at Johns Hopkins University School of Medicine in Baltimore, Maryland, delve into the topic of BRCA mutation testing within breast cancer care, highlighting care gaps and opportunities for improvement that were identified in the 2023 ACCC BRCA Testing Reassessment Survey.      “There are treatments that are specific for women who carry a BRCA1 or BRCA2 gene that have metastatic disease. So, by not testing them, they are not receiving the benefit of specific drugs that have been developed, that only work, for BRCA1 and BRCA2 gene mutation carriers who have advanced disease.” Lillie Shockney, RN, BS, MAS, HON- ONN-CG     “In the past 4 years in particular, the ability for patients to reach out and see a genetic counselor via telehealth has rapidly improved access for providers across the country.” Joy Larsen Haidle, MS, LCGC   Joy Larsen Haidle, MS, LCGC Genetic Counselor North Memorial Health Cancer Center Robbinsdale, MN    Lillie D Shockney, RN., BS., MAS, HON- ONN-CG University Distinguished Service Professor of Breast Cancer, Professor of Surgery Johns Hopkins University School of Medicine Baltimore, MD   Resources:   2021 ACCC Presentation on Genetic Counseling Rates at ASCO ACCC 2018 Survey Summary Report

Your Genetics are a key part of my TUSHY Method (Y = Your genetics) and I'm so honored to have Dena Goldberg (also known far and wide as Dena DNA) joining me today! Some of the questions I know you have on your mind about genetics are: Nothing came back on my 23 & Me test. I'm good to go, right? Answer: Not so fast. 23&Me relies on "SNP testing," and only looks at "very specific bookmarks on very random genes." You'll want a more thorough test for preconception screening. I don't have any history of disease in my family. Do I need to do genetic testing? Answer: It's a good idea. There are syndromes such as Lynch Syndrome that are asymptomatic in 90% of people who are carriers. You'll want to know if you have those genetic markers before passing them on to your embryo and child. Can you make sure my embryo doesn't have autism? Answer: Autism is actually a description of a constellation of symptoms. So it's not an underlying condition in and of itself. There are hundreds to thousands of genetic causes to autism. We can catch some of these cases, but not all. Autism is multifactorial, meaning that many of these cases are probably caused by a combination of genetics and environment or in other words, nature and nurture together. Thank you for joining me, Dena! Listen on Dr. Aimee's website Do you have questions about IVF? Join Dr. Aimee for The IVF Class at The Egg Whisperer School. The class includes a live class call where Dr. Aimee will explain IVF and there will be time to ask her your questions live on Zoom. Find Dena's site here: https://www.denadna.com/home Subscribe to my YouTube channel for more fertility tips! Join Egg Whisperer School Checkout the podcast Subscribe to the newsletter to get updates Dr. Aimee Eyvazzadeh is one of America's most well known fertility doctors. Her success rate at baby-making is what gives future parents hope when all hope is lost. She pioneered the TUSHY Method and BALLS Method to decrease your time to pregnancy. Learn more about the TUSHY Method and find a wealth of fertility resources at www.draimee.org.

On this episode of Managed Care Cast, Emily Goldberg, MS, CGC, genetic counselor at JScreen, breaks down how genetic screening for breast cancer works and why it is so important to increase awareness and education around these screening tools available to patients who may be at risk for cancer.

Amber Gamma is the lead genetic counselor for IVI RMA and the incoming Chair for the Genetics Professional Group of the American Society for Reproductive Medicine. She is the perfect person to tell us how to understand genetics when using donor conception to have a child. There is so much to know, and so much you can do to increase the odds of having a healthy child.  Amber walks us through many issues to consider when using donor conception to build your family.  Here are a few: • What to do when your clinic does not have an in-house genetic counselor • How to understand dominant and recessive carrier screening • The importance of weighing genetic risk with a known donor • Information to consider when you are matching your genetics with your donors' genetics • Why it is helpful to continue to attempt to get medical information from your donor or related relatives over time To learn about these subjects, and more, tune into this episode. Whether you are choosing a donor, or have already used donor conception to build your family, you will be glad you did. Xo     If you are interested in any of the topics discussed in this episode... Subscribe to the YouTube channel here: https://www.youtube.com/@thecenterforfamilybuilding You can also find me and lots of great resources at https://familybuilding.net/ Join our community, We would love to have you. https://familybuilding.net/newsletter-sign-up/ Author: Building Your Family; The Complete Guide to Donor Conception https://read.macmillan.com/lp/building-your-family/ Follow me here: Instagram: https://www.instagram.com/thecenterforfamilybuilding/ Facebook: https://www.facebook.com/thecenterforfamilybuilding/ Twitter: https://twitter.com/FamilyBuild TikTok: https://www.tiktok.com/@familybuildingcenter Looking for My Lifebook? https://a.co/d/deSACrM  

Your Genetics are a key part of my TUSHY Method (Y = Your genetics) and I'm so honored to have Dena Goldberg (also known far and wide as Dena DNA) joining me today! Some of the questions I know you have on your mind about genetics are: Nothing came back on my 23 & Me test. I'm good to go, right? Answer: Not so fast. 23&Me relies on "SNP testing," and only looks at "very specific bookmarks on very random genes." You'll want a more thorough test for preconception screening. I don't have any history of disease in my family. Do I need to do genetic testing? Answer: It's a good idea. There are syndromes such as Lynch Syndrome that are asymptomatic in 90% of people who are carriers. You'll want to know if you have those genetic markers before passing them on to your embryo and child. Can you make sure my embryo doesn't have autism? Answer: Autism is actually a description of a constellation of symptoms. So it's not an underlying condition in and of itself. There are hundreds to thousands of genetic causes to autism. We can catch some of these cases, but not all. Autism is multifactorial, meaning that many of these cases are probably caused by a combination of genetics and environment or in other words, nature and nurture together. Thank you for joining me, Dena! Listen on Dr. Aimee's website Do you have questions about IVF? Join Dr. Aimee for The IVF Class at The Egg Whisperer School. The next live class call is on Monday, October 30, 2023 at 4pm PST, where Dr. Aimee will explain IVF and there will be time to ask her your questions live on Zoom. Find Dena's site here: https://www.denadna.com/home Subscribe to my YouTube channel for more fertility tips! Join Egg Whisperer School Checkout the podcast Subscribe to the newsletter to get updates Dr. Aimee Eyvazzadeh is one of America's most well known fertility doctors. Her success rate at baby-making is what gives future parents hope when all hope is lost. She pioneered the TUSHY Method and BALLS Method to decrease your time to pregnancy. Learn more about the TUSHY Method and find a wealth of fertility resources at www.draimee.org.

Host: Denise M. Dupras, M.D., Ph.D. Guest: Jennifer L. Kemppainen, M.S., CGC With increased availability and accessibility of genetic testing, genetic counselors are playing a critical role in helping patients understand family and medical histories and genetic indications and conditions that may impact them or their loved ones. How do genetic counselors help patients to feel comfortable and understand the often-confusing world of genetic testing? Learn more in this episode of Mayo Clinic's Center for Individualized Medicine Genes & Your Health podcast miniseries featuring Jennifer L. Kemppainen, M.S., CGC, Supervisor of Genetic Counselors and Assistant Professor in Medical Genetics at Mayo Clinic in Minnesota. Connect with the Mayo Clinic's School of Continuous Professional Development online at https://ce.mayo.edu/ or on Twitter @MayoMedEd. 

Finding a diagnosis for a child with a rare condition can be challenging, even when his mother is a genetic counselor. Danielle Bonadies' son Ethan was born with a brown birthmark known as a café au lait spot. But as the spots proliferated over the next few months, his pediatrician recognized it as a potential sign of a rare, genetic disorder. It wasn't until Ethan was 2 that genetic testing led to a formal diagnosis of neurofibromatosis type 1, a genetic condition that leads the development of tumors that can affect the brain, nerves, and spinal cord. We spoke to Bonadies about caring for a child with neurofibromatosis, how her professional and private lives have been thrust together because of her son's diagnosis, and her evolution as a patient advocate.

Join Dr. Megan Morternson, Genetic Counselor, Oncology, WakeMed Cancer Care, to discuss Breast Cancer and Genetic Testing.

I sit down with Rachelle Manookian, Genetic Counselor at Children's Hospital of LA.  We discuss the transition from adult oncology at City of Hope to pediatrics, and the nuances it entails.  Rachelle and I originally met when she was a student at Mount Sinai in New York, and she's running the NYC marathon for AliveAndKickn, giving her an excuse to get back to the City.  Link to Rachelle's marathon fundraising page is at www.AliveAndKickn.org. We caught up on the good old days at Mount Sinai, as well as some NYC food digression.  Hopefully I had my Los Angeles soccer history close to being correct.  Fact check me.  

Ophthalmic genetic counselor Molly Marra and Dr. Lesley Everett discuss the pearls and pitfalls of genetic testing, especially in cases of suspected inherited retinal dystrophy. As discussed in the episode, the National Society of Genetic Counselors offers great tools to find genetic counselors who can advise you and your patients in the diagnostic journey. For all episodes or to claim CME credit for selected episodes, visit www.aao.org/podcasts.

Congratulations to everyone who matched with a genetic counseling program last week! Special shoutout to our Communications Lead, Corinne Merlino, for matching with the University of Pennsylvania! Check out DNA Today Episode #101, Genetic Counseling Match Day, to prepare you to start grad school. We also provide advice for applicants that didn't match in this cycle and offer inspiration to apply next round.In the spirit of recent matches, upcoming graduation, and DNA Day we thought it was time for another giveaway! This time we are giving away GC Genius' top two study materials: their study guide and flashcards featuring the top 100 genetic conditions to know. Enter on Instagram, Twitter, and LinkedIn before May 2nd! You can even enter on all three to increase your chances of winning. Fun Fact: The flashcards were co-created by Ashlyn Enokian, MS, CGC, who designed our DNA Today logo! She is also a genetic counselor featured on DNA Today Episodes 101, 111, 135, and 212.Can't wait to see if you won? Use the code “DNATODAY” for a discount in the GC Genius Etsy store through May 31st, 2023. —---------------------------------------------------------------------------------------------------------------------------We are going back in time in this episode of DNA Today to explore the history of the genetic counseling field. In part 1 of this 2-part series, we are focusing on the first annual conference for the National Society of Genetic Counselors which was in 1981, 54 years ago! Joining me are two rockstars in the field of GC, Michelle Fox and Debra Collins!Michelle Fox, MS, CGC, is an Adjunct Associate Professor of Pediatrics at UCLA. For over 30 years, Michelle coordinated the UCLA Genetics Clinic, providing genetic counseling services to both pediatric and adult populations, including the UCLA Predictive Huntington Disease Testing Program, early onset Alzheimer and genetic neurodegenerative disorders. She is also a faculty member of the UCLA Genetic Counseling Program. Michelle served on the Secretary's Advisory Committee for Heritable Disorders of Newborns and Children Follow-up and Treatment sub-committee and on the National Society of Genetic Counselors Public Policy Newborn Screening Task Force in 2014. She was a member of the Western States Regional Genetics Network from 2010-2013. Michelle served on the American College of Medical Genetics and Genomics Hearing Loss Guidelines Committee (2013), the American Board of Genetic Counseling Engagement Task Force (2016) and the National Society of Genetic Counselors Conflict of Interest Task Force (2017-2018). She currently serves on the Mt. Sinai Medical Center Genetic Counseling Program Advisory Board, UCLA Genetic Counseling Program Advisory Board and was a member at large of the National Society of Genetic Counselors board of directors (2019-2020). Michelle was awarded the Natalie Weissberger Paul Lifetime Achievement Award 2022 recognizing her contributions to the field of genetic counseling!Debra Collins, M.S., CGC, has been a genetic counselor at University of Kansas Medical Center for four decades. She has been working there as a genetic counselor for about four decades and her current roles include being a hereditary cancer genetic counselor, with special expertise in von Hippel-Lindau syndrome, and advisor to the genetics and neoplasia medical school curricula.. She has been an active member of the NSGC, including being a past President, serving on the Board of Directors, the Professional Status Committee and currently in the Cancer Genetics Special Interest Group. In 2006, she was awarded the Jane Engelberg Memorial Fellowship Special Award for an online course on grant writing for genetic counselors. Collins also had leadership roles in organizations such as the American Society of Human Genetics, The American Board of Genetic Counseling, and many family support / advocacy groups. Debra graduated from Sarah Lawrence College, the first genetic counseling program, with her Master's Degree in Human Genetics. She has enjoyed working as a genetic counselor every day: providing education, advocating, counseling, translating complex information, and making a difference in the lives of patients and families. On This Episode We Discuss:Why it's important to understand the history of the genetic counseling fieldWhy the year 1969 is an important one for the professionThe first annual education (NSGC) conferenceThe role of the March of DimesThe number of people who attended the first conferenceThe next few annual education conferencesWhat has changed since thenNSGC conferences todayIf you want to learn more about the history of the GC field, check out Episode 136 with Linda Robinson . Episode 31 with Robin Schwartz also gives a great overview of the field. Stay tuned for part 2 of this series with Ed Kloza and Ann Walker where we will focus on the Formation of the American Board of Genetic Counseling (ABGC).You can learn more about the past, present, and future of NSGC conferences here!Stay tuned for the next new episode of DNA Today on May 5th, 2023 where we'll be continuing this history of genetic counseling discussion by chatting about the formation of the ABGC with Ed Kloza and Ann Walker. New episodes are released every Friday. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence's “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored)Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine!By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Limited spots are available for the summer cohort starting June 5th, 2023. Click here for more information. (Sponsored)As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses grow, Porch Talks is for you. (Sponsored)

This is Part Two of my chat with Suzanne, Genetics Councelor at Fairfax Cryobank. Part one was an incredible success - you're going to love part two. Not only do we get into donor specifics, Suzanne also shares a beautiful personal story that you won't want to miss!Additional resources:Genetics Webinar by Suzanne:https://www.youtube.com/watch?v=zDdLyyIiUTQDay in the Life of our Genetic Counselor:https://fairfaxcryobank.com/blog/a-day-in-the-life-of-a-genetic-counselorThe Single Mom Mindset course:https://candicekatherine.teachable.com/p/the-single-mom-mindset-bootcamp1Additional coaching/ resources:https://candicekatherine.teachable.com/coursesSupport the show

Laynie Dratch of Penn Medicine comes onto the podcast to answer all of our burning questions about working with a genetic counselor. We loved chatting with her so much that we may need to follow up with a part 2! Let us know what other questions you have for Laynie on our episode art on instagram @remembermepodcast. A list of resources mentioned in this episode are all linked here on our blog. Laynie Dratch, ScM, CGC is a genetic counselor in adult neurology at the University of Pennsylvania in Philadelphia, PA, specializing in Frontotemporal Degeneration (FTD) spectrum disorders.  She helps families with adult-onset conditions such as FTD, Amyotrophic Lateral Sclerosis (ALS), Alzheimer's Disease (AD), and others, navigate genetic testing options and cope with their diagnoses through research and clinical encounters. Her research interests include the lived experiences of individuals with or at risk of developing FTD, issues in predictive genetic testing, and genetic counseling access and service delivery. She is a co-founder of the annual Penn Familial FTD/ALS Conference, as well as the co-founder and chair of the ALS/FTD Working Group within the National Society of Genetic Counselors. Laynie graduated summa cum laude from Colgate University with a BA in neuroscience and a minor in psychology. She completed her master's in genetic counseling at the Johns Hopkins University and the National Institutes of Health. --- Thank you to our sponsor of this episode and Season 7, ⁠⁠LearnFTD⁠⁠. LearnFTD is working to raise awareness of gene mutations in FTD and the importance of genetic testing. Visit ⁠⁠LearnFTD.com⁠⁠ for information and resources on FTD, genetics, and a video providing an overview of genetic testing and counseling. You can also follow LearnFTD on ⁠⁠Facebook⁠⁠ and ⁠⁠Instagram⁠⁠ @LearnFTD. --- ⁠⁠Remember Me⁠⁠ is a podcast created by two moms who became fast friends on Instagram while caregiving for their parents. It features stories of Frontotemporal Dementia - FTD - with a focus on remembering individuals for who they were before the disease. The stories shared are raw, real, and so full of love. We hope it inspires you to "accept the good." "Always, always, accept the good." --- Support this podcast: https://podcasters.spotify.com/pod/show/rememberme/support

This is an exciting episode that I feel so privileged to have been able to record. My char with Suzanne Seitz, Certified Genetic Counselor, at Fairfax Cryobank, was incredibly insightful. She's not only an expert in genetics but she has worked at Fairfax Cryobank for over 18 years, so she has vast knowledge in fertility and much of what us choice moms experience. This is an episode you don't want to miss!Additional resources:Genetics Webinar by Suzanne:https://www.youtube.com/watch?v=zDdLyyIiUTQDay in the Life of our Genetic Counselor:https://fairfaxcryobank.com/blog/a-day-in-the-life-of-a-genetic-counselorNew workshop Unruly Mom Talk:https://candicekatherine.teachable.com/p/unruly-mom-talkThe Single Mom Mindset course:https://candicekatherine.teachable.com/p/the-single-mom-mindset-bootcamp1Additional coaching/ resources:https://candicekatherine.teachable.com/coursesSupport the show

Our guest today is Divya Ramachandra, who is a genetic counselor and program coordinator in Chicago, practicing primarily in prenatal, pediatric, and inpatient genetics. In this episode, she provides us with a comprehensive overview of trisomy 13 (T13) and trisomy 18 (T18) and genetic counseling for these patient populations.Divya presented at the National Society of Genetic Counselors' Annual Conference this past fall titled “From Lethal to Life-Limiting: Paradigm Shift in Caring for Patients with Trisomy 13 or 18” which we covered in our NSGC 2022 recap episode (#212). She published her thesis in the Journal of Genetic Counseling on transitional challenges novice genetic counselors face after graduation. She has a strong interest in bioethics and serves on the Pediatrics Ethics Committee as well as the Genetics Ethics Service Line at her institution.On This Episode We Discuss: Symptoms of T13/T18Signs on ultrasound that a pregnancy may have T13/T18Advice for healthcare providers and GCs on how to approach conversations with people who have a pregnancy with a high chance of T13/18Decision making parents should review with a healthcare provider (delivery plans, feeding options, etc.) Moral distress and how to process this with patientsWhy we should we shift our conversations from lethal to life-limitingThe term “quality of life”How the health and survival of people with T13/18 has changed over the yearsMost common causes of death for babies with T13/18Interventions that can alter a baby's survivalPostnatal care conferences and other resourcesThe chance to have another pregnancy with T13/18 Stay tuned for the next new episode of DNA Today on March 24th, 2023, where we'll be discussing pharmacogenomics with Dr. Avni Santani! New episodes are released every Fridays. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored)

Last episode we learned about non-invasive prenatal testing (NIPT) for recessive conditions through BillionToOne's UNITY Screen. Jen Hoskovec, Senior Director of Medical Affairs at BillionToOne, is back for this episode where we are exploring NIPT for fetal antigen. Jen is BillionToOne's Senior Director of Medical Affairs.Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.On This Episode We Discuss:AntigensWhich antigens are screened for in UNITYAlloimmunization and who is at riskWhy learning fetal antigens is useful during a pregnancyPrevalence of and risks associated with HDFNHemolytic Disease of the Fetus and Newborn Sensitivity and specificity of UNITY Screen's NIPT for fetal antigenThe minimum gestational week blood for this test can be collectedHow providers can order both the UNITY for recessive conditions and fetal antigenThe average turnaround time for these testsLearn more about UNITY Screen's novel fetal antigen NIPT and the genetic conditions and fetal antigens on UNITY Screen NIPT at these links.To stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter. Stay tuned for the next new episode of DNA Today on March 3rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 224 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit perkinelmergenomics.com for more information, the link is also available in the show notes and on our website DNAtoday.com. (Sponsored)Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)

In this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne, the CEO Oguzhan Atay and the Senior Director of Medical Affairs, Jen Hoskovec. Stay tuned for our part two about their new fetal antigen NIPT! Oguzhan Atay, PhD, BillionToOne co-founder, has led the company since its inception and raised more than $200M in funding including from venture capital funds and investors who previously invested in tech companies such as SpaceX, Box, Spotify, Palantir, Braintree, and biotech companies such as Counsyl, WebMD, and Omada Health! Oguzhan received his PhD from Stanford University, where his work was published on the Cover of Cell Systems. He graduated summa cum laude and Phi Beta Kappa from Princeton University with a bachelor's in molecular biology and minors in physics, computer science, and applied mathematics.Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University.On this episode we discuss:Noninvasive prenatal testing (NIPT)What is UNITY Screen and why the name UNITY?Recessive conditions included in UNITY ScreenInformation included in a UNITY NIPT reportTest specificity and sensitivity differences between ethnicitiesHow typical carrier screening flows work differently with UNITYWhy it is helpful to have information regarding the chance a pregnancy is affected by a recessive conditionBillionToOne's plans to include more recessive conditions in UNITY ScreenTo stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter. Stay tuned for the next new episode of DNA Today on February 24th, 2023 where we continue this NIPT discussion with Jen Hoskovec focusing on screening for antigens. New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)

Dan talks with genetic counselor Paul Hudson, current President of the Ohio Association of Genetic Counselors, about a range of issues in the field. Among other things, they dive into the effects of the Dobbs decision, diversity efforts in the genetic counseling, and preventing discrimination from the use of genetic information. Interview starts at 2:20. Show notes, links, and streams at prognosisohio.com.

Genetic Counselor, and our podcast co-producer, Kira Dineen shares her insight on when to pursue genetic counseling and how genetic counselors can help people in the rare disease community. Co-producer Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her multi-award winning podcast, "DNA Today", is in the top 1% of podcasts globally. She was accepted into The Podcast Academy and has served as a Blue Ribbon Panelist for The Ambies. Kira received her Diagnostic Genetic Bachelor's of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master's of Science in Human Genetics at Sarah Lawrence College in New York and is a licensed certified genetic counselor currently practicing in Connecticut. On This Episode We Answer: When should a person or couple consider genetic counseling? Is a referral required to see a genetic counselor? Does insurance cover genetic counseling for this? Is genetic testing done before the visit? How many visits are we talking about? Do you ever suggest adoption as an option? When? How do you help people with genetic conditions? Why get tested at all? What have you learned from interviews with patients and rare disease advocates? Do you recommend joining rare disease advocacy groups? Why study rare diseases? What is CRISPR? How could this help treat…or even cure…genetic conditions? You produce a rare disease podcast that focuses on nano rare diseases. What's a nano-rare disease? Stay tuned for the next new episode of It Happened To Me! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”. It Happened To Me is created and hosted by Cathy Gildenhorn and Beth Glassman. Steve Holsonback is our media engineer and co-producer. DNA Today's Kira Dineen is our marketing lead and co-producer. Ashlyn Enokian is our graphic designer. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

A new year means a new podcast! We are thrilled to announce that our host, Kira Dineen, is a co-producer of a new rare disease and medical challenges podcast called, It Happened To Me. In celebration of the launch we wanted to share an upcoming episode of the podcast where the hosts Cathy Gildenhorn and Beth Glassman interviewed Kira Dineen. There will also be another episode on the show where they flip roles and Kira interviews Cathy and Beth about their patient advocacy and stories. Hope you enjoy this episode and be sure to subscribe to It Happened To Me in your podcast player. We would really appreciate a rating and review as well on Apple and Spotify. This is KEY for a successful launch! Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her main show, "DNA Today", is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira's interviews about genetic technology, disorders, and news. The show won the Best and Science and Medicine Podcast Awards for the last three years, among other awards. “DNA Today” has produced over 215 episodes. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing international genetic leaders. Kira produces the Patient Empowerment Program, which is a nano-rare disease podcast. She was selected and served as a member of the National Society of Genetic Counselors' Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor's of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master's of Science in Human Genetics at Sarah Lawrence College in New York and is a licensed certified genetic counselor currently practicing in Stamford, CT. On This Episode We Answer:When should people consider genetic counseling?Do you need a referral?Does insurance pay for genetic testing and counseling?Is genetic testing done before or after the visit? How many visits are typically involved for genetic counseling?What reproductive options do couples have?How do genetic counselors help people with genetic conditions?Why are the advantages of having genetic testing? What have you learned from interviews with patients and rare disease advocates?Do you recommend joining rare disease advocacy groups? Which ones?Why study rare diseases?What is CRISPR? How could this help with treatment of even cures of genetic conditions? What are nano-rare diseases?For more information check out the National Organization of Rare Disorders's Rare Disease Fact sheet. Stay tuned for the next new episode of DNA Today on January 20th! New episodes are released every Fridays. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)If you've been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I'm drinking is from Four Sigmatic. I'm really picky about my coffee, it's got to be bold, not watery. And I've been really happy with Four Sigmatic. Here's the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don't taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that's FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

We are recapping and reflecting on the National Society of Genetic Counselors 41st Annual conference, which was just held in Nashville. Some attendees joined in virtually and others, like myself, joined in person. It was incredible to meet so many of you listeners. I am already looking forward to NSGC 2023 in Chicago in October. If I didn't get a chance to say hi to you, or you couldn't attend the conference, email me at info@DNAtoday.com. I'd love to connect and also add you to our email newsletter so you can stay updated on DNA Today. Oh and don't forget to enter our giveaway from last episode for one of 5 copies of the Genome Defense. You can enter on our social media on Twitter, Instagram, LinkedIn, and Facebook all @DNATodayPodcast. Enjoy our thoughts on the conference and what we learned! I am honored to feature four outstanding genetic counselors (wish I had time to include even more). Check out their bios below including what we chatted about during their segment of the show. Monisha Sebastin, MS, CGC (She/Her) is a genetic counselor who specializes in pediatric genetics, cardiovascular genetics, and immuno-genetic conditions in New York City. She is this year's recipient of the Heart of Genetic Counseling Award that recognizes one genetic counselor every year who goes above and beyond for their patients. Monisha was a presenter at “We're Not In Kansas Anymore, Toto! International Genetic Counselors' Experiences in the US” which we chat about in this episode. Monisha continues to serve as co-chair of the USIGC sub-committee of the International Special Interest Group (SIG) and as co-chair of the Pediatric and Clinical SIG at the National Society of Genetic Counselors (NSGC). Monisha is a member of the NYCKidSeq research team and is the lead genetic counselor on her team. She volunteered as the chair of the education committee at the New York State Genetics Task Force (NYSGTF) in 2020 and 2021. You can follow Monisha on Twitter and connect with her on LinkedIn. Gabrielle Shermanski, MS, LCGC (She/Her) is a cancer genetic counselor and research coordinator at Geisinger in Pennsylvania. She earned her Master of Science in Human Genetics at Sarah Lawrence College. Gabrielle earned her Bachelor of Science in Psychology at Penn State University. We discussed the session she attended which explored the new NCCN guidelines. The updated guidelines recommend genetic testing for anyone with colorectal cancer and genetic testing for people assigned female at birth diagnosed with breast cancer 50 years or younger. You can connect with Gabby on LinkedIn. Gabrielle Ernst, MS, CGC (She/Her) is a cancer genetic counselor. She is one of the creators of Amplify Sprouted, which provides education on gender inclusive genetic counseling. Our host, Kira Dineen, was a participant in the workshop that accompanied the Amplify Sprouted content. She was one of the presenters during “Platform Presentations - Gender, Sexuality, and Identity Related to Genetic Counseling Practice” at the conference, which we chat about in this podcast episode. Gabrielle has four publications in the oncology field. She earned her Bachelor of Science in Genetics from the Ohio State University and Master of Science from the University of Michigan. You can follow Gabrielle on Twitter and connect with her on LinkedIn. Ashlyn Enokian, MS, CGC (She/Her) is a prenatal genetic counselor in Las Vegas, Nevada at a clinic with a high patient volume. She is a member of the Minority Genetic Professional Network (MPGN) and provides mentorship for genetic counseling students. Ashlyn is also the Business Liaison for GC Genius Guides. The name might be familiar with their popular Study Guide utilized by over 400 genetic counselors studying for boards and more. During the conference, GC Genius Guides launched flashcards featuring the Top 100 Genetic Conditions and sold out within 24 hours. Keep that site bookmarked and use code “DNATODAY” for a discount when they restock. Using the code helps support the podcast, so please do! And of course, she is on our DNA Today team as our graphic designer and the one to thank for our snazzy logo. You can follow Ashlyn on Twitter and connect with her on LinkedIn. Resources:NSGC International Special Interest Group's Twitter and Website. Their email is nsgcinternationalsig@gmail.comDNA Today Episode #109 Shenela Lakhani on Genetic Counseling in QatarUpdated National Comprehensive Cancer Network (NCCN) Guidelines Amplify Sprouted for Gender Inclusive Cancer Genetic Counseling (Password: Amplify21)Amplify Sprouted for Gender Inclusive Prenatal/Preconception Genetic Counseling (Password: sprouted22)DNA Today Episode #190 PhenoTips: Gender Affirming Care in Genetic Counseling (with Holden Bender-Bernstein)GC Genius Guides's Etsy page (use code “DNATODAY” for discounts, which supports the show)You can check out our previous NSGC recap episodes…Episode #111 NSGC 2019Episode #135 NSGC 2020Episode #157 NSGC 2021This episode was released early to coincide with the end of the NSGC conference. Episodes are usually released on Friday, so stay tuned for our next episode on December 2nd. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. When it comes to the quality of genetic testing, the most important aspect to consider is patient care. At Blueprint Genetics, patients come first. In order for a test to be considered high quality, it should provide valuable information for the patient. That's why Blueprint Genetics is focused on prioritizing quality and delivering answers to patients and their families. Stay tuned for our interview with Blueprint Genetics where we will define what quality genetic testing means. In the meantime, you can learn more at BlueprintGenetics.com. (SPONSORED)