Advising those affected by or at risk of genetic disorders
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Ever wondered what a genetic counselor actually does—or if you should talk to one? In this episode, Certified Genetic Counselor Laura Barton breaks it all down in simple terms. From inherited cancer risks to what your DNA can (and can't) tell you, this conversation makes genetic counseling easy to understand and incredibly empowering.Rate, Review & Follow to support Beyond Resilience. This helps us support more people and grow our community of resilient and like-minded people who want to move toward a more purposeful and healthy life.For more on Dr. Jamie Renbarger and her coaching practice, visit: https://jamierenbarger.com/For more on Catherine Haffey and her health and wellness platform, visit: https://catherinehaffey.com/For questions & comments, or to submit an episode topic request: beyondresiliencepodcast@gmail.comFollow Beyond Resilience on Instagram: https://www.instagram.com/beyondresiliencepodcast/Follow Beyond Resilience on TikTok:https://www.tiktok.com/@beyondresiliencepodcastFollow Beyond Resilience on YouTube:https: //www.youtube.com/@beyondresiliencepodcast
In this episode of Bench to Bedside, Dr. Roy Jensen, vice chancellor and director of The University of Kansas Cancer Center, sits down with Dr. Rebecca Whelan, an associate professor of chemistry at the University of Kansas and member of KU Cancer Center's Cancer Biology research program. The discussion focuses on the limitations of the CA125 blood test for ovarian cancer detection and Dr. Whelan's groundbreaking research, which reveals new insights into the structure of the CA125 protein. Dr. Whelan explains how new DNA sequencing technologies and artificial intelligence, specifically the Alpha Fold program, have helped her team improve the understanding and detection of ovarian cancer. Additionally, Dr. Whelan talks about collaborative efforts to identify new biomarkers for early diagnosis of ovarian cancer and shares advice for young scientists interested in making a difference in medicine through chemistry. Do you have questions about cancer? Call our Bench to Bedside Hotline at (913) 588-3880 or email us at benchtobedside@kumc.edu, and your comment or question may be shared on an upcoming episode! If you appreciated this episode, please share, rate, subscribe and leave a review. To ensure you get our latest updates, For the latest updates, follow us on the social media channel of your choice by searching for KU Cancer Center. Links from this Episode: Learn more about Dr. Whelan's research into CA125 Learn more about ovarian cancer Read about ovarian cancer screening and diagnosis at KU Cancer Center Learn more about Dr. Rebecca Whelan
In this episode of We Talk Health Podcast, Ashlee Vargason, a genetic counselor with Kirkland Cancer Center is here to talk all about DNA Day and genetic counseling.What is genetic counseling and how does it play a role in cancer research, prevention and treatment? Find out all this and more in this podcast episode!Guest:Ashlee Vargason, MGC, LCGCKirkland Cancer Center, Genetic CounselorHost:Kara MobleySocial Media CoordinatorResources:About DNA Day
In this episode we feature 2 articles that explore hot topics in genetics as well as opportunities to improve patient care in honor of DNA Day on April 25. DNA day commemorates the completion of the Human Genome Project and the discovery of DNA's double helix. Both of these studies utilize qualitative methodologies to highlight people's experiences and share their stories. Segment 1: Not Parent Expected” results through direct-to-consumer genetic testing Julia Becker (she/her) is a board-certified genetic counselor and CSU Stanislaus Genetic Counseling Program graduate. She has a strong interest in the ethical, psychological, and social implications of genetic testing, particularly in the context of unexpected parentage discoveries. Julia is the first author of the article, "Experiences of Individuals Receiving ‘Not Parent Expected' Results Through Direct-to-Consumer Genetic Testing," published in the Journal of Genetic Counseling. She presented this research at the American College of Medical Genetics and Genomics (ACMG) Annual Conference in 2021, contributing to the ongoing dialogue on the impact of unexpected genetic findings. Her work focuses on supporting individuals navigating complex genetic discoveries and advancing awareness within the genetic counseling community. In this segment we discuss: - The rise in Not Parent Expected (NPE) discoveries through direct-to-consumer genetic testing and what it means to receive this result. - Key emotional themes from interviews with 25 participants, including identity disruption, grief without death, and shifting family dynamics. - How a background in genetic counseling informed a sensitive and in-depth interview approach. - The emotional motivations behind seeking out biological relatives and the varied outcomes of those efforts. - The need for improved informed consent and follow-up care from DTC companies. Segment 2: Transgender and gender diverse patients' experiences with pregnancy-related genetics discussions: A qualitative study Jaime Schechner (she/her) works as a neurology genetic counselor at Boston Children's Hospital. She completed her Master of Science in Genetic Counseling at Boston University, and previously worked as a genetic counseling assistant at Beth Israel's Maternal Fetal Medicine Center. Darius Haghighat (he/him) is a reproductive genetic counselor at Boston Medical Center and an Assistant Professor of Obstetrics and Gynecology at Boston University Chobanian & Avedisian School of Medicine. He has prior experience as a cancer genetic counselor as well. He completed his Master's in Genetic Counseling at Boston University. As a queer genetic counselor he is especially passionate about LGBTQIA+ health equity. In this segment we discuss: - The inspiration behind focusing the study on pregnancy-related genetic counseling experiences among trans and gender diverse (TGD) individuals. - Major gaps in reproductive healthcare for TGD patients, including misgendering, binary language, and lack of provider knowledge. - Participant stories about feeling unseen or misgendered, and discussed the emotional impact of these encounters. - Frustrations with terms like "maternal" and "advanced maternal age," and suggested inclusive alternatives for clinical language. - Moments of affirming care, showing how small gestures can have a powerful impact across the healthcare journey. - The need for systemic change, including inclusive policies, provider education, and future research that centers TGD voices. 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.
Erica Peacock, PhenoTips' in-house genetic counselor and Genetics Workflow Consultant, demonstrates the practical application of PhenoTips' pedigree software in a mock genetic counseling session featuring genetic counseling student, Ariel Modeste, as the "Patient". Following the mock genetic counseling session, DNA Today's Kira Dineen moderates and guides an audience Q&A addressing various aspects of PhenoTips' pedigree software.Throughout the mock session and following discussion, Kira, Ariel, and Erica address:How the pedigree builder is used in genetic counseling practiceThe pedigree builder's relationship to patient & family recordsCommonly asked questions about the pedigree builder considerationsTips & tricks for using the pedigree builder
Send us a text Lauren Giannetti-Safaza, a genetic counselor from New Jersey, shares her journey transitioning from clinical practice to industry and discusses the evolution of genetic counseling roles. Throughout the conversation, she offers insights into balancing professional responsibilities and personal experience as a pregnant genetic counselor preparing for childbirth. • Clinical burnout as a catalyst for moving to industry positions • Shifting perceptions of industry roles from "the dark side" to valuable career paths • Potential for broader patient impact through industry versus direct clinical care • Balance between job security in public health versus higher compensation in industry • Implementing gender-inclusive care in genetic testing companies • Evolution of non-invasive prenatal testing (NIPT) and the rise of "gender reveal" culture • Point-of-care genetic testing models in cancer care • Need for genetic counselors to support clinician-ordered testing • Balancing ideal practices with practical realities in genetic healthcare delivery Support the show Demystifying Genetics is sponsored by TrakGene https://www.trakgene.com/
Send us a textHow can genetic counselling shape your fertility journey? In this episode, we sit down with Meaghan Doyle, a certified genetic counsellor, to unravel the crucial role of genetics in fertility care. From understanding sperm and egg genetics to navigating preimplantation genetic testing (PGT), Meaghan sheds light on how genetic screening can help manage pregnancy loss, prevent hereditary conditions, and improve family-building options. We also explore the latest genetic tests available in clinics across Canada, their benefits, and their limitations—giving you the knowledge to make informed decisions on your path to parenthood. Don't miss this deep dive into one of the most important (yet often misunderstood) aspects of fertility care!More about our guest speaker: Meaghan Doyle, MS, CGC (she/her) is a Certified Genetic Counselor and Founder of DNAide Genetic Counselling. She started her fertility genetics career as a genetic counsellor at a fertility clinic in Ontario. It was there that she recognized that most fertility clinics don't have genetic counsellors on staff, and that patients were being let down without access to these important members of their care team. She founded DNAide Genetic Counselling to help make access to fertility genetic counsellors more accessible to patients and clinicians. Meaghan has expertise in Preimplantation Genetic Testing, mosaicism in embryos, and genetic causes of infertility. She is passionate about helping fertility patients by providing them with evidence-based information and ensuring that they are fully supported to make decisions that will be best for them and their families. She obtained her undergraduate degree in Genetics and Psychology from the University of Toronto and her Master of Science in Genetic Counseling from Arcadia University in Philadelphia.Website: https://www.dnaide.com/Instagram (Professional): https://www.instagram.com/meaghandoylegc/Instagram (Business): https://www.instagram.com/dnaidegc/Facebook: https://www.facebook.com/people/DNAide-Genetic-Counselling/100078857473052/If you or your organization would like to sponsor educational episodes just like this, please contact us at podcast@fertilitymatters.ca. Follow Fertility Matters Canada at @fertility_canada on Instagram and TikTok.
This week on The Genetics Podcast, Patrick is joined by Matt Burgess, genetic counselor, host of the Demystifying Genetics podcast, and Adjunct Professor at Bay Path University. They discuss the evolution of genetic counseling, ethical challenges in gene therapy, and Matt's experiences with his podcast.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Matt02:09 Matt's run-ins with Olivia Newton John while working at Austin Hospital in Melbourne04:34 Matt's background and path to genetic counseling 06:58 The evolution of the field of genetic counseling over time and the role of counselors12:47 Matt's work on rare disease AP-4 hereditary spastic paraplegia (AP-4-HSP) and the ethical considerations of gene therapy20:22 Balancing the needs and expectations of individuals and families in counseling 23:06 Rebranding negative connotations of the word “counseling” 26:58 Memorable episodes from Matt's podcast Demystifying Genetics34:31 Differences in genetic counseling and healthcare in the US versus Australia and the UK40:00 Matt's current work on writing a novel, starting a company called Rosalind Genetics, and being involved in genetic education42:47 The potential and drawbacks of AI models in the context of genetic counseling and information46:46 Closing remarksFind out moreDemystifying Genetics (https://demystifying-genetics.buzzsprout.com/)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
Send us a textScott Weissman shares his journey of building a telehealth genetic counseling private practice, discussing the challenges of insurance contracts, licensing across states, and adapting to technological changes in cancer genetics.• Opened private practice in 2016 as a side business, now seeing 15-20 patients weekly• Despite having licenses in 25-26 states, establishing insurance contracts remains a major obstacle• Pivoted to 100% telehealth during the pandemic, offering after-hours and weekend appointments• Medicare recognition would be a game-changer for private practice genetic counselors in the US• Excited about emerging technologies like long-range sequencing that could "fill in the gaps" for what we've been missing• Works with the Norton and Elaine Sarnoff Center for Jewish Genetics providing education and carrier screening• Carrier screening has evolved from testing for 6 conditions to 267 conditions over two decades• Once gave Dr. Henry Lynch (namesake of Lynch syndrome) a "very small manicure" by cutting off his hangnailSupport the showDemystifying Genetics is sponsored by TrakGenehttps://www.trakgene.com/
In this episode, we are discussing 2 articles focused on cardiovascular genetics. In the first segment, Khalida talks to authors Marianne and Erin about their research exploring the opportunities for downstream revenue of cardiac genetic counseling services in a pediatric medical center. In the second segment, Naomi chats with Jodie and Erin about the recent NSGC Practice Resource about genetic testing and counseling for hypertrophic cardiomyopathy. Segment 1: Cardiac genetic counseling services: Exploring downstream revenue in a pediatric medical center Marianne Olson, MS, CGC is a genetic counselor at Baptist Health in Kentucky. She provides prenatal genetic counseling at Maternal Fetal Medicine clinics in Louisville and Lexington. Marianne graduated from the Cincinnati Genetic Counseling Graduate Program in 2024. Prior to working as a genetic counselor, Marianne taught high school chemistry and biology for 12 years. Erin Miller is an Associate Professor in the University of Cincinnati College of Medicine. Erin is a genetic counselor IN THE DIVISION OF CARDIOLOGY at Cincinnati Children's Hospital Medical Center. She leads the cardiology genetic counseling team in providing genetic counseling services to individuals of all ages with and at risk for cardiovascular disease. Erin is focused on improving access to genetics services for families with inherited cardiovascular diseases. In this segment we discuss: - What sparked the decision to explore downstream revenue (DSR) in a cardiac genetic counseling setting - Financial challenges institutions face when hiring genetic counselors, especially around reimbursement - The role of genetic counseling in reducing costs by guiding risk stratification and avoiding unnecessary testing - Limited uptake of cardiac screening among at-risk relative and strategies that could help improve adherence - How findings from this study can support the case for sustaining genetic counseling roles within pediatric cardiology - Potential to adapt the study's methodology to other specialties like neurology or prenatal genetics, and considerations for doing so Segment 2: Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors Erin Miller (she/her) is an Associate Professor in the College of Medicine at the University of Cincinnati and a cardiac genetic counselor at Cincinnati Children's Hospital Medical Center in the Division of Cardiology. She leads the cardiology genetic counseling team in providing genetic counseling services to individuals of all ages with and at risk for cardiovascular disease. Erin is focused on improving access to genetics services for families with inherited cardiovascular diseases. Associate Professor Jodie Ingles (she/her) is Head of the Clinical Genomics Laboratory and Program Director of Genomics and Inherited Disease Program at Garvan Institute of Medical Research. She is a cardiac genetic counsellor in the Department of Cardiology, Royal Prince Alfred Hospital Sydney. Her team is focused on using genomics to improve diagnosis and care of families with inherited cardiovascular diseases. In this segment we discuss: - The motivation behind creating an official practice resource focused on genetic testing and counseling for HCM - Deep dive into the first major recommendation: offering genetic testing to all individuals with a suspected or confirmed diagnosis of HCM, paired with appropriate genetic counseling - Exploration of the second recommendation: ensuring that genetic tests are selected, ordered, and interpreted within the context of genetic counseling, and the complexities that come with this process - Discussion of the third recommendation: providing cardiac and cascade genetic testing to at-risk relatives, without age limitations, and why this is critical for effective family-based care - A look at the barriers to integrating genetic services into cardiology practices, especially in settings without dedicated genetics expertise 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.
Gina Davis is the founder of Advocate Genetics and a co-founder of EM•POWER with Moxi, an education company dedicated to empowering choice in embryo donation. I'm so honored to have her joining me today on The Egg Whisperer Show podcast! Gina is passionate about impacting the growing field of genetic counseling, and has worked tirelessly to train new genetic counselors, and provide a strong foundation for fertility patients. A former fertility patient herself, she understands the challenges patients face as they try to make sense of the rapid advancements in genetics and fertility medicine, and works hard to help doctors and patients make educated decisions about their options. In this discussion, we'll be talking about genetic counseling, how it impacts the fertility world, reasons to seek genetic counseling, and what to consider about genetic testing results. Read the full show notes on Dr. Aimee's site. Visit Gina Davis' site at EM•POWER with Moxi. Would you like to learn more about IVF?Click here to join Dr. Aimee for The IVF Class. The next live class call is on Monday, April 21, 2025 at 4pm PST, where I will explain IVF and there will be time to ask me your questions live on Zoom. Sign up at EggWhispererSchool.com Follow on Apple Podcasts Follow on Spotify Subscribe to my YouTube channel for more fertility tips!Join Egg Whisperer School 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.
Welcome to this week's exciting episode of The Power of Owning Your Career Podcast! I'm thrilled to bring you a dynamic and insightful conversation with Kira Deneen, a seasoned genetics counselor and the brilliant mind behind the popular DNA Today podcast. And here's a special treat – this was a live recording! Head over to our YouTube Channel to watch the full episode. We're diving deep into Kira's fascinating career journey, exploring how her early passion for podcasting, sparked back in 2012, has seamlessly intertwined with her work in genetics. Listen as she shares her experiences on the profound impact of networking, overcoming career jitters, and the crucial role of consistent hard work. Kira also unpacks the unique insights she's gained from bridging her podcasting and scientific worlds, offering invaluable takeaways for anyone eager to accelerate their career. Whether you're curious about genetics counseling or simply seeking inspiration to own your career journey, this conversation is sure to leave you motivated and ready to take the reins of your professional life. Join us for an exhilarating and informative episode! Connect with our guest, Kira Dineen, at https://www.linkedin.com/in/kiradineen/ Connect with the show's host, Simone E. Morris, at https://www.linkedin.com/in/simonemorris/. To apply to be a guest on the show, visit bit.ly/pooycshowguest. ✴️ Get More Support for Your Career:
In our final episode of the season, we discuss the counselling issues and interventions raised in episode 4: insurance, and have guest input from insurance expert Dr Jane Tiller. Support us by buying a coffee: https://buymeacoffee.com/gcchatpod Sound engineer: Shaun Allen You will find suggestions for support, our privacy statement and disclaimer, and more information about topics referenced in our discussion on our website. https://gcchatpodcast.libsyn.com/ You can find us on Instagram, Facebook and Bluesky. Join the discussion with #GCchatpodcast References mentioned in our discussion: Centre for Genetics Education fact sheet: Life Insurance Products and Genetic Testing in Australia. https://www.genetics.edu.au/SitePages/Life-insurance-products-and-genetic-testing-in-Australia.aspx Clarke & Wallgren-Pettersson (2019). Ethics in genetic counselling. Journal of Community Genetics https://doi.org/10.1007/s12687-018-0371-7 The DNA Screen study: https://dnascreen.monash.edu/index.html Human Genetics Society of Australasia Code of Ethics: https://www.hgsa.org.au/common/Uploaded%20files/pdfs/policies,%20position%20statements%20and%20guidelines/genetic%20counselling/Code%20of%20Ethics%20for%20GC.pdf [original]; https://hgsa.org.au/common/Uploaded%20files/pdfs/policies,%20position%20statements%20and%20guidelines/members%20only%20policies/HGSA%20Code%20of%20Ethics-%20Guideline.pdf [updated] Keenan, et al., (2013). How Do Partners Find out About the Risk of Huntington's Disease in Couple Relationships? Journal of Genetic Counseling https://doi.org/10.1007/s10897-012-9562-2 MacLeod et al., (2013). Editorial Committee and Working Group ‘Genetic Testing Counselling' of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington's disease. Clinical Genetics https://doi.org/10.1111/j.1399-0004.2012.01900.x Reeder, et al.,(2017). Characterizing Clinical Genetic Counselors' Countertransference Experiences: an Exploratory Study. Journal of Genetic Counseling https://doi.org/10.1007/s10897-016-0063-6 Tiller, et al., (2023). Final Stakeholder Report of the Australian Genetics and Life Insurance Moratorium: Monitoring the Effectiveness and Response (A-GLIMMER) Project. Monash University. https://doi.org/10.26180/23564538.v1 Updates regarding the ban on the use of adverse genetic testing results on life insurance: https://treasury.gov.au/consultation/c2025-626785 ; https://ministers.treasury.gov.au/ministers/stephen-jones-2022/media-releases/total-ban-use-adverse-genetic-testing-results-life
Most pregnancies result in healthy babies. However, moms-to-be are offered prenatal testing as a way to determine if there are any known abnormalities in the growth and development of their unborn child. What are the benefits and risks of prenatal testing? What tests are you offered and when? And how can genetic counseling help you through the process? Learn more about your ad choices. Visit megaphone.fm/adchoices
In our penultimate episode of the season, we begin by discussing the counselling issues and interventions raised in episode 3: Opening the envelope. We'll then present this week's case, where the GC faced a difficult situation in predictive test counselling for an adult-onset condition without any treatments. Support us by buying a coffee: https://buymeacoffee.com/gcchatpod Sound engineer: Shaun Allen You will find suggestions for support, our privacy statement and disclaimer, and more information about topics referenced in our discussion on our website. https://gcchatpodcast.libsyn.com/ You can find us on Instagram, Facebook and Bluesky. Join the discussion with #GCchatpodcast References mentioned in our discussion: Crook et al., (2022). Genetic counseling and testing practices for late-onset neurodegenerative disease: A systematic review. Journal of Neurology. https://doi.org/10.1007/s00415-021-10461-5 Guimarães, et al. (2013). What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand's Perspective. Journal of Genetic Counseling https://doi.org/10.1007/s10897-012-9561-3 Howard, et al., (2024). Experiences of predictive genetic testing in inherited motor neuron disease: Findings from a qualitative interview study. Journal of Genetic Counseling. https://doi.org/10.1002/jgc4.1904 MacLeod et al., (2013). Editorial Committee and Working Group ‘Genetic Testing Counselling' of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington's disease. Clinical Genetics. https://doi.org/10.1111/j.1399-0004.2012.01900.x Vears, et al., (2020). Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children. Twin Research and Human Genetics. https://doi.org/10.1017/thg.2020.51
This week we're joined by Director of Research in Human Genetics, Laura Hercher. In addition to establishing a healthy work-life balance, Tim and Laura discuss the wide-ranging consequences of treating embryos as people, when life begins, how the process of Genetic Counseling works, and what's a big way genetics plays a role in our lives that we're largely ignorant of.Follow Sarah Lawrence College on Instagram, Facebook, Vimeo, YouTube, andLinkedIn.And give this podcast a five star rating and review in Apple Podcasts or follow us on Spotify. Thanks for listening!
In this episode, we begin by discussing the counselling issues and interventions raised in episode 2: Countertransference. We'll then present this week's case, where the genetic counsellor experienced their first predictive testing results disclosure in neurogenetics. Support us by buying a coffee: https://buymeacoffee.com/gcchatpod Sound engineer: Shaun Allen You will find suggestions for support, our privacy statement and disclaimer, and more information about topics referenced in our discussion on our website. https://gcchatpodcast.libsyn.com/ You can find us on Instagram, Facebook and Bluesky. Join the discussion with #GCchatpodcast References mentioned in our discussion: Clark, (2010). Life as a pregnant genetic counselor. Journal of Genetic Counseling https://doi.org/10.1007/s10897-010-9283-3. Clark, (2012). Life as a pregnant genetic counselor: take two. Journal of Genetic Counseling https://doi.org/10.1007/s10897-011-9411-8. Kessler, (1992). Psychological aspects of genetic counseling. VIII. Suffering and countertransference. Journal of Genetic Counseling https://doi.org/10.1007/BF00962826. Menezes et al., (2010). “It's Challenging on a Personal Level”—Exploring the ‘Lived Experience' of Australian and Canadian Prenatal Genetic Counselors. Journal of Genetic Counseling https://doi.org/10.1007/s10897-010-9315-z Menezes, (2012). Commentary on “Life as a Pregnant Genetic Counselor: Take Two”. Journal of Genetic Counseling https://doi.org/10.1007/s10897-011-9413-6 Menezes et al., (2013), “Taking Its Toll”: The Challenges of Working in Fetal Medicine. Birth https://doi.org/10.1111/birt.12029 Porges, (2017). The pocket guide to the polyvagal theory: the transformative power of feeling safe. USA: Norton & Company. Redlinger-Grosse, (2020). Countertransference. In Genetic Counseling Practice (eds B.S. LeRoy, P.M. Veach and N.P. Callanan). https://doi.org/10.1002/9781119529873.ch8 Rietzler, et al. (2018). Perceived Changes to Obstetric Care and the Integration of Personal and Professional Life as a Pregnant Prenatal Genetic Counselor. Journal of Genetic Counseling, https://doi.org/10.1007/s10897-018-0210-3
In this episode we are exploring rare and ultra-rare disease in honor of Rare Disease Day on February 28 which raises awareness for the 300 million people worldwide living with a rare disease. We are talking with one author about their study on the role of digital tools in rare disease management and another author about their research into experiences of parents who have a child with an emerging-ultrarare disorder. Segment 1: Exploring the role of digital tools in rare disease management: An interview-based study Andrea Chang works as a Genomic Science Liaison at Quest Diagnostics and earned her MS in Genetic Counseling from UCLA's inaugural genetic counseling class. In this segment we discuss: The role of digital tools in healthcare management for rare diseases Real-world examples of existing digital tools for the rare disease community The impact of rare disease on the global population The healthcare gaps currently not addressed by digital tools Recommended digital tool features Segment 2: The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders Bethany Stafford-Smith works clinically as a genetic counsellor at University Hospitals of Leicester. She also works for Great Ormond Street Hospital as a Research Genetic Counsellor. In this segment we discuss: The definition of emerging ultra rare disorders or E-URD Experiences of parents with children diagnosed with an E-URD Parents' perceptions on the utility of a diagnosis Challenges faced by parents seeking medical and social support after receiving an E-URD diagnosis for their child How researchers and healthcare providers can support advocacy in E-URDs 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, we begin by discussing the counselling issues and interventions raised in episode 1: Ethical Conflicts. We'll then present this week's case, where the genetic counsellor encountered countertransference. Support us by buying a coffee: https://buymeacoffee.com/gcchatpod Sound engineer: Shaun Allen You will find suggestions for support, our privacy statement and disclaimer, and more information about topics referenced in our discussion on our website. https://gcchatpodcast.libsyn.com/ You can find us on Instagram, Facebook and Bluesky. Join the discussion with #GCchatpodcast References mentioned in our discussion: Crook, et al., (2022). Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences. Journal of Genetic Counseling, https://doi.org/10.1002/jgc4.1591 Crook, et al., (2021). Patient and relative experiences and decision-making about genetic testing and counseling for familial ALS and FTD: A systematic scoping review. Alzheimer Disease & Associated Disorders https://doi.org/10.1097/WAD.0000000000000458 May & Spellecy, (2006). Autonomy, full information and the right not to know. European journal of health law, 6(2), 119-132 World Health Organisation Meeting on Ethical Issues in Medical Genetics (1997: Geneva, Switzerland) & WHO Human Genetics Programme. (1998). Proposed international guidelines on ethical issues in medical genetics and genetic services: report of WHO meeting on Ethical Issues in Medical Genetics. https://iris.who.int/handle/10665/63910. Vears et al., (2020). Human Genetics Society of Australasia Position Statement: Predictive and Pre-symptomatic Genetic Testing in Adults and Children. Twin Research and Human Genetics.https://doi.org/10.1017/thg.2020.51
Welcome to season 4 of GC Chat Podcast! In this episode, we introduce our first case of the season, which raised several ethical issues for the genetic counsellor. Reflections will follow in our next episode. Support us by buying a coffee: https://buymeacoffee.com/gcchatpod Sound engineer: Shaun Allen You will find suggestions for support, our privacy statement and disclaimer, and more information about topics referenced in our discussion on our website. https://gcchatpodcast.libsyn.com/ You can find us on Instagram, Facebook and Bluesky. Join the discussion with #GCchatpodcast References mentioned in our discussion: Gould & Griffin (2017). Karyomapping and how is it improving preimplantation genetics? Expert Rev Mol Diagn. https://doi.org/10.1080/14737159.2017.1325736. Handyside et al., (2010). Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes, Journal of Medical Genetics. https://doi.org/10.1136/jmg.2009.069971 National Health and Medical Research Council (NHMRC) (2017). Ethical guidelines on the use of assisted reproductive technology in clinical practice and research 2017 (updated 2023). Canberra: National Health and Medical Research Council. www.nhmrc.gov.au/guidelines-publications/e79
In this highlight Alekhya shares with us the world of genetic testing and counseling, and how individuals can navigate the wealth of information revealed by their DNA. In particular the role of genetic counselors in guiding patients through the process, the emotional impact of learning about genetic predispositions, and how epigenetics plays a crucial role in disease prevention.Learn more about Genetic Counseling: https://gene-linx.com/Listen to the full episode:SpotifyApple PodcastYoutube Get in touch with AlanaFree resources: https://alanabonnemann.com/resourcesIf you want to get laser-focused on your individual needs, book a free 1:1 Wellness Chat: https://alanabonnemann.com/ready-to-get-started/
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
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.
Dr. Andrew Nish is joined by Isabella Holland, MS, LCGC, and Caroline Williams, MS, LCGC, who are both genetic counselors at John Stoddard Cancer Center! They dive into what genetic counseling is and the rapid changes that are happening in the world of genetic testing.
We kick off 2025 on Raise the Line by sharing some good news for providers struggling to keep up with the growing number of applications for genomic testing: a new book from Elsevier Science Direct has been designed to arm you with the knowledge you need. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counselingdives into the use of this important tool in diagnosis and screening, indicating how individuals may respond to drug therapies, and more. “We really need to educate all healthcare providers about the practice of genetics because they're going to be involved directly or indirectly in genetic testing and conveying information about what the results mean to patients and their families,” explains co-author Dr. Ethylin Wang Jabs, enterprise chair of the Department of Clinical Genomics for Mayo Clinic. Jabs and her co-author, Dr. Antonie Kline, director of Clinical Genetics at the Harvey Institute for Human Genetics at Greater Baltimore Medical Center, chose a format that makes heavy use of case studies to help readers get a better grasp on this complicated field and they also include chapters on direct-to-consumer testing and the ethical and social implications in genomic medicine. “Any kind of potentially predictive testing can have ethical issues related to it, including insurance coverage, testing for family members, protections for minors, and more,” says Dr. Kline. Join host Caleb Furnas for an illuminating episode on an area of discussion in medicine that's growing in importance as the use of genetic testing rapidly increases.Mentioned in this episode: Genomics in the Clinic: A Practical Guide
*Trigger Warning: This episode discusses cancer risk, genetic testing, and preventative surgeries, which may be emotionally heavy for some listeners.*Hello, everyone! This week I'm talking with Jade, a dedicated career woman, wife, mother, and passionate advocate, to explore her deeply personal journey with the BRCA2 genetic mutation. From receiving life-changing news to navigating difficult choices, Jade shares how this revelation has empowered her to become a voice for cancer prevention and early detection.In this episode:Jade's emotional journey after receiving a BRCA2 diagnosisHow genetic testing can empower proactive health decisionsThe importance of support groupsWhy genetic testing matters for both women and men The psychological toll of genetic testing and the need for therapyDifferent options to explore before and after genetic testingThank you so much for listening! Don't forget to share on your social media and tag me if you loved this episode!ResourcesFORCE - Facing Hereditary Cancer Empowered: https://www.facingourrisk.org/Corewell Dearborn's Genetic Counseling: https://www.beaumont.org/services/genetics/general-adult-geneticsFind it Early Act: https://www.votervoice.net/mobile/FORCE/Campaigns/106840/RespondConnect with Jade!Instagram: @JadeNicoleOrtizSupport the showConnect with Rachel!Instagram: @The_Rachel_MaineWebsite: https://linktr.ee/WellnessSexpertiseYouTube: YouTube.com/@OwningYourSexualSelfFacebook: Rachel MaineEmail: therachelmaine@gmail.com
Send us a textHow do you make an informed decision if your baby may be born with a life threatening illness. Genetic diseases can be heart wrenching.Kira Dineen joins us to discuss the challenges surrounding genetic diseases and the sometimes difficult decisions parents have to make. We will also talk about the revolutionary gene editing tool, CRISPR, that is clustered regularly interspaced short palindromic repeats”. What is that? Join us to find out. Please don't forget to hit the like button and subscribe at natureandsciencepodcast.comShe is the host of the podcast DNA Today. She started “DNA Today: A Genetics Podcast” in 2012 which also became a radio show in 2014. The podcast has since produced over 140 episodes interviewing experts in the field. “DNA Today” won the Best 2020 Science and Medicine Podcast Award along with four other nominations. 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. She is the host of the PhenoTips Speaker Series and currently practices as a genetic counselor in a high risk prenatal private practice.She is here today to discuss genetic testing, the Nobel Prize winning CRSPR gene editing technique and the to talk about the overall quality and safety of DNA testing by such companies as 23&Me and Ancestry.com. Kira, Welcome to the program.https:/natureandsciencepodcast.com#podmatch
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.
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 week's episode of then & now, we present a recording of a recent event hosted by the UCLA History Department, "Why History Matters: Reproductive Rights and Justice." This event brought together experts to explore the far-reaching effects of the Dobbs v. Jackson Women's Health Organization decision in June 2022. Hosted by Kevin Terraciano, the conversation delves into the historical misuse of legal doctrines to limit reproductive freedoms and calls for a comprehensive reproductive justice framework that extends beyond abortion to include the right to have or not have children and to raise children in safe environments. Professor Cary Franklin critiques the Supreme Court's "history and tradition" test in Dobbs, arguing it distorts historical perspectives on liberty and equality, while Dean Alexandra Minna Stern discusses the lasting impacts of eugenic sterilization on marginalized groups, emphasizing how patterns of reproductive oppression persist today. Professor Elizabeth O'Brien examines Mexico's recent Supreme Court rulings decriminalizing abortion and highlights grassroots activism's role in shaping a broader framework for reproductive rights in Latin America. In the U.S., maternal mortality and preventable deaths have risen sharply since the Dobbs decision, underscoring the panel's call for historical research to inform advocacy as surveillance and criminalization of reproductive health grow. Through these comparative perspectives, the discussion powerfully illustrates how understanding historical contexts can guide efforts to protect and expand reproductive rights in the U.S.Kevin Terraciano is a Professor and the Department Chair of History at UCLA. He specializes in Latin American history, especially Mexico and the Indigenous cultures and languages of central and southern Mexico. Among many books and translations, he is the author of The Mixtecs of Colonial Oaxaca: Ñudzahui History, Sixteenth through Eighteenth Centuries, a comprehensive study of Mixtec society and their adaptation to colonial rule.Cary Franklin is the McDonald/Wright Chair of Law at UCLA and serves as the faculty director of the Williams Institute at UCLA as well as the Center on Reproductive Health, Law, and Policy. Her work has appeared in numerous publications including the Harvard Law Review, the Michigan Law Review, the NYU Law Review, the Supreme Court Review, the Virginia Law Review, and the Yale Law Journal.Alexandra Minna Stern is a professor of English and history and the Dean of UCLA's Division of Humanities. She co-directs the Sterilization and Social Justice Lab, which studies eugenic sterilization practices in the U.S. and their impact on marginalized groups. She is the author of the award-winning Eugenic Nation: Faults and Frontiers of Better Breeding in Modern America, and the author of Telling Genes: The Story of Genetic Counseling in America, which was named a Choice 2013 Outstanding Academic Title in Health Sciences.Elizabeth O'Brien is an Assistant Professor in the UCLA Meyer and Renee Luskin Department of History, specializing in the history of reproductive health in Mexico. Professor O'Brien is also a member of the cross-field group in the History of Gender and Sexuality. Professor O'Brien's 2023 book on colonialism and reproductive healthcare in Mexico, Surgery and Salvation: The
Dr. Tshaka Cunningham, the chief scientific officer at Polaris Genomics and head of the Faith-Based Genetics Research Institute shares his expertise in molecular biology and genetics, focusing on epigenetics and longevity. The discussion centers around how lifestyle choices can influence our genetic makeup, potentially leading to slower aging and improved longevity. Discover how incorporating mindfulness and simple lifestyle changes can alter your genetic destiny. Plus, don't miss the announcement of Jon and Will's upcoming micro dose series, launching on November 5th, featuring bite-sized clips of their most powerful content for inspiration and wisdom. !!HELP NEEDED!! Polaris Genomics is conducting clinical trials to validate their PTSD genetic screening test. They are hoping to recruit 1000 participants for this study (500 with PTSD (cases) & 500 without PTSD (controls)) over the next 18 months... here's the website for more information: https://polarisgenomics.com/our-platform/current-trials/ Tune in for a raw, eye-opening episode that challenges the hustle mindset and offers a fresh take on what it means to truly thrive! Thanks to our SPONSORS: KARAMBIT TACTICAL KNIVES: These knives are more than just tools; they're a testament to precision and reliability. Learn more at Karambit.com AGOGE HEMP PROTEIN Supplement: A revolutionary new product that delivers exceptional nutrition for your wellness journey. www.agoge.life Become a sponsor, help us keep this mission alive ➡️ Head to mentalkingmindfulness.com Don't forget to visit our website, mentalkingmindfulness.com, for more information and resources. Sign up for our upcoming nine-week meditation courses starting October 6th to deepen your mindfulness practice. Text MTM to 33777 for more information and updates. Time stamps: (00:00) "Unlocking Genetic Secrets: The Intersection of Lifestyle, Epigenetics, and Longevity"(11:26) "Understanding DNA Damage: The Impact of Stress and Inflammation"(15:55) "Strategies for Reducing Inflammation and Enhancing Longevity"(18:12) "Healthy Aging and the Impact of Lifestyle Choices"(20:35) "Understanding Mitochondria: The Powerhouse of Cells"(22:05) "Exploring Mitochondrial Genetics and Longevity"(25:14) "Ethical Concerns in Gene Editing and Human Genome Manipulation"(28:04) "Exploring the Potential of Stem Cell Therapy"(31:14) "Advancements in Gene Editing and Stem Cell Therapy"(33:56) "Genomics in Clinical Practice: The Role of Genetic Counseling"(36:37) "Understanding Genetic Testing and Counseling"(39:31) "Understanding Genetics: The Importance of Genetic Testing and Research"(41:08) "Understanding Telomeres and Aging"(43:35) "Exploring AI's Role in Addressing PTSD"(45:17) "Revolutionizing PTSD Diagnosis Through Genetic Profiling"(47:09) "Advancing Healthcare: The Future of Genetic Testing and Innovation"(48:58) "Advancements in Genetic Testing and Precision Medicine"(51:13) "Developing a Genetic Test for PTSD and Neurological Health"(53:10) "Contributing to the PTSD Study"(53:51) "Advancing Medicine: The Importance of Community and Participation in Health Research"(55:44) "Building Community for a Healthier Life"(56:25) "Embracing Community and Mindfulness for Stress Relief" --- Support this podcast: https://podcasters.spotify.com/pod/show/mentalkingmindfulness/support
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.
i3 Health is pleased to invite you to Pathways to Precision: Integrating Genetic Counseling and Testing Into Cancer Care, a free, live webinar held on November 7 at 10:00 am Eastern and November 19 at 11:30 am Eastern. This interview features an exclusive preview from the two webinar co-chairs, Dr. Filipa Lynce, Director of the Inflammatory Breast Center at Dana-Farber Cancer Center and Assistant Professor of Medicine at Harvard Medical School, and Catherine Skefos, Certified Genetic Counselor in the Clinical Cancer Genetics Program at the University of Texas MD Anderson Cancer Center. Click below to register for this insightful webinar and enhance your understanding of genetic testing and counseling in cancer care! Register for the webinar: https://i3health.com/course-information/pathways-to-precision-integrating-genetic-counseling-and-testing-into-cancer-care
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.
In this eye-opening conversation, we dive deep into the world of genetic counseling and its critical importance within the Black community. Our guest covers all the key topics you need to know, from understanding family health history to how genetics can empower our future. Whether you're curious about inherited conditions, genetic testing, or personalized healthcare, this episode tackles the most pressing questions surrounding genetics and its impact on Black lives and health equity. Don't miss this essential guide to understanding the power of knowing your DNA!
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.
In this episode, Shannon Whieloch, a genetic counselor and the founder of Stork Genetics, discusses the vital role of genetic counseling in fertility, preconception, and prenatal care. She debunks common misconceptions and highlights the importance of informed decision making. Shannon tailors her genetic counseling services to meet the unique needs and concerns of each individual couple, providing personalized guidance and support. She also emphasizes the significance of genetics in overall health and the various testing options available. Shannon shares her own journey into genetic counseling and her commitment to making genetics accessible and approachable. In this conversation, Shannon Wieloch, a genetic counselor, discusses the significance of carrier screening and non-invasive prenatal testing (NIPT) in genetic counseling. She explains that carrier screening can be done at home with a saliva sample or cheek swab and helps identify the risk of passing on genetic conditions. NIPT, on the other hand, is a blood test that can detect chromosomal abnormalities in the fetus. Shannon emphasizes the importance of informed decision-making and the role of genetic counselors in providing support and guidance throughout the genetic health journey. She also discusses the emotional impact of genetic testing and counseling and shares impactful moments from her experience.Instagram: storkgeneticsstorkgenetics.comFacebook: Stork GeneticsTik Tok: Stork Genetics
To celebrate DNA Day we are releasing our April episode exploring concepts related to the diagnostic odyssey, whole genome sequencing, and results returned. Segment 1: A Journey of Hope and Resilience In our first segment, we delve into the research conducted by Celine Lewis, focusing on the emotional impact of receiving a "no primary finding" (NPF) result from genome sequencing. This recent JoGC paper is titled, “The disequilibrium of hope: A grounded theory analysis of parents' experiences of receiving a “no primary finding” result from genome sequencing.” Celine's study uncovers the multifaceted journey of parents grappling with the absence of a definitive diagnosis for their children. Through grounded theory analysis, two primary themes emerge: "Striving to Solve the Unsolved Puzzle" and "Navigating Hope, Lost then Found." These themes encapsulate the oscillating emotions of hope, disappointment, and resilience experienced by parents amidst the diagnostic odyssey. Dr. Celine Lewis is a behavioural scientist working in the field of genetic and genomic medicine. She is currently at University College London Institute of Child Health, and is an NIHR Advanced Fellow. Her work focuses on how patients and families relate to, communicate and make decisions around personal genetic information, and the subsequent behavioural, psychological and social outcomes. Through her research, Celine has worked with a range of key stakeholders including researchers in the UK and abroad, healthcare professionals and policy makers as well as voluntary organisations, patients and families. She is regularly invited to present at UK and international conferences and meetings and is increasingly asked to present her research findings to organisations such as NHS England and the Department of Health. Key Insights from Segment 1: - The importance of understanding the emotional dimensions of genetic testing, especially for families receiving inconclusive results. - The dynamic role of hope as both a motivator and a coping mechanism throughout the diagnostic journey. - Suggestions for pre and post-test counseling strategies to support families navigating genomic testing, emphasizing the significance of managing expectations and fostering adaptive hope. Segment 2: Systematic Review of Secondary Findings In our second segment, we explore a systematic review conducted by Lucas Mitchell and Dr. Amanda Willis, focusing on the uptake and outcomes of returning secondary findings to research participants. This recent JoGC article is titled, “Systematic review of the uptake and outcomes from returning secondary findings to adult participants in research genomic testing.” Through rigorous analysis of existing literature, Lucas and Amanda illuminate key insights into the prevalence of secondary findings and their psychological, medical, and ethical implications. Their review underscores the critical role of researchers in navigating the complexities of result return, highlighting considerations for enhancing participant engagement and support. Lucas Mitchell is a research genetic counsellor at the Garvan Institute of Medical Research in Sydney, Australia. He contributes to the My Research Results genetic counselling platform, an evidence-based service that supports researchers in delivering actionable research genomic findings to participants nationwide. With a Master of Genetic Counselling from the University of Technology Sydney, Lucas is passionate about helping participants and their families in understanding their research findings and facilitating access to ongoing support. Lucas's current research interests lie within the application of genomics and returning secondary findings, and the intersection of genetic healthcare with diverse communities and improving inclusion and accessibility. Dr. Amanda Willis is a research genetic counsellor at the Garvan Institute of Medical Research. After completing a Master of Genetic Counselling in 2013, Amanda worked as a cancer genetic counsellor in Australia and the UK and completed a PhD in 2018. Amanda's current work is centred around the My Research Results program, developed to help research participants access their genetic information. Amanda provides genetic counselling to research participants who receive a genetic result and conducts research to understand the experiences of these participants. Through this work, she aims to increase access to genomic information and improve outcomes for research participants and their families. Key Insights from Segment 2: - The significance of secondary findings in research genomic testing and the need for comprehensive strategies to address participant needs. - Key findings regarding the uptake of secondary findings and diverse outcomes experienced by research participants. - Implications for researchers, healthcare providers, and policymakers in optimizing result return processes and promoting participant well-being. As we conclude our exploration, it becomes evident that genetic testing transcends the realm of science, delving deep into the intricacies of human emotions and resilience. Through the insightful research of our guests, we gain valuable insights into the lived experiences of individuals navigating genetic testing, offering a glimpse into the profound impact of hope, disappointment, and adaptive coping mechanisms. 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. Nominate your articles, or a colleagues, here and we may feature it on the show! 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.
It's our mission to make dementia caregiving easier for families caring for a loved one with Alzheimer's disease, frontotemporal dementia, lewy body dementia, vascular dementia, or any other type of dementia. We believe that in order to create a more dementia friendly world, we must first create a caregiver friendly world. That's why we create free educational training videos like this one so that anyone with an internet connection can get access to dementia care information. Discover the crucial factors to consider before opting for Alzheimer's genetic testing or any genetic testing in this informative video. We explore the risks associated with the test, highlight the significance of seeking advice from medical professionals, and examine how the results can affect your daily life and mental health. Key Takeaways: -Understand the pros and cons of Alzheimer's blood tests. -Consider the impact on your lifestyle, finances, insurance, and mental health. -Consult with healthcare professionals before making decisions. #AlzheimersTest #DementiaPrevention #Caregiving #MentalHealth #AlzheimersDisease #Healthcare #GeneticTesting #Careblazers If you'd like to see this episode on video, you can hop on over to my YouTube channel at https://www.youtube.com/dementiacareblazers You can also sign up for a free training class and learn more about the Care Course at https://www.dementiacareclass.com/website We have lot's of free resources and trainings. -Sign up for our free Dementia Dose Newsletter: https://careblazers.com/dementiadose -Read our latest blog post: https://careblazers.com/blog/ -Follow us on Instagram: https://www.instagram.com/dementia_careblazers/ -Like us on Facebook: https://www.facebook.com/DementiaCareblazers/ **This channel and any information by Dementia Careblazers is not a substitute for healthcare. This is not healthcare advice. Please talk to your healthcare providers for specific feedback on your situation.
As we've learned on previous episodes of Raise the Line, people dealing with rare diseases usually wait 4-7 years before receiving a diagnosis, during which time their condition can deteriorate significantly. Shortening this “diagnostic odyssey” is the mission of today's guest, Lukas Lange, and in an interesting twist, he's doing it by involving the patients themselves. The company he co-founded, Probably Genetic, has developed a system that starts with rare disease patients, or the parents of children with rare conditions, describing the symptoms involved on a website. “We run algorithms on that data in real time as you're on the website and if the algorithms think that this person might have a specific genetic disease, then we have a whole telemedicine system built in the background where we process that information and you get your test kit within about 48 hours of being on the website,” he explains to host Hillary Acer. Once the at-home test results are processed, a genetic counseling session is conducted via telemedicine. Tune in to find out why Lange believes having this knowledge is powerful for patients even if there may be no treatment available yet for their condition, and how it may be useful down the road with clinical trial recruitment, real world evidence tracking, and even early stage R&D for treatments.Mentioned in this episode: https://www.probablygenetic.com/
Genetic tests are changing healthcare and doctors aren't the only experts who should read your results. We show you the science behind genetic counselors how their niche expertise can help prevent misdiagnosis.
ONCE UPON A GENE - EPISODE 219 Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini Amanda Pichini is a genetic counselor from Genomics England, here to share their initiatives and mission. EPISODE HIGHLIGHTS What is your role at Genomics England and how did your career develop? I work at Genomics England as the Director of Clinical Implementation and I'm responsible for the strategic clinical leadership for our products and services, ensuring research, diagnostics and clinical programs we support are in line with the latest healthcare standards and research. Prior to joining Genomics England, I worked as a genetic counselor, a profession I was interested in for a long time. When I started studying biology, I was keen to do something that allowed me to communicate and speak to people, but still be immersed in science. While my role isn't patient-facing now, I bring my genetic counselor skills to understand the complexities of genetics in healthcare and how we communicate to various audiences to design and deliver our programs. What are the current initiatives at Genomics England? Since the 100,000 Genomes Project, we are focused on working with the NHS to provide genome sequencing as a standard clinical test. We've worked hard to ensure healthcare professionals understand how to help families through the process, manage their expectations and potential results of genome sequencing. We're also focused on looking at different types of sequencing technology we can use to enhance the testing and care for cancer patients, and also a newborn genomes program which is part of a large-scale national research study called the Generation Study. This study will sequence the genomes of 100,000 newborn babies with a goal of understanding if sequencing in the newborn period can help identify rare conditions earlier in life, with the ideal goal of improving the quality of life and outcomes for the babies identified as having a rare condition. Can you talk more about the newborn screening? Like in the US, we do a heel prick when a baby is about 5 days old at the parent's discretion. We recommend it as public health and to look for rare conditions that could be treated if found early. We currently test for 9 conditions, but the Generation Study is an optional screening in addition to standard newborn screening. It will be available to parents at different hospital sites, a baby doesn't already need to be ill and parents don't have to have a known history to participate. At birth, a small amount of cord blood will be taken and that sample used to carry out genome sequencing and to look for around 200 rare conditions that we feel would have an early intervention option if found through screening. We will follow up on every test, with much closer monitoring and follow-up where a condition may be positive. LINKS AND RESOURCES MENTIONED Genomics England https://www.genomicsengland.co.uk/ Genetic Alliance UK https://geneticalliance.org.uk/ Genetic Alliance US https://geneticalliance.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
Gina Davis is the founder of Advocate Genetics and a co-founder of EM•POWER donation, an education company dedicated to empowering choice in embryo donation. I'm so honored to have her joining me today on The Egg Whisperer Show podcast! Gina is passionate about impacting the growing field of genetic counseling, and has worked tirelessly to train new genetic counselors, and provide a strong foundation for fertility patients. A former fertility patient herself, she understands the challenges patients face as they try to make sense of the rapid advancements in genetics and fertility medicine, and works hard to help doctors and patients make educated decisions about their options. In this discussion, we'll be talking about genetic counseling, how it impacts the fertility world, reasons to seek genetic counseling, and what to consider about genetic testing results. Read the full show notes on Dr. Aimee's site. Would you like to learn more about IVF?Click here to join Dr. Aimee for The IVF Class. The next live class call is on Monday, February 12, 2024 at 4pm PST, where Dr. Aimee will explain IVF and there will be time to ask me your questions live on Zoom. Sign up at EggWhispererSchool.com Follow on Apple Podcasts Follow on Spotify Subscribe to my YouTube channel for more fertility tips! Join Egg Whisperer School 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.