Podcasts about genome medical

The Data Product Management In Action podcast, brought to you by Soda and executive producer Scott Hirleman, is a platform for data product management practitioners to share insights and experiences. In Season 01, Episode 07, host Michael Toland (Product Management Coach and Consultant with Pathfinder Product) engages in a deep discussion with Andrew Warner (Senior Product Manager at Genome Medical) about the intriciacies of monetizing and marketing healthcare data products. They cover the full gamut from product development, market research, and product validation, to privacy and ethical considerations, as well as financing and funding models. Both Andrew and Michael share their experiences, insights on common pitfalls, and valuable lessons learned.  About our host Michael Toland: Michael is a Product Management Coach and Consultant with Pathfinder Product, a Test Double Operation. Since 2016, Michael has worked on large-scale system modernizations and migration initiatives at Verizon. Outside his professional career, Michael serves as the Treasurer for the New Leaders Council, mentors with Venture for America, sings with the Columbus Symphony, and writes satire for his blog Dignified Product. He is excited to discuss data product management with the podcast audience. Connect with Michael on LinkedIn. About our guest Andrew Warner: Andrew is a Senior Product Manager with eight years of experience in healthcare platforms, data, and integration. He has worked on a diverse range of projects, from mobile apps that reach millions of users to internal data systems that drive business growth. Andrew is passionate about challenging the status quo and fostering business innovation by introducing products that resonate with consumers. Connect with Andrew on LinkedIn.   All views and opinions expressed are those of the individuals and do not necessarily reflect their employers or anyone else. Join the conversation on LinkedIn. Apply to be a guest or nominate someone that you know.

In episode 16, we dive into the transformative power of Artificial Intelligence (AI) in healthcare. We welcome back Columbus's own Andi Hila, VP of Product at Genome Medical, to discuss the current state of AI adoption, its impact on diagnostics, drug discovery, and patient care. We explore the challenges, like data privacy and regulations, and delve into how AI can empower patients through telehealth and personalized care models. We'll also discuss the ethical considerations of using patient data and the future of AI in healthcare.   This episode is packed with insights on: The most promising areas for AI in healthcare (e.g., diagnostics, drug discovery, administrative tasks)  How AI enhances remote patient care and telehealth experiences Real-world benefits for patients and providers (e.g., 24/7 access to virtual care, improved efficiency) The ethical considerations of using patient data for AI development The potential long-term impacts of AI on healthcare delivery (e.g., cost reduction, improved access)    Join us for a fascinating conversation about AI's potential to transform healthcare!    Available on all major podcast streaming platforms.   If you're looking to save money and time, while maximizing revenue opportunity in the central Ohio area, check out steinertanalytics.com

Diagnostics in Life Sciences is the Key to Healthcare w/ Mara Aspinall of Illumina Ventures  AZ TRT S05 EP12 (227) 3-24-2024    What We Learned This Week Diagnostics is the key to healthcare, identifying medical issues and designing the right treatment for the patient Five Levels of Diagnostics – Screening, Diagnosis, Prognosis, Interacting, & Monitoring Illumina Ventures is a life sciences venture capital firm with 35 companies in their portfolio Their investment companies deal in genomics, cancer testing, telehealth, at home testing & more Future of Biotech will be impacted by both AI and Nanotech     Guest: Mara G. Aspinall, Partner, Illumina Ventures  https://www.illuminaventures.com/ President and CEO, Health Catalysts Group Board Member of AZ Bio - https://www.azbio.org/   Mara Aspinall is a healthcare industry leader and pioneer with a commitment to civic involvement.     She is a Partner at Illumina Ventures, an independent, global healthcare venture capital firm focused on genomics and precision health investing including diagnostics and therapeutic products. Aspinall has deep roots in venture investing, having co-founded BlueStone Venture Partners in 2017. BlueStone has a strong portfolio of diagnostic, medical device, and digital health companies in the U.S. Southwest. Throughout her career, Aspinall has spearheaded initiatives to educate payers and policymakers on genomics and personalized medicine. She publishes the popular Sensitive and Specific: The Testing Newsletter and the annual Diagnostics Year in Review. This commitment to expanding knowledge inspired Aspinall to create and co-found the Biomedical Diagnostics master's degree program at Arizona State University, the only program dedicated exclusively to diagnostics, genetics, and genomics. Previously, Aspinall was President and CEO of Ventana Medical Systems, a billion-dollar division of TheRoche Group, (now Roche Tissue Diagnostics), a worldwide leader in the development and commercialization of tissue-based cancer diagnostics, where she led more than two dozen major instrument and assay launches and helped position the company as a global leader in companion diagnostics. Aspinall spent 13 years at Genzyme Corporation, where she served as President of Genzyme Genetics and Genzyme Pharmaceuticals. Aspinall transformed the business from a small, specialized player to one of the top five laboratories in the U.S. while setting the industry standard for quality testing. The business was sold to LabCorp for $1 billion in 2010. Aspinall also served as Founder and CEO of On-Q-ity, a start-up diagnostic company dedicated to circulating tumor cells. During the pandemic, Aspinall emerged as a national authority on COVID testing, serving as the principal investigator at Arizona State University on grants from The Rockefeller Foundation, creating TestingCommons.com and EvidenceCommons.com – internationally recognized interactive databases on COVID diagnostics and related research and clinical applications. Aspinall was named Arizona Biosciences Leader of the Year by the Arizona Bioindustry Association and one of “100 Most Inspiring People in Life Sciences” by PharmaVOICE magazine. Aspinall has extensive board experience. She has served on multiple public and private company boards in leadership roles over the last ten years. She is currently Chair of the Board of OraSure (OSUR) and Chair of the Nominating & Governance Committee of Castle Biosciences (CSTL). She also serves on the board of BlueCross BlueShield of Arizona. She holds an MBA from Harvard Business School, a BA in International Relations from Tufts University, and is certified in Cybersecurity Oversight from Carnegie Mellon/NACD.     Notes:   Seg 1 All of life sciences and biotech is healthcare. Diagnostics is the central organizing portion in healthcare, and consists of testing if needed. There are five (5) levels to diagnostics. Level One is Screening – where a patient may or may not be sick, check the health status, and also could be regular check ups for something pre-diagnosed.  Level Two is the Diagnosis - where tests are taken and then you see the results of the test. Level Three is the Prognosis – what symptoms does the patient have, and where you  need to go from here, what will happen with these symptoms. Level Four is a newer part called Interacting - This is where you can do personalized medicine and what's called theranostics or drug treatment. You combine drugs with the treatment. You have to analyze what type of drug is needed. What someone's body is like, how they metabolize drugs. What dose central levels are needed. People's reactions to drugs is not just body size or weight as suggested previously, but could be very much based on the genes. Level Five also new is called Monitoring - If disease treatment is over how do you monitor over the long term. What test do you take to confirm that there's been no return of the disease. Examples would be an MRD test which stands for a minimal residue disease.  You also may be doing things like CT scans or x-ray scans in the past, but sometimes these do not detect disease properly. Some cancers could be very small and you need a blood test. People may check in through cycles of a disease treatment also.   Seg 2 Regarding monitoring and Level Five using cancer as an example. People may go through 6 rounds of chemotherapy treatment. The doctor should monitor by round 3 and check is the tumor reduced or how is the chemo working.  Do you want to have benchmarks to see if you're reaching the health goals and if the medicine is effective. Future treatment might be biopsy of a tumor and testing glass to see what drug may work on it.  Revisiting Level Four in personalized medicine you may see in the future Chino metric analysis. Check the risk level for certain diseases so you can have a preemptive process to prevent potential predisposed diseases. This is level A. Level B would be when diagnosed with a disease, you check the tumor, mutations and genes checking both the DNA and RNA. Mara is on the board of AZ Bio (.org). The goal of AZ Bio is bringing educated people about biotech together to affect the state, the universities, and companies. Move research along with the responsibility to patients in the medical field. Mara is involved in venture capital which is critical, because it funds entrepreneurs in good companies to research and create Biotech product processes and products. There are other levels of investment, which typically start with friends and angel investing then move on to venture capital, and then private equity for really big rounds.  She was the founder of Blue Stone and they invested in Southwest companies.  In the fall of 2023 she became a partner at Illumina Ventures. They deal with 35 different companies. They've invested in all levels, biotech and genomics. You're looking for a VC to be specialized and knowledgeable about an industry so they can help the business grow provide it with money and add expertise.   Seg 3 Mara and Illumina Ventures recently put out a report - Diagnostics Year in Review. This report covers how did the industry is doing, what stocks earn money, what IPOs there were, financials, clinical, innovation, and mergers and acquisitions.   How does venture-capital work? Typically you have individual funds one through five. You raise money from investors and invest in new emerging companies. Companies may be doing research, drug development, or working other areas of life sciences.   Examples of companies in their portfolio: Delphi deals in cancer, diagnosis test and early screening for cancer and detection test. Level one screen checking for lung cancer and what early symptoms there are. Biopsy can be dangerous so you need other tests. Let's Get Checked - a telehealth online company that brings testing to the patient either at home or in an urgent care or ER. This is faster and easier. Examples of test are Covid test and STD test. Serimmune human immunity research company Genome Medical a genetic counseling company, working with patients to discuss what diseases they may be predisposed to, and ways to not pass it to the   Seg 4 Future of Biotech We saw with the pandemic, the rise of telemedicine with faster online diagnosis. We will also see in the future that AI changes drug development and reading tests The creation of better and faster equipment. The rise of nanotech, and early detection of diseases with blood samples - for example, at home blood draw.     Check out the Best of Biotech Show: Best of Biotech from AZ Bio & Life Sciences to Jellatech - BRT S04 EP26 (189) 7-2-2023   What We Learned This Week: AZ Bio mission to improve life sciences, & make AZ a Top 10 Bioscience state Aqualung Therapeutics is treating inflammation in the lungs, get people off ventilators & save lives Calviri is working on a Vaccine to PREVENT Cancer, currently largest animal clinical trial Anuncia Medical has a Re-Flow product to help drain fluid from the brain, treats Hydrocephalus Collagen 2.0 – Innovation to Gelatin & gummies   Full Show: HERE     AZ Tech Council Shows:  https://brt-show.libsyn.com/size/5/?search=az+tech+council *Includes Best of AZ Tech Council show from 2/12/2023   Tech Topic: https://brt-show.libsyn.com/category/Tech-Startup-VC-Cybersecurity-Energy-Science  Best of Tech: https://brt-show.libsyn.com/size/5/?search=best+of+tech     ‘Best Of' Topic: https://brt-show.libsyn.com/category/Best+of+BRT      Thanks for Listening. Please Subscribe to the BRT Podcast.     AZ Tech Roundtable 2.0 with Matt Battaglia The show where Entrepreneurs, Top Executives, Founders, and Investors come to share insights about the future of business.  AZ TRT 2.0 looks at the new trends in business, & how classic industries are evolving.  Common Topics Discussed: Startups, Founders, Funds & Venture Capital, Business, Entrepreneurship, Biotech, Blockchain / Crypto, Executive Comp, Investing, Stocks, Real Estate + Alternative Investments, and more…    AZ TRT Podcast Home Page: http://aztrtshow.com/ ‘Best Of' AZ TRT Podcast: Click Here Podcast on Google: Click Here Podcast on Spotify: Click Here                    More Info: https://www.economicknight.com/azpodcast/ KFNX Info: https://1100kfnx.com/weekend-featured-shows/     Disclaimer: The views and opinions expressed in this program are those of the Hosts, Guests and Speakers, and do not necessarily reflect the views or positions of any entities they represent (or affiliates, members, managers, employees or partners), or any Station, Podcast Platform, Website or Social Media that this show may air on. All information provided is for educational and entertainment purposes. Nothing said on this program should be considered advice or recommendations in: business, legal, real estate, crypto, tax accounting, investment, etc. Always seek the advice of a professional in all business ventures, including but not limited to: investments, tax, loans, legal, accounting, real estate, crypto, contracts, sales, marketing, other business arrangements, etc.  

JCO PO authors Dr. Edward Esplin and Professor Heather Hampel share insights into their JCO PO commentary, “Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer” and discuss practical implications of testing for patients, geneticists, and clinicians. Host Dr. Rafeh Naqash, Dr. Esplin, and Professor Hampel discuss standard of care guidelines, insurance coverage, and benefits of testing. Click here to read the article! TRANSCRIPT Dr. Abdul Rafeh Naqash: Welcome to ASCO's JCO Precision Oncology Conversations, where we bring you the highlights and overview of Precision Oncology. Episodes will feature engaging conversations with authors of clinically relevant and highly significant JCO PO articles. These articles can be accessed at ascopubs.org/journal/po. Hello and welcome. My name is Dr. Abdul Rafeh Naqash. I'm a medical oncologist and assistant professor at the OU Health Stephenson Cancer Center. I'm also the social media editor for JCO Precision Oncology, and you're listening to JCO Precision Oncology Conversations podcast.  Today I am thrilled to be talking with Dr. Edward Esplin and Professor Heather Hampel about their recent paper, ‘Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients with Solid Tumor Cancers'. Heather Hampel is the associate director in the Division of Clinical Cancer Genomics and is a professor in the Department of Medical Oncology and Therapeutics Research at the City of Hope National Medical Center. Dr. Edward Esplin is a clinical geneticist and also the Head of Clinical Trials at Invitae in San Francisco, California.  For the purpose of this podcast, we'll be referring to each other using our first names. So welcome both Heather and Ed. Thank you for joining us today.  Dr. Edward Esplin: Thank you, Rafeh.  Professor Heather Hampel: Thanks for having us.  Dr. Abdul Rafeh Naqash: Well, first of all, I'd like to start by discussing some of the context behind this very interesting commentary. For the sake of our listeners, this is one of our first commentaries that we're doing a podcast on because this is very clinically relevant, especially for patients with cancer and without cancer, as I was reading through this commentary. So could you tell us, Ed, what prompted you to start this commentary, and what was the context of and the importance behind why something like this would make a difference in the clinical care of patients with cancer?  Dr. Edward Esplin: Yes, I'd be glad to. I think that we have seen over the past couple of years an ever-growing application and opportunity for application of precision therapies in patients with cancer of various kinds. And there has been with that a growing amount of evidence connecting germline genetic variants of a pathogenic nature with various types of cancer, breast cancer being one of the ones that is the most prominent. And as we've seen this evidence accrue in cancer types such as breast, which has probably got the longest history of a connection to germline genetics, but also accruing in other cancer types such as pancreatic cancer, prostate cancer, ovarian cancer, colorectal cancer, it became clearer and clearer that there is evidence to support a broader application of germline genetic testing than is currently the standard of practice. In part driven by the desire for access to these precision therapies that are driven in part by patients' germline genetic makeup and for the opportunity that germline genetic testing results have for affording patients potential access to clinical treatment trials - so the cutting edge of what is driving some of these treatment opportunities - and reviewing the amazing amount of work that has been done by a number of people across the country and across the world to support these opportunities and support this becoming more and more the standard of care really motivated us to do this project together, and we've been fortunate to have been involved in a number of the studies that we review in this commentary.  Dr. Abdul Rafeh Naqash: Thank you so much for that explanation, Ed. So, Heather, you, and both Ed, have obviously led and been part of a lot of work in this space and have developed guidelines in this space. For the sake of our listeners, whether they are clinicians or patient advocates, what are the current guidelines behind germline testing for patients with cancer and patients without cancer?  Professor Heather Hampel: That's a really good question, and that's a lot of what's driving it for me, just from a clinical perspective.  So currently, we mainly use the NCCN guidelines in the US for deciding when a patient is appropriate for germline genetic testing. And they only recommend or suggest considering germline genetic testing for all cases of three particular cancers: all cases of ovarian, pancreatic, and, most recently, this summer, all cases of colorectal cancer, they've said you could consider offering germline testing to. The other one that has a recommendation is prostate cancer, but that's restricted to patients with metastatic or advanced prostate cancer, so it's not all prostate cancers. When you look at the guidelines, you ask yourself, how did they decide that? Was it based on the prevalence of finding a germline mutation? Because if it was, there are several other cancers where germline mutations are just as prevalent, but that recommendation has not been made.  And what is happening really on the front lines is that some patients are not having access to genetic testing because we have very complex criteria requiring ages of diagnosis, certain tumor markers, particular family history constellations that make the criteria difficult to use for frontline primary care physicians and patients deciding who needs referred, and do I need to see cancer genetics? And how much more straightforward would it be if we just said everybody with cancer needs gene testing? At this point, we pulled the data together for this commentary. We feel like the odds of testing positive are high enough in every single solid tumor to support a change in the recommendations like that.  Dr. Abdul Rafeh Naqash: Thank you. And from the data that you highlight in this commentary, apart from the tumors that you mentioned, Heather, that have recommendations for germline testing, what other tumors would you try to incorporate this in subsequently as a first, second, third approach, maybe if you can't get to all tumors at the same time?  Dr. Edward Esplin: I would say that one of the ones that we would highlight, I think, also, is breast cancer, right? That's one that there's a clear link. And as Heather appropriately noted, while a universal guideline per se has not been established by the NCCN for breast cancer, about three years ago now, based on a publication in Journal of Clinical Oncology, there was the observation that the guidelines that existed at that time did not find a significantly increased number of pathogenic germline findings in patients who met the criteria as they existed at that time compared to those patients who did not meet the criteria. And based in part upon that data, the American Society of Breast Surgeons came out with guidelines that recommended, indeed, the time is now for universal germline genetic testing for all patients who have been diagnosed with breast cancer. So I think that one's another one that there's a great deal of opportunity for that to be implemented, consistent with what Heather has already noted.  And I think there is also data that's been presented at ASCO here very recently, suggesting that similar evidence supports testing not just for metastatic prostate cancer but possibly for a broader collection of prostate cancer patients as well, perhaps all of them with a similar finding where in a prospective observational cohort of unselected patients with prostate cancer. Again, when you applied the current guidelines for testing, there was no statistically significant difference in the number of actionable pathogenic germline findings in patients who met the current criteria compared to those who do not. Which unfortunately suggests that all those patients who are being excluded when we adhere to these guidelines are not able to access the genetic information that could be crucial to their treatment. And it's just because they're not being considered, even though there is a significant fraction of those individuals who do have germline genetic information that could impact their care and possibly the preventive care of their at-risk family members as well.  Professor Heather Hampel: And, Ed, let me add a study I did with you and your team on endometrial cancer. So the truth is, Rafeh, we don't want to pick. We want all solid tumor patients to get germline genetic testing through a multigene panel. But I think if we did have to pick, I would also add endometrial. We did a study of nearly 1000 unselected endometrial cancer patients in the state of Ohio and found just over 10% had a pathogenic variant in a cancer susceptibility gene. And you really could not predict, based on personal or family history factors, who was going to test positive.  Dr. Abdul Rafeh Naqash: And that was definitely something interesting that I caught in this commentary as I was going through it. One of the sentences that was definitely interesting for me was where you mentioned that these guidelines should include risk factors beyond family history and just testing for genes beyond BRCA1 and BRCA2, which are commonly identified entities associated with germline testing, that prompt germline testing.  But one of the other things is the financial aspect of it, which you have highlighted in your commentary. So, I wanted to briefly touch on that and understand what are the policies. It seems like different coverage policies cover different aspects of germline testing, so that's number one. Could you comment on that? And number two, a few years back, there has been an effort you might have heard of related to TMB or Tumor Mutational Burden Harmonization. Could there be some sort of harmonization to identify what are the most important testing genes that are or should be covered by some of these insurance policies? And could you highlight some of the aspects around that?  Dr. Edward Esplin: That's an excellent point. And what we have found has been the course this usually proceeds through is when the guidelines have established what the criteria should be for testing, then, over a certain period of time, naturally, the various insurance payers will then incorporate this into their medical policies. And, for better or for worse, this takes time. I think, in the opinion of most, the time that it takes is unfortunately prolonged for reasons that I don't personally understand.  But noting a bright spot, I'll highlight that UnitedHealthcare has actually taken the step of instituting a very patient-first medical policy. They did this back in 2020, where they recommend and consider medically necessary standard of care germline genetic testing for any patient who has a diagnosis of any cancer that is associated with Lynch syndrome. So meaning that any patient covered by their policy who has a personal diagnosis of colon cancer, endometrial  cancer, the long list of cancers associated with Lynch syndrome, qualifies for germline genetic testing. And that's covered as part of the standard of care, which is a great move in the right direction for this, the largest private commercial insurance provider in the United States.  Now, do we need to see more of that? We absolutely do, because, as Heather's already noted, there is an access issue, and there is a disparity issue for those individuals that don't meet the criteria of their own insurance policies, medical policy, they don't have access. And that requires them, if they choose, to get germline genetic testing, to pay an out-of-pocket cost of $250 or more, depending. And that may be something that is simply not accessible to individuals. And so there's a tremendous amount of effort that needs to be done to incorporate the guidelines as they currently exist into medical policy.  And I think, to your point as well, the discrepancies between various medical policies is certainly a challenge, and I don't have a good answer for how to address that. But it is frustrating, to say the least, that any clinician has to guess what their own particular patient that's sitting in front of them right now has in terms of medical policy coverage for germline genetic testing. And then that should in any way cause them to have to second guess ‘How am I going to get the standard of care to this patient?' One of the other challenges that that potentially raises is, as we noted in our commentary as well, unfortunately, even for those cancer types where there is an established recommendation for universal germline testing, there is nowhere near the implementation of that that there ought to be.  For ovarian cancer, I think it's in the neighborhood of 30% of patients with ovarian cancer are getting this testing. For breast cancer, I think it's 25%. I can't remember if this was cited in this paper or not, but in a recent publication that we did with collaborators from Optum Health, we found that 5% or less of colorectal cancer patients who fell under this very progressive UnitedHealthcare policy were getting testing where everyone qualified for it under the medical policy. And so it really raises concerns about these missed opportunities in the setting of not effectively implementing germline genetic testing even when it is already recommended as the standard of care for the guidelines as they currently exist and not to be available to many more patients with various cancer types, as we've already noted.  Dr. Abdul Rafeh Naqash: Thanks for highlighting some of those very extremely important points. And, to your point, it's not implemented as much as it should.  Heather, have you, or others in this field, tried to understand what are those exact barriers that maybe me, as a clinician who sees at least patients with cancer, should know, or any other community-based oncology practice physician, should know that these are patients where testing is important and will have clinical implications. But what would be the barriers that potentially do not result in as much of a higher implementation of this testing than one would expect?  Professor Heather Hampel: Well, you may be surprised to hear this coming from a genetic counselor, but I've become convinced over the years that requiring pretest genetic counseling is one of the biggest barriers that actually keeps patients from getting genetic testing when it's appropriate. And not that we're trying to be, but just that we have long wait times. Patients may have a lot of appointments because of a new cancer diagnosis, and they're overwhelmed. It just adds one more thing that's a little difficult.  And so, I really am interested in flipping the paradigm, and this is what we're doing at City of Hope now, currently, which is offering a precision medicine or a mainstreaming approach, where every single patient at the institution is offered germline genetic testing regardless of age, regardless of family history, regardless of tumor type. And then, believe it or not, this actually supports hiring more genetic counselors because you're dealing then with thousands of results that need to be hand-reviewed, and all positives, of course, get invited in for full post-test genetic counseling. And that saves that resource, that scarce resource of genetic counseling for the people who need it the most, the people who tested positive, whose family members need testing, who need to implement all the management that comes with testing positive.  I find those sessions much more rewarding because I can be much more helpful for the patient and the family, and our negative patients, or patients with variants of uncertain significance, get templated letters. We've got a team of genetic counseling assistants that are helping get those out because, of course, that's the majority of patients. But if they have questions or concerns or a strong family history, they can, of course, come in for post-test genetic counseling, too. But I think we're on the cusp of switching the paradigm of how cancer genetics is delivered, and that's really the only way to get it at scale to the large number of patients who actually need it.  Dr. Abdul Rafeh Naqash: Thank you. And, to that point, I wanted to say that, as cancer care becomes more and more multidisciplinary, it's right there in front of us that, I think, genetic counselors or clinical geneticists need to be part of these multidisciplinary teams, whether it's through molecular tumor boards or outside of molecular tumor boards. But I think that's where the gap is, at least from what I see on my end. And that's where communication gaps create issues. I recently had at least two patients in their 30s and 40s, one with a PALB2 and another with the CHEK2 alteration and initially identified on liquid biopsy, actually, and that prompted me to check for germline testing. And lo and behold, both were positive. And that resulted, as Ed, you mentioned, cascade testing and eligibility for trials, both ended up on different DNA damage-based trials. So, definitely a lot of clinical implications.  In your practice, when you were on the academic side, Ed, did you have instances where you definitely could see a lot of difference with respect to clinical management of a patient when such an event was identified when a pathogenic germline alteration was identified? And could you give us a few examples so that listeners maybe could try to understand better how some of these things can have significant clinical implications?  Dr. Edward Esplin: Well, I practiced when I was at Stanford in perhaps a little bit of a skewed environment, skewed to the better, where much of my interaction with patients with cancer and with molecular tumor board as well was in the setting of the Stanford Cancer Genetics Clinic. And so that's certainly highly enriched for well-informed individuals, very genetic-savvy medical oncologists. Obviously, the genetic counselors were the foundation there, and me, as a clinical geneticist, was actively involved in such a way that, yes, I think it made a lot of difference from the standpoint of patients with cancer, knowing what all of their options were. And in a number of cases also, the first thing, I think that at least from my standpoint, thinking about genetics a lot that many patients want to know is: why do I have this cancer? Did I do something to cause this? What's the underlying reason for this? And being able to either provide them reassurance that this was not something that was genetic, that this was not something that anyone in their family needed to be particularly concerned about, or that there was anything further that needed to be done about that. Versus the alternative, each of those answers was incredibly valuable to the patient and the patient's family for the reasons I think that you already alluded to.  If there is a genetic cause, then there are known actions that can be taken, whether it's an approved precision therapy or a clinical treatment trial. But then I think equally important, especially in those families where there was a known history of various cancers, and this is the first person who had any genetics done, then being able to share with that patient and with the patient's family that they're going through an excruciating disease course, but there is an opportunity for some of that to be mitigated, some of that risk to be mitigated in their family members; I think brought a certain amount of, I don't know if reassurance is the right word, but it was valuable and was greatly appreciated by those individuals.  One situation that I recall actually was a patient that– I can't remember what her age was, she was probably in her 40s or 50s, but she had developed a colorectal cancer. She had had appropriate germline genetic testing performed and had had a variant identified; I believe it was one of the Lynch syndrome genes, I'm not recalling exactly right now. But while she was undergoing her treatment, I mean, to her credit, she went right away to her family in particular, to, it happened to be her son who was one that got tested, and he was, I think, late teens, maybe early 20s, he had tested positive for the same thing. She made sure that he went in, he got his colonoscopy right away, and lo and behold, right, they find an advanced polyp in this 20-year-old kid that, had that not been done, that would have been identified in just a very tragic way. And yet, as a result of her taking charge and having the information that she needed to take charge for herself and for her family members, a cancer was literally prevented. And that individual's life was prolonged, if not saved, because of that action being taken on behalf of that individual who had the information they needed to do that.  Professor Heather Hampel: Yeah, I would just add I was talking to some of the docs at one of our network sites recently and talking about all of these benefits, which are 100% clear and really also hitting on the targeted therapy benefit quite a bit. And they reminded me of another benefit which we all often forget, and that is even surgical decision-making. So if we got this done early enough, there are certainly patients who have BRCA mutations who might elect to have bilateral mastectomies instead of a unilateral mastectomy or a lumpectomy and patients with Lynch syndrome who might elect to have a subtotal colectomy instead of a segmental resection. And again, this is where not only do we need to be offering this to everybody, but we need to be offering it early at the time of biopsy-proven cancer in some cases, where it could actually affect even their surgery.  Dr. Abdul Rafeh Naqash: Absolutely. And thanks, Ed, for highlighting some of those interesting and important examples.  Now, Heather, when we talk about 80%-85% of the places in the country, at least in the US, they may or may not likely have access to experts like yourself or elaborate, broad, experienced teams that you guys have been part of. So on the oncology side, in a clinic, we get a patient who gets next-generation sequencing done, a 500-600 gene panel where we may or may not have a geneticist, or the wait times are longer. What is your suggestion for individuals, both clinicians and for patients, in that setup? What are the things that one should think of to mitigate some of those delays in that setup where you may not get a geneticist to see that patient or a counselor to see that patient immediately? Looking at that sequencing panel, what couple of things would you think of should prompt a physician to refer a patient to a genetic counselor if it's on a need basis and not available for everybody?  Professor Heather Hampel: And you're talking about a tumor panel that's coming back.  Dr. Abdul Rafeh Naqash: Correct. I'm talking about NGS 600 gene panel because that's what gets done clinically every day, all day, when you're talking about patients with cancer. What are the few things that one should look out for?  Professor Heather Hampel: So there's some nice ESMO guidelines around this, and that's what we were using. Where I used to work, I would actually hand-review the tumor test that came in and kind of send an email to the docs when I said, "Hey, this may be germline. I think this patient needs a referral." Some of the labs are now calling those out themselves, which is nice. So if they're calling it out themselves, definitely pay attention to those boxes that say "Potential germline finding," and make sure you refer any patients with anything there. If you're using a lab that's not calling it out, certainly some of the rules—there's already guidelines - anyone with a BRCA1 or BRCA2 mutation found in their tumor should be referred, regardless of what kind of tumor they have. So that one's easy.  Some of the things I like to look at is what was the variant allele fraction. If it's around 50% or anything over 35%, you start thinking maybe that's germline, that's a nice red flag. Cautionary tales - every colon tumor has an APC mutation in it, so we don't want those referred to genetics. Most of them don't have familial adenomatous polyposis. So only send a patient with an APC mutation in their colon tumor if they– in the setting of polyposis. Same goes for TP53. You're going to find that in almost every tumor, and very few of them are going to have Li-Fraumeni Syndrome.  So in the ESMO guidelines, I believe in addition to having a TP53 and an APC around a VAF of over 35%, they want to see it in a young age tumor so that you have an indication that you might be dealing actually with Li-Fraumeni syndrome. The Lynch syndrome genes, I think the common genes, if you see a mutation in them, go ahead and refer. Consider the variant allele fraction and then beware of genes that are commonly mutated in all cancers because most of those won't be hereditary, and genetics can't handle seeing every single patient who has a TP53 mutation in their tumor. So we need to see an early age or some strong family history in those cases.  The other thing just to point out, because there are long waits and not everybody has a genetic counselor or geneticist on staff is COVID turned out to have a little silver lining for the genetics community, and that is cancer genetics transition very well to televideo medicine. And there are now multiple companies providing televideo medicine. And you can usually get your patient in within a day or two for a televideo genetic counseling appointment. And so, just be aware if you can't get them to an in-person clinic in a timely manner, there are many, many televideo companies now providing genetic counseling services remotely from the comfort of their own home within two days' notice, evening appointments, weekend appointments to make it convenient for the patient. I don't work for any of those companies, but I would say just that people should be aware that those options exist so that their patients don't have to have a long wait time. Dr. Edward Esplin: Just one quick thought along those lines. And in the context of the commentary that we talked about, I think there is a good rationale that if the patient that we're talking about with respect to receiving the tumor profiling NGS they're having any of those solid tumor types that we're discussing, it does make a lot of sense now to order that Germline genetic test at the same time that they're getting that tumor test. And doing that via what I've heard described in the literature is a mainstream approach where the clinical oncologist can be the person who is initiating both the tumor test and that germline genetic test. Get both those things cooking at the same time, such that when you're getting those results back, and in many cases, you'll probably get the germline results back sooner, then you don't have to ask those questions. And the referral to genetics can take place at the same time as well, potentially, where those results can then be discussed in detail. And I say that in part because testing all these patients with these tumor types that we've described and taking a more universal approach can make a lot of difference, for example, in patients having the information they need to actually prevent or mitigate the risk for a second primary cancer.  We did a retrospective here a little while ago where we looked at patients who had received germline testing as a reflex to the tumor testing they'd received already. And appropriately so, I think, these savvy clinicians doing exactly what Heather described and referring them for germline testing. The unfortunate thing we found is in about 10% of the individuals that had a positive finding in their germline genetic test that was done as a downstream effect from their tumor profiling test, they had had this done on the second cancer that they had developed. And the genetic result that they received in their germline test was consistent with their first cancer that they had developed. In fact, if they had the germline testing done with the first cancer that they had developed, they would have the opportunity to have had that second cancer either downstaged by screening or completely avoided in its entirety with that information being at hand. And of course, it's practically unconscionable that a patient who has successfully defeated cancer, beat it back into remission, would need to be at unknown increased risk of a second primary tumor simply for lack of getting germline genetic testing at the time when they were first diagnosed with cancer.  Professor Heather Hampel: And not to pile on, but I'm a big fan of paired tumor and germline testing as well. And I'll just mention a Memorial Sloan Kettering paper which showed that about 10% of the mutations found on germline testing had been missed on the tumor testing because they were large rearrangements or some other type of mutation that tumor testing is really not designed to detect. So you also can't feel reassured by a normal tumor test that there isn't a germline mutation because that's not the purpose of the test, and it doesn't find every type of mutation. And so I am also a big fan of paired testing when you can get it. I also think it gives you some potential for sorting out variants of uncertain significance because you can look for second hits, et cetera. So again, I think that's the future of cancer genetics. Dr. Abdul Rafeh Naqash: Absolutely. And I learned a lot from all the stuff that you guys mentioned. And one of the things that you just mentioned that was on my mind was VUSs or Variants of Undetermined Significance. And briefly, I wanted to touch on VUSs. If I have a BRCA1, BRCA2 VUS, what should I do?  Dr. Edward Esplin: Nothing. Absolutely nothing.  Dr. Abdul Rafeh Naqash: Should I refer to genetics or just wait and watch? Dr. Edward Esplin: Well, I'll speak with my Invitae hat on. The waiting and watching, like you describe, I think, is very relevant because Invitae and other labs are actively involved in interrogating these VUSs on a routine basis. We see thousands of patients every day, and we see these VUSs popping up, and we're combing the literature on an ongoing basis. We're depositing new variants into ClinVar all the time, and that is part of what we consider to be our responsibility to continuously review the evidence underlying these VUSs.  And in fact, in a paper published, I think it was in JCO Global Oncology here pretty recently, we noted that over the course of about, I think it was a five-year retrospective of patients who had undergone breast cancer testing, that we looked at how many of those individuals had a variant of uncertain significance, for example, in BRCA 1 and BRCA 2, and over that period of time how many of them got reclassified, and if so, what was the reclassification. There was some small fraction that over that time period got reclassified. I think I'm going to say it's in the order of like 10% or 20% and I'm saying that wrong. But more importantly, of all of the ones that got reclassified over that five-year period of time, 10% or less ended up being pathogenic or likely pathogenic. The vast majority of them ended up being benign or likely benign, which just underscores there's nothing that needs to be done for VUS when the evidence might ever accrue that would help to reclassify that. The vast majority of the time, it's going to end up downgrading it. That's not even the right term to use for a VUS. It's going to reclassify it as a benign or likely benign variant. And if it is something that should be actionable at some point in time, all of the reputable labs out there will notify clinicians of that change in status, and that is the time when action ought to be taken. Professor Heather Hampel: Yeah, I think that's one of the biggest cons people will have against offering germline testing to every patient is the high variant of uncertain significance rate and a fear that those patients will be mismanaged as positives, particularly in settings where there aren't genetics professionals on staff. And so I think that's a really important point. I remember when Mary-Claire King was with her Lasker Award recommending germline genetic testing for all breast cancer, all women actually, unaffected, to try and prevent breast cancer. She had suggested that in that setting, they maybe should not report variants out at all because of the risk of them being mismanaged, and I think it's an interesting idea. Most of the academic centers like to have them; sometimes, they like to work on getting some of them reclassified. But I think it's something we need to consider if we start doing testing at this large of a scale or just being sure that everybody knows that a variant of uncertain significance should be treated like a negative until proven otherwise. Dr. Edward Esplin: I'll pile on that just briefly to note that at ASHG American Society of Human Genetics just last year there was an entire session devoted to exactly that kind of topic, and it was broadly discussed, the potential opportunity to, for example, within a cancer gene multigene panel is that a panel where returning VUS is just not a useful thing to do, restricted to pathogenic, likely pathogenic. We do that on other panels already. We do that on panels for ostensibly healthy folks and other situations. So I think that is a very worthwhile approach to consider.  And at the same time, we've also seen in the literature, Heather brings up a concern that is broadly raised and repeatedly raised, we've seen evidence that clinicians are not acting inappropriately as much as they had done, perhaps in the past, that we're getting our house in order. Breast surgeons and other physicians are treating these things like the negative results that they, in reality, are, and so that in my opinion, the potential for increased VUS identification should not be an obstacle to folks getting clinically indicated testing because that's what's needed for them to have appropriate treatment and appropriate prevention. Dr. Abdul Rafeh Naqash: Absolutely. Well, this has been very engaging and very interesting, and hopefully, our listeners will feel the same. Thank you, both Heather and Ed, for joining us today and especially choosing JCO PO as one of the destinations for your very interesting commentary.  Thank you for listening to JCO Precision Oncology Conversations. If you like today's episode, please leave a rating and review. You can find all our shows, including this one, at asco.org/podcasts and continue to stay updated by following JCO PO on Twitter with the handle @jcopo_asco. All JCO PO articles and series can be found at ascopubs.org/journal/po. The purpose of this podcast is to educate and to inform. This is not a substitute for professional medical care and is not intended for use in the diagnosis or treatment of individual conditions.   Guests on this podcast express their own opinions, experience, and conclusions. Guest statements on the podcast do not express the opinions of ASCO. The mention of any product, service, organization, activity, or therapy should not be construed as an ASCO endorsement. Guest bios Prof. Heather Hampel, MS, is an Associate Editor of JCO Precision Oncology. She is the associate director in the Division of Clinical Cancer Genomics and is a professor in the Department of Medical Oncology and Therapeutics Research at the City of Hope National Medical Center. Dr. Edward D. Esplin, MD, PhD, FACMG, CGAF, FACP is board-certified in clinical genetics and internal medicine and completed his clinical fellowship training in medical genetics at Stanford University. He now works at Invitae. Guest disclosures (See also: Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients with Solid Tumor Cancers) Heather Hampel Stock and Other Ownership Interests: Genome Medical, GI OnDemand Consulting or Advisory Role: InVitae, Genome Medical, Pomega, 23andMe, GI OnDemand, Natera   Edward D. Esplin Employment: Invitae Stock and Other Ownership Interests: Invitae Consulting or Advisory Role: Taproot Health Inc  

Happy Pride month! This episode we are continuing our celebrations! Last episode (#189) we interviewed two experts from PhenoTips, Orion Buske and Erica Peacock about building inclusive pedigrees. This episode is a fantastic follow up about how to provide gender affirming care, specifically in the genetic counseling space. As a queer member of the LGBTQIA+ community, our host Kira Dineen is excited to share this episode.DNA Today's host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 20th installment of the PhenoTips' Speaker Series, “Gender Affirming Care in Genetic Counseling”.The webinar is sponsored by PhenoTips. During these live events we interview leaders in the field of genetics and moderate questions live from the audience. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Gender Affirming Care in Genetic Counseling is a panel discussion and interactive Q & A with host and genetic counselor Kira Dineen, diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, prenatal genetic counselor at Sema4, Marney Brillinger, and transgender patient advocate, Holden Bender-Bernstein.Cultural attitudes towards the transgender community have shifted in recent years, allowing trans individuals to become more visible and empowered than previously possible. As the trans population grows in response, so too do health disparities and incidents of transphobia experienced by this historically medically marginalized group. With no agreed-upon pedigree standards for trans individuals and limited cultural competency training, genetic counselors face significant challenges providing the necessary affirming care to transgender and gender non-conforming patients.On This Episode We Discuss:• Improving clinic experiences for transgender and gender non-conforming patients• Beyond standards: gender affirming family history collection• Challenges to providing gender affirming care in existing service delivery models• Education and advocacy in the genetics and genomics communityThe PhenoTips Speaker Series is also available now as a podcast, so search “PhenoTips Speaker Series” wherever you are listening to this podcast (Apple, Spotify) to subscribe and stay updated on new episodes. Stay tuned for the next new episode of DNA Today on July 1st, 2022! New episodes are released on Fridays. In the meantime, you can binge over 190 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)In my free time during the summer I am usually with friends at our apartment's pool. My spot is right next to the water reading a book, most recently “A Crack In Creation”, which might come up in a future episode. I like keeping cool by sipping on some ice tea while I read, but I don't like all the sugar. So I've been enjoying Sound drinks instead. Sound makes unsweetened, organic sparkling waters made with tea and botanicals. No natural flavors or sugar. My fav is the blueberry with cinnamon and hibiscus tea. Try it out by ordering at DrinkSound.com using promo code DNATODAY for 20% off! Plus you are supporting the podcast. (SPONSORED)A bunch of my friends at my apartment have dogs and I love being able to offer them a treat when I take them for a walk or when they visit my place. So I got Sundays for Dogs. Now this is dog food, but can also be used as dog treats. My friend Annie's dog, Frank, gets so excited when he sees me, and if I'm being honest, I think it's more the food than me. Sundays For Dogs is real food formulated by a Vet with high quality meat, veggies, fruit and superfoods, then air-dried to perfection. Since you are a DNA Today listener, you can visit SundaysForDogs.com and use code “DNATODAY” for 35% off your first order. Support your pup and the podcast! (SPONSORED)

Proprionic and Methylmalonic Acidemia (PA and MMA), including an investigational therapy, are explored in this episode. Host Kira Dineen is joined by patient advocate Bryan Kelly, and HemoShear Therapeutics CMO, Dr. Pat Horn. Bryan Kelly is 36 years old and living with propionic acidemia. He is a great inspiration to patients and caregivers alike, finding ways to live a fulfilling life, despite the burdens of his disease. Bryan uses yoga and meditation techniques for pain relief and is active on social media, regularly reaching out to the PA community. Dr. Pat Horn is the Chief Medical Officer of HemoShear Therapeutics. His company is developing a potential new treatment for the two rare metabolic diseases we are talking about in this episode- propionic acidemia and methylmalonic acidemia. He practiced 20 years as a pediatrician and has spent the last two decades working with biotechnology companies developing new treatments for rare diseases.On This Episode We Discuss:How Proprionic and Methylmalonic Acidemia affect the bodyPA and MMA screening and diagnosis Prognosis, lifespan and quality of life for people with PA or MMAThe goal of HemoShear's investigation therapy (HST5040) that is currently in development Why studies like HERO are important to the PA and MA communityLiving with PA Mindfulness and coping with a diagnosis Why the FDA tends to fast track therapies that target orphan/rare diseasesIf you're interested in learning more about HemoShear's HST5040 therapy for PA and MMA, check out this Fact Sheet, and learn more about the HERO study at clinicaltrials.gov (NCT04732429) or mma-pahero.com. Hemoshear is also conducting the JUMP (Journey to Understand MMA and PA) Study A Natural History Study which you can learn more about here.Stay up to date with the latest developments in their trials by following HemoShear on Twitter and LinkedIn. To learn more about Bryan's journey with PA and mindful meditation, visit his website, and be sure to follow Be Present Lifestyle on Twitter, Facebook, and Instagram.Stay tuned for the next new episode of DNA Today on June 17, 2022, where we'll hear from Erica Peacock and Orion Buske about building inclusive pedigrees! Our following episode on June 24th will be a continuation of this conversation with diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, and transgender patient advocate, Holden Bender-Bernstein. Can't wait? Tune in live to the recording on Thursday, June 24th. Register for free here. New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Associate Director of Genetic Counseling at the Dana Farber Cancer Institute, Jill Stopfer, Senior Genetic Counselor at the University of Texas MD Anderson Cancer Center, Jessica Corredor, and Lead Genetic Counselor for Cancer Genetics at Genome Medical, Emily Nazar, discuss the latest technological advancements and changes to delivery models, barriers in hereditary cancer genetic counseling and methods to overcome them, strategies to prepare genetic counselors for the future, and methods to improve the accessibility of genetic counseling services in hereditary cancer genetic counseling. Hosted by DNA Today's Kira Dineen.

Lisa Alderson. Force For Good Co-Founder & CEO, Genome Medical, Inc. Taking action to address inequities in health care. Lisa Alderson is the CEO and Co-Founder of Genome Medical, Inc., a digital health company and virtual medical practice transforming the delivery of healthcare by enabling access to genomic-based medicine for patients everywhere. Through its nationwide network of genetic specialists and efficient Genome Care DeliveryTM technology platform, Genome Medical provides health expertise throughout the genomics journey. Prior, Ms. Alderson served as the Chief Commercial Officer and Chief Strategy Officer of Invitae (NYSE: NVTA), a rapidly growing genetic information company. She was also the former CEO and president of CrossLoop Inc., a marketplace for technical services (acquired by Nasdaq: AVG). Prior to that, she was part of the start-up team at Genomic Health Inc. (Nasdaq: GHDX), president of Cinema Circle Inc., (acquired by Nasdaq: GAIA) and the former manager of strategic planning at The Walt Disney Co. Lisa also serves on the board of the Kidney Cancer Association. She has a track record of creating, funding, and managing high-growth ventures. Lisa has an MBA with distinction from Harvard Business School and a B.A. from Colorado State University, where she graduated Summa Cum Laude. Genome Medical, Inc. is bringing genomic-based medicine to patients everywhere by providing rapid access to top clinical genetics specialists via telehealth consultations and its proprietary genomic care delivery platform. The company helps providers, patients, payers, and employers navigate the rapidly evolving and expanding field of genomics to improve health, diagnose and prevent disease and lower the cost of care. Learn more: www.GenomeMedical.com Juan Pablo Delgado, MBA LinkedIn CEO NF Medica, Financial Pro & Host. Credits: Smart money intro Traveler remix by Wildlight Voice: Eva Hernandez Podcast interview music background Bumbling by Pictures of Floating World

Lisa Alderson. Force For Good Co-Founder & CEO, Genome Medical, Inc. Taking action to address inequities in health care. Lisa Alderson is the CEO and Co-Founder of Genome Medical, Inc., a digital health company and virtual medical practice transforming the delivery of healthcare by enabling access to genomic-based medicine for patients everywhere. Through its nationwide network of genetic specialists and efficient Genome Care DeliveryTM technology platform, Genome Medical provides health expertise throughout the genomics journey. Prior, Ms. Alderson served as the Chief Commercial Officer and Chief Strategy Officer of Invitae (NYSE: NVTA), a rapidly growing genetic information company. She was also the former CEO and president of CrossLoop Inc., a marketplace for technical services (acquired by Nasdaq: AVG). Prior to that, she was part of the start-up team at Genomic Health Inc. (Nasdaq: GHDX), president of Cinema Circle Inc., (acquired by Nasdaq: GAIA) and the former manager of strategic planning at The Walt Disney Co. Lisa also serves on the board of the Kidney Cancer Association. She has a track record of creating, funding, and managing high-growth ventures. Lisa has an MBA with distinction from Harvard Business School and a B.A. from Colorado State University, where she graduated Summa Cum Laude. Genome Medical, Inc. is bringing genomic-based medicine to patients everywhere by providing rapid access to top clinical genetics specialists via telehealth consultations and its proprietary genomic care delivery platform. The company helps providers, patients, payers, and employers navigate the rapidly evolving and expanding field of genomics to improve health, diagnose and prevent disease and lower the cost of care. Learn more: www.GenomeMedical.com Juan Pablo Delgado, MBA LinkedIn CEO NF Medica, Financial Pro & Host. Credits: Smart money intro Traveler remix by Wildlight Voice: Eva Hernandez Podcast interview music background Bumbling by Pictures of Floating World

DNA Today's host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “Advances in Rare Disease Diagnosis”, which is hosted by Kira's colleague, Dr. Pawel Buckowicz.With over 6,000 rare diseases, reaching diagnosis is a long and arduous process for the 300 million people worldwide affected by rare disease. Advances in technology, collaboration, bioinformatics and more hold the promise to end or reduce this diagnostic odyssey. To address these advancements, PhenoTips invited Dr. Stephen Kingsmore, Dr. Marshall Summar, and Dr. Ellen Thomas.Dr. Stephen Kingsmore, the inaugural President & CEO of the Rady Children's Institute for Genomic Medicine, previously held roles as Director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital, President & CEO of the National Center for Genome Resources, and Chief Operating Officer of Molecular Staging Inc. Dr. Kingsmore's rapid genome diagnosis was ranked as one of the top 10 medical breakthroughs of 2012 by TIME magazine, and his 26-hour genetic sequencing garnered him the Guiness World Record for the fastest genetic sequencing in the world.Dr. Marshall Summar is the Margaret O'Malley Professor of Genetic Medicine and Chief of the Division of Genetics and Metabolism at Children's National Hospital. In addition, he launched and directs Children's National's first clinical Rare Disease Institute, the largest clinical division of its kind treating over 8,000 rare disease patients per year. Dr. Summar currently chairs the National Organization for Rare Disorders' Scientific and Medical Advisory Committee as well as Co-Chairing the Research Committee for the Rare Disease Diversity Coalition. His research focuses on adapting knowledge from rare diseases to mainstream medicine.Dr. Ellen Thomas is Clinical Lead for Rare Disease and Clinical Safety Officer at Genomics England, Clinical Advisor to the Genomics Unit at NHS England and Improvement, and a Consultant in Clinical Genetics at Guy's and St Thomas' NHS Trust. As part of the Genomics England Science Team led by Professor Sir Mark Caulfield, she has worked on delivery of the 100,000 Genomes Project, and now focuses primarily on Genomics England's contributions to the Genomic Medicine Service, as well as supporting the interface between research and clinical care for participants and researchers within the National Genomic Research Library.In this panel discussion moderated by Dr. Pawel Buczkowicz, leading rare disease clinicians and researchers address:The latest technological advances helping to reduce the diagnostic odyssey for patientsThe greatest challenges faced by patients and clinicians and methods to overcome themThe role of bioinformatics in the analysis of large datasets generated from sequencingThe role of rare disease diagnosis in precision medicine.Tune in for the next PhenoTips Speaker Series with our host Kira Dineen! Join us live on March 23rd from 11 am – 12:15 pm EST, for the 18th installment of PhenoTips' Speaker Series, “Future of Hereditary Cancer Genetic Counseling”. The Future of Hereditary Cancer Genetic Counseling is a panel discussion and interactive Q & A with Jill Stopfer, Associate Director of Genetic Counseling at the Dana Farber Cancer Institute, Jessica Corredor, Senior Genetic Counselor at the University of Texas MD Anderson Cancer Center, and Emily Nazar, Lead Cancer Genetic Counselor at Genome Medical. Register for free here. Stay tuned for the next new episode of DNA Today where we wrap up our rare disease month celebrations with Keith McArthur from Unlocking Bryson's Brain podcast! New episodes are released on Fridays. In the meantime, you can binge over 170 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Preparing for a career in genetics? Keck Graduate Institute in Claremont, California, is a recognized leader in healthcare and biotech education and offers two master's programs ideal for those looking to impact the genetics field. The master's in human genetics and genetic counseling will train you to become an innovative, collaborative, and caring genetic counselor. The master's in human genetics and genomic data analytics will give you hands-on experience with the technologies and information revolutionizing the future of medicine. Learn more about KGI's innovative programs by visiting kgi.edu. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

On this episode, Dr. Gillian Bell, a Doctor of Clinical Pharmacy, shares her path from pharmacy school to her non-traditional PharmD job as Pharmacogenomics Lead, Genome Medical.  On This Episode We Discuss:  • Gillian's education (Brief)  • Dr. Bell's work experience prior to PGx (Brief) Residency  • Gillian's PGx work experience prior to Genome Medical (Brief) Mission Hospital  • Brief description of Genome Medical, its mission, its services, its clients  • Gillian's roles and responsibilities as the Pharmacogenomics Lead at Genome Medical  • What does a typical day at Genome Medical look like for its pharmacists? How do the pharmacists interact with the genetic counselors?  • “Genetic Counseling” or “PGx Inclusive Medication Therapy Management' do the pharmacists provide one or the other or both? Neither? To whom are the services provided? Providers and/or to patients?  • Gillian's advice to pharmacists who want to pursue a career in PGx  Learn more about your ad choices. Visit megaphone.fm/adchoices

On this episode, Dr. Gillian Bell, a Doctor of Clinical Pharmacy, shares her path from pharmacy school to her non-traditional PharmD job as Pharmacogenomics Lead, Genome Medical.  On This Episode We Discuss:  • Gillian's education (Brief)  • Gillian's PharmD work experience prior to PGx (Brief) Residency  • Gillian's PGx work experience prior to Genome Medical (Brief) Mission Hospital  • Brief description of Genome Medical, its mission, its services, its clients  • Gillian's roles and responsibilities as the Pharmacogenomics Lead at Genome Medical  • What does a typical day at Genome Medical look like for its pharmacists? How do the pharmacists interact with the genetic counselors?  • “Genetic Counseling” or “PGx Inclusive Medication Therapy Management' do the pharmacists provide one or the other or both? Neither? To whom are the services provided? Providers and/or to patients?  • Gillian's advice to pharmacists who want to pursue a career in PGx  Learn more about your ad choices. Visit megaphone.fm/adchoices

On this episode, Dr. Gillian Bell, a Doctor of Clinical Pharmacy, shares her path from pharmacy school to her non-traditional PharmD job as Pharmacogenomics Lead, Genome Medical.  On This Episode We Discuss:  • Gillian's education (Brief)  • Gillian's PharmD work experience prior to PGx (Brief) Residency  • Gillian's PGx work experience prior to Genome Medical (Brief) Mission Hospital  • Brief description of Genome Medical, its mission, its services, its clients  • Gillian's roles and responsibilities as the Pharmacogenomics Lead at Genome Medical  • What does a typical day at Genome Medical look like for its pharmacists? How do the pharmacists interact with the genetic counselors?  • “Genetic Counseling” or “PGx Inclusive Medication Therapy Management' do the pharmacists provide one or the other or both? Neither? To whom are the services provided? Providers and/or to patients?  • Gillian's advice to pharmacists who want to pursue a career in PGx  Learn more about your ad choices. Visit megaphone.fm/adchoices

DNA Today's host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Genetic Counseling”.This episode features Past President of the National Society of Genetic Counselors, Amy Sturm, and Past President of the American Board of Genetic Counseling, Erynn Gordon. Amy and Erynn draw on their decades of experience in genetic counseling to prepare for the fast approaching future of genetic counseling. As genomics become common practice in mainstream healthcare, clinical genetics is expected to expand from focusing on rare diseases to common and preventable and/or treatable conditions. While the details and timeframe of this transition is unknown, it is clear that genetic counselors are poised to champion this change and transformation. To prepare for this fast approaching future, PhenoTips invited Amy Sturm and Erynn Gordon to share their experience-based insights.Erynn Gordon is currently the Founder and President of Ripple Genetics Consulting, with prior VP and Presidency roles at Genome Medical, 23andMe, and the Coriell Personalized Medicine Collaborative. With 20 years of experience, Erynn has been deeply engaged in the genetic counseling community, having served as past president of the American Board of Genetic Counseling and on the Board of Directors for the National Society of Genetic Counselors.Amy Sturm is a Genetic Counselor and Professor within the Genomic Medicine Institute at Geisinger with nearly 20 years of experience in the field of genetic counseling. Amy was the 2019 President of the National Society of Genetic Counselors, and currently serves as the Chair of the Advisory Board to the NIH All of Us Research Program's Genetic Counseling Resource and Co-Chair of the NLA Genetics Working Group. In addition, she is on the NLA Scientific Statements Committee and the American Heart Association's Advocacy Coordinating Committee and Genomic and Precision Medicine Leadership Committee of the Council on Genomic and Precision Medicine.In this discussion with Kira Dineen, Amy Sturm, and Erynn Gordon will draw on their experiences to provide insights on:Historic and current uses of technology in genetic counsellingFuture applications of technology that can shape the practice of genetic counsellingThe role population genetics will play in precision medicineChallenges and barriers to mainstream integration of genetic counsellingThe themes covered in this Speaker Series session were inspired by the Laura Hercher 2020 paper, “Pondering the future of genetic counseling: An adolescent field comes of age”.As an amendment to the chatbots portions of the panel discussion, Amy Sturm would like to clarify that her collaborations with Clear Genetics began in 2017. During the discussion, she misspoke and stated that chatbots have been around since 2007.Stay tuned for the next new episode of DNA Today on November 19th where we learn about Prader-Willi Syndrome. New episodes are released on the first and third Friday of the month, with some bonus episodes. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Polygenic Risk Scores are no longer science fiction. Allelica has created a secure and trusted platform for Polygenic Risk Score analysis and reporting. Health systems and clinical laboratories can be equipped with Allelica's cutting-edge tools to reduce the impact of common disease through genomic medicine. Allelica's Polygenic Risk Scores for common diseases have the highest predictive power on the market. This allows physicians to more effectively help patients lower their risk of life-threatening diseases. Learn more at Allelica.com. Empowering the next generation of clinical genomics. (SPONSORED)Want to chat with genetic counselors? You should attend the virtual open houses at Sarah Lawrence College! In these events you can learn what it's like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master's degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The next open house is on December 7th. Go to SLC.edu/DNAtoday to sign up for the free genetic counseling open houses. See you there! (SPONSORED) Preparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally-optimized patient care and the translation of applied and clinical science breakthroughs to enhance the quality of life. So if you want to be a genetic counselor, check out KGI at kgi.edu/dnatoday. Again that's kgi.edu/dnatoday. (SPONSORED)Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Check out their website to learn more about the clinical study and refer a patient to a study center. (SPONSORED)For centuries, humanity has imagined a magical fountain that could unlock eternal youth. New scientific advances suggest this might actually be a reality in the not-too-distant future. Journalist Keith McArthur explores the mysteries of aging in “Unlocking The Fountain” from CBC Podcasts, where you'll meet dreamers, skeptics and cutting edge scientists, including those who believe that the first person who will live to 150 years old has already been born. Keith McArthur hosted “Unlocking Bryson's Brain”, which we recommended last year, and now you can tune into his brand new podcast! We have already binged all the episodes released so far. Join us in listening to “Unlocking The Foundation” everywhere you get your podcasts. (SPONSORED)

DNA Today's host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Adoption and Impact of Digital Tools in Genetic Counseling”. This episode features a panel of genetic counselors, who are digital champions at their respective practices, discuss the impact of digital tools on their departments as well as their experience and insights championing the adoption of digital tools.As genetic testing becomes increasingly common, genetic counselors face increasing demand that they struggle to meet due to low numbers of genetic professionals in clinical care. Supplementing genetic counseling practice with digital tools is necessary in order to provide essential services while mitigating burnout, but genetic counselors and genetic departments face significant barriers to adoption. To help lessen these barriers, PhenoTips invited genetic counselors Scott Weissman, Amy Taylor and Andrew McCarty to share their experiences becoming digital champions, gathering departmental support, and the clinical impact their departments have experienced since adoption.Dr. Amy Taylor is the Lead Consultant Genetic Counsellor at Cambridge University Hospitals NHS Foundation Trust. With over a decade of experience in Genetic Counseling, she heads a team of 14 Genetic Counsellors who provide high quality service to patients in the East Anglia region. Her specialist interests include cancer genetics, cardiac genetics and neurofibromatosis type 2, and for the last six years she has been a member of the UK Cancer Genetics Group Council. Amy's articles have been published in prestigious journals such as Clinical Genetics and Journal of Medical Genetics.Andrew McCarty is a Laboratory Genetic Counselor at Perkin Elmer Genomics. He also operates a private practice based out of Pittsburgh called Clover Genetics working to improve access to genetic services. With a passion for providing genetic education to healthcare providers, students, and individuals seeking care, Andrew has authored numerous scholarly articles, including research on the use of the digital tool Proband in pedigree construction and assessment published in the Journal of Genetic Counseling.Scott Weissman, an NSGC Digital Ambassador, has over 15 years of experience in adult-onset genetic disorders and cancer genetics. He is the founder Chicago Genetic Consultants, LLC and the Cancer Services Lead at tele-genetics provider Genome Medical. Scott has worked with patient advocacy groups (FORCE, Bright Pink, CCARE) as well as lectured across the country on a variety of topics related to genetic counseling and testing. Scott's scholarly articles have been published in prestigious journals such as Genetics in Medicine, Cancer, The Journal of the American Medical Association, Journal of Genetic Counseling, and many more.In this panel discussion moderated by DNA Today's Founder, Producer and Host, Kira Dineen, CGC, Amy Taylor, Scott Weissman, and Andrew McCarty draw on personal experiences to provide insights on:The clinical impact of digital tools in genetic departments through examples from their years of practiceTheir journey of gathering departmental support for adoption of digital toolsThe techniques that allow genetic counselors and genetic departments to overcome challenges in digital tool adoption.Stay tuned for the next new episode of DNA Today on November 12th! This episode will be another insightful installment of the PhenoTips Speaker Series where we explore the future of genetic counseling with Amy Sturm and Erynn Gordon. New episodes are released on the first and third Friday of the month, with some bonus episodes. In the meantime, you can binge over 160 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Check out their website to learn more about the clinical study and refer a patient to a study center. More clinical studies for genetic conditions can be found at KnowRare.com. (SPONSORED)Do you work in a lab? Want to receive rewards when you order supplies? Check out Thermo Fisher Scientific's Aspire program, it's a rewards program created with scientists, like you, in mind. All members receive a free full size trial product every year. Points are earned every time you use or purchase products. Rewards include science themed apparel like a zip up DNA hoodie! Check it out at ThermoFisher.com/aspire-DNAtoday and for a limited time receive 500 bonus points. ThermoFisher Terms and Conditions: Open only to eligible participants in the US (excluding Puerto Rico) and Canada (excluding Quebec). Eligible participants must complete the enrollment process for the Aspire member program in order to be enrolled in the program and receive rewards and benefits. Enrollees must confirm their health care professional or government employment status during time of enrollment. For full terms and conditions of the program, go to thermofisher.com/aspire/tc. Offer is void where prohibited, licensed, or restricted by federal, state, provincial, or local laws or regulation or agency/institutional policy. Other restrictions may apply. (SPONSORED)Polygenic Risk Scores are no longer science fiction. Allelica has created a secure and trusted platform for Polygenic Risk Score analysis and reporting. Health systems and clinical laboratories can be equipped with Allelica's cutting-edge tools to reduce the impact of common disease through genomic medicine. Allelica's Polygenic Risk Scores for common diseases have the highest predictive power on the market. This allows physicians to more effectively help patients lower their risk of life-threatening diseases. Learn more at Allelica.com. Empowering the next generation of clinical genomics. (SPONSORED)For centuries, humanity has imagined a magical fountain that could unlock eternal youth. New scientific advances suggest this might actually be a reality in the not-too-distant future. Journalist Keith McArthur explores the mysteries of aging in “Unlocking The Fountain” from CBC Podcasts, where you'll meet dreamers, skeptics and cutting edge scientists, including those who believe that the first person who will live to 150 years old has already been born. Keith McArthur hosted “Unlocking Bryson's Brain”, which we recommended last year, and now you can tune into his brand new podcast! We have already binged all the episodes released so far. Join us in listening to “Unlocking The Foundation” everywhere you get your podcasts. (SPONSORED)

We are ecstatic to announce that DNA Today won the Best 2021 Science and Medicine Podcast Award. A HUGE thank you to all you listeners who nominated and voted for the show. It is such an honor to win this award two years in a row. As you may recall, this is a People's Choice Award, so it truly is thanks to your support that we won. It's been such a fun journey over the last 9 years hosting and producing DNA Today and it's because of you listeners that we have amazing sponsors who keep the show running. Thank you all again! We have so many more episodes to bring you and we hope you keep tuning to learn more about genetics. In honor of breast cancer awareness month, Kira Dineen is joined by two representatives from Black Cancer Genes, Erika Stallings and Dena Goldberg (aka DenaDNA). Erika Stallings is an attorney, writer and BRCA awareness advocate. In June 204 she learned that she carried a BRCA2 gene mutation, a hereditary cancer mutation that causes up to an 85% lifetime risk of developing breast cancer. In December 2014 she underwent a preventative double mastectomy which lowered her risk of breast cancer to less than 5%.Dena Goldberg Linder, MS, CGC (DenaDNA) is a licensed and board certified genetic counselor. She attended the University of Illinois in Champaign-Urbana for her undergraduate studies where she worked in a Molecular Anthropology lab studying ancestry genetics. Dena graduated from the Genetic Counseling Graduate program at UC Irvine. She worked at the UCSF Cancer Genetics and Prevention Program for four years as the Gordon and Betty Moore Endowed Counselor of Hereditary GI Cancer Prevention. Dena recently left this full time role to pursue Dena DNA and sees patients through Genome Medical. You can also hear her on episode 155 of DNA Today discussing genetic counseling grad school. On This Episode We Discuss:Black Cancer Genes Genetic testing for breast cancer Breast cancer risk among BRCA1/2 carriersRacial disparities in breast cancer diagnosisGenes prevalent in the black community Raising awareness about genetic counseling in the black community To learn more about Black Cancer Genes, visit their website. You can check out Erica's work on Twitter and Instagram, and see what Dena is up to on Twitter, Facebook, LinkedIn, and Instagram.Stay tuned for the next new episode of DNA Today on October 29th, 2021 where I'll be joined by Dr. Alwan of TERIS to discuss teratogens! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 145 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Want to chat with genetic counselors? You should attend the virtual open houses at Sarah Lawrence College! In these events you can learn what it's like to be a genetic counselor. And you will have the opportunity to ask your questions live! You can also hear insight about the Genetic Counseling Master's degree program at Sarah Lawrence College. It is the largest program in the world. Which means there are so many alumni to connect with, including myself. I graduated from the program last year and am really looking forward to chatting with you! The next open house is on October 28th followed by December 7th. Go to SLC.edu/DNAtoday to sign up for the free genetic counseling open houses. See you there! (SPONSORED)Picture Genetics is a unique DNA testing service. Their Picture Wellness kit allows you to learn your genetic risks for cancer and cardiovascular conditions. Including the BRCA genes that we talk about throughout this episode. Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. The test sequences entire genes that are medically actionable. It's easy to order and understand with good looking reports! To order your kit go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your health tomorrow. (SPONSORED)The Illumina mission is to improve human health by unlocking the power of the genome. With Illumina's sequencing-by-synthesis technology, they have only just begun to discover the true impact of genomics in areas including oncology, reproductive health, genetic disease, agriculture, microbiology, and beyond. Knowing the discoveries that lie ahead is what inspires Illumina to push the boundaries of their imagination and constantly drive innovation. To learn more, visit illumina.com. (SPONSORED)Do you or someone you know have Prader-Willi syndrome? Harmony Biosciences is looking for people with Prader-Willi syndrome to enroll in a new clinical study in the United States. Harmony Biosciences will be studying the safety and impact of an investigational medication on excessive daytime sleepiness, cognition, and behavioral function in people with Prader Willi syndrome. Check out their website to learn more about the clinical study and refer a patient to a study center. (SPONSORED)

This episode is an edited recording of the clubhouse meeting Kira Dineen and Dena Goldberg (Dena DNA) hosted on August 26th, 2021 in the “Genetic Counseling and the Future of Healthcare”. We explore making the most of the genetic counseling graduate school experience. Since this was recorded on Clubhouse, the audio is not as high quality as our other episodes. Preparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally-optimized patient care and the translation of applied and clinical science breakthroughs to enhance the quality of life. So if you want to be a genetic counselor, check out KGI at kgi.edu/dnatoday. Again that's kgi.edu/dnatoday. Hosts:Kira Dineen, MS, LCGC, CG(ASCP)CM is a licensed certified prenatal genetic counselor at Maternal Fetal Care, PC in Connecticut. Kira also has 10 years of online media experience in digital marketing and podcasting/radio including 5 podcasts. She started her main show “DNA Today: A Genetics Podcast” in 2012 which became a radio show in 2014. The podcast has since produced over 150 episodes interviewing experts in the field. “DNA Today” won the People's Choice Podcast Awards for the Best 2020 Science and Medicine Podcast. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing genetic experts attended by over 700 genetic counselors around the globe. She writes a monthly blog series, “Explained By A Genetic Counsellor” for Sano Genetics. She received her Diagnostic Genetic Bachelor's of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. Kira received her Master's of Science in Human Genetics at Sarah Lawrence College in New York. Dena Goldberg Linder, MS, CGC (DenaDNA) is a licensed and board certified genetic counselor. She attended the University of Illinois in Champaign-Urbana for her undergraduate studies where she worked in a Molecular Anthropology lab studying ancestry genetics. Dena graduated from the Genetic Counseling Graduate program at UC Irvine. She worked at the UCSF Cancer Genetics and Prevention Program for four years as the Gordon and Betty Moore Endowed Counselor of Hereditary GI Cancer Prevention. Dena recently left this full time role to pursue Dena DNA and sees patients through Genome Medical. Stay tuned for another episode of DNA Today with Dena in October! Featured Panelist: Rachel Mills, MS, CGC, is a certified genetic counselor and Assistant Professor with the University of North Carolina Greensboro Genetic Counseling Program. She serves as the Research & Capstone Coordinator for the Program and supports students completing their Capstone projects. Prior to joining the UNCG faculty, she spent 10 years working as a research coordinator and project manager on studies exploring the utilization of genomics in healthcare. Much of her work focused on implementation of pharmacogenomics (how genes impact our response to medications).Janelle Villiers MS, CGC is the Admissions Director and Assistant Program Director for Sarah Lawrence College Human Genetics' program. Prior to coming to Sarah Lawrence College, she worked in the clinical setting as a clinical supervisor at Jacobi Medical Center and later worked in a laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She is currently a volunteer site visitor for the Accreditation Council for Genetic Counseling (ACGC).Katie Lee, MS, CGC is a certified genetic counselor (CGC) with over five years of practice in reproductive medicine. She worked for one of the most well-known IVF clinics in the US and for a genetic testing laboratory that offers fertility related genetic testing. Katie Lee currently works with one of the largest sperm banks in the county. She has two YouTube channels, one about miscarriage and fertility and another about the genetic counseling career. FAQs Answered:If you are coming back to school after working for a while, any tips for a smooth transition? And is there a way you would organize your notes/information from class to make it easily accessible for rotations?How can you avoid burnout as a genetic counseling student? How to take care of your mental health in a hectic environment?Which rotations will students experience in the first year of the program? Are these exclusively shadowing opportunities or do students engage in the session? How is the transition from telehealth to in person counseling? How many students attend NSGC? Has this changed with COVID-19 now that the conference is offered through virtual route as well? What are your recommendations for students during the conference? What is the timeline for the thesis project? Can students bring their own ideas to develop? Are thesis projects done in groups or individually? What's an example of an interesting thesis project? How often do students present their thesis poster at a conference?What classes are covered in the first year?Are there mentorship programs within grad school? Do these involve fellow students, faculty, supervisors, and/or patient advocates? Resources Mentioned:Dena DNA's book club list on Amazon. You can find many of the authors of these books as guests on DNA Today in these episodes. Rachel Mill's book recommendation of “Make It Stick: The Science of Successful Learning” By Peter C. BrownCheck out the “Genetic Counseling and the Future of Healthcare” on Clubhouse to participate in live genetic counseling conversations. Shoutout for The Genetic Counseling Virtual Career Fair on Sept 28th and Sept 29th. You will have the opportunity to find information about a career in genetic counseling from the National Society of Genetic Counselors and visit with over 50 masters level genetic counselor training programs in the United States and Canada. If you are a prospective student interested in genetic counseling and of minority background, we will also have a Minority Genetic Professionals Network room where you can talk to minority genetic counselors and students. Stay tuned for the next new episode of DNA Today on September 17th! New episodes are released on the first and third Friday of the month, with some bonus episodes here and there. In the meantime, you can binge over 150 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com.

Transparency and openness are important to keep people feeling at home and comfortable with each other. This helps to improve productivity and teamwork, especially in the workplace. Kristin Ashcraft, COO at Genome Medical, talks about this with Dr. Jeremy Weisz on today’s episode of the Process Breakdown Podcast. Ms. Ashcraft explains what takes place at […] The post Empowering Your Team by Creating an Open, Positive and Transparent Work Culture appeared first on SweetProcess.

On Episode 6 of Rosé and DNA, we spoke with population health aficionado Erica Ramos, MS, CGC! Erica is a genetic counselor and Vice President of Population Genomics at Genome Medical, a company that develops technologies, services, and strategies for delivering genomic healthcare. Before joining Genome Medical, she previously held positions at Geisinger Health, Illumina, and Genzyme. Within the genetic counseling community, she is also well known for her past leadership role as president of the National Society of Genetic Counselors in 2018 and continues to serve as an advisor for many high impact public health initiatives including the All of Us Program. Erica is a true visionary for the field and remains a fierce advocate for patients, particularly those in underserved communities. Please support the Access to Genetic Counselor Services Act (H.R. 2144)! Read more about this effort from NSGC. Spread the word about Genome Medical's Force for Good High School Essay Contest! Click here for more information. Wines tasted (and talked about!): Goulée by Cos d'Estournel - Bordeaux from Medoc region, FR Rosé All Day - 'nuff said. Twomey Cellars (California) and Lechuza Winery (Valle de Guadalupe, Mexico) Cheers! R&D

Our guest: Lisa Alderson, Co-Founder & CEO at Genome Medical. "Genome Medical is bringing genomics into everyday care." On this episode, we discussed: - Her background - How she got to where she is today? - What is Genome Medical? - What's next? - ...and much more! WORD FROM OUR SPONSOR: Our sponsor for this episode is BlocHealth. BlocHealth is building the ecosystem of healthcare services and solutions to power the future of healthcare. Through the platform, healthcare professionals and organizations can use their credentialing data for more! They can store their credentialing and licensing-related documents, fill out a smart, common application and use the information within it to order multiple services such as provider enrollment, license registration, license renewals, and more! For more information, please go to www.blochealth.com and be sure to follow BlocHealth on social media - @blochealth This podcast was recorded in December 2020. To learn more about Genome Medical please use the links below: - Website - LinkedIn - Facebook - Twitter Also, be sure to follow Slice of Healthcare on our social channels: - Website - Facebook - LinkedIn - Twitter

Dedicated to bringing genomics to everyday care https://outcomesrocket.health/lisaalderson/2019/09/

Lisa Alderson is the co-founder and CEO of Genome Medical which is a telegenomics technology and services company allowing access to genomic-based medicine. The company has raised over $60 million from investors such as Canaan Partners, GE Ventures, Perceptive Advisors, Kaiser Permanente Ventures, Techammer, Casdin Capital, Manatt Venture Fund, and Samsung Catalyst Fund to name a few. 

Lisa Alderson is the co-founder and CEO of Genome Medical which is a telegenomics technology and services company allowing access to genomic-based medicine. The company has raised over $60 million from investors such as Canaan Partners, GE Ventures, Perceptive Advisors, Kaiser Permanente Ventures, Techammer, Casdin Capital, Manatt Venture Fund, and Samsung Catalyst Fund to name a few. 

Episode 133 of Health in 2 Point 00 is brought to you by the letter P — that's P for PBMs, of course. In this episode, Jess and Matthew talk about Genome Medical extending their series B and getting another $14 million on top of the $23 million they already raised for their remote genetic counseling services, the FCC adding another $198 million to their rural health program, bringing the funding to a whopping total of $802 million, Anthem's PBM IngenioRx acquiring pharmacy startup Zipdrug, and Capital Rx, a startup PBM, announced a deal with Walmart.

The move to support the genetics-focused telehealth company comes as the coronavirus cases surge in the US. Learn more about your ad choices. Visit megaphone.fm/adchoices

Today's Guest: Robert Green, MD | Director, G2P Research, Division of Genetics, Brigham & Women's Hospital | Founder, Genome Medical | Professor of Medicine (Genetics), Harvard Medical School Greg and Robert explode some of the persistent myths around genetic testing and dive in to the future of genetic testing amongst healthy populations Important Links: Robert's Bio: https://www.genomes2people.org/about/director/ Genomes2People: https://www.genomes2people.org/ Genome Medical: https://www.genomemedical.com/ Robert's LinkedIn: https://www.linkedin.com/in/robert-green-md-mph-54286135/ Robert's Twitter: https://twitter.com/RobertCGreen

Lisa Alderson has been helping to build genetic testing companies for a while. In 2016 she co-founded her own company, Genome Medical, a tele-genomics firm to help patients and providers understand genetic testing results. Anyone in the genetic testing industry will know that Genome Medical’s offering addresses a burning need. As Lisa remarks in today’s show, genetics is complicated.

Dedicated to bringing genomics to everyday care https://outcomesrocket.health/lisaalderson/2019/09/

Join us today as we speak with Lisa Alderson from Genome Medical about the future of genomics.

Today we explore genomics and how it will transform medicine. My guest is Lisa Alderson, the CEO and co-founder of Genome Medical — a fast growing company in the emerging field of genomics. Genome Medical provides expertise to both individuals wanting to explore their DNA, and to health care providers wanting to offer genomic medicine.    We explore how genomic medicine will transform health care.   Lisa on Twitter: https://twitter.com/lisaa?lang=en Genome Medical: https://www.genomemedical.com   More at: https://www.MindAndMachine.io

Host Skip Rosoff hosts a panel discussion of experts on the topic of at-home DNA testing market currently gaining popularity in the US, and how privacy and regulation issues are now emerging, on The Business of Health Care. Expert Panelists: Erynn Gordon, Certified Genetic Counselor and VP of Clinical Operations at Genome Medical; Robert Field, Professor of Law and Professor of Health Care Policy and Management at Drexel University; and Dr. Arthur Caplan, Bioethics Professor at NYU. See acast.com/privacy for privacy and opt-out information.

Serial entrepreneur Lisa Alderson, co-founder and CEO of Genome Medical, shares her vision for the future of medicine, along with real-world advice for those seeking to start their own company: Discover and follow your passion to ensure you stay driven through the highs and lows. Above all, venture into unfamiliar territory in order to build the confidence to embrace change.

Serial entrepreneur Lisa Alderson, co-founder and CEO of Genome Medical, shares her vision for the future of medicine, along with real-world advice for those seeking to start their own company: Discover and follow your passion to ensure you stay driven through the highs and lows. Above all, venture into unfamiliar territory in order to build the confidence to embrace change.

Serial entrepreneur Lisa Alderson, co-founder and CEO of Genome Medical, shares her vision for the future of medicine, along with real-world advice for those seeking to start their own company: Discover and follow your passion to ensure you stay driven through the highs and lows. Above all, venture into unfamiliar territory in order to build the confidence to embrace change.

Patrick Pilch, Managing Director and National Leader of BDO’s healthcare advisory practice, talks with Lisa Alderson, co-founder and CEO of Genome Medical; Lee Jones, CEO of Rebiotix; Martin Kelly, founder and CEO of HealthXL; and Dr. William Payne, co-founder and CEO of myowndoctor.com, about how disruption is creating some opportunity for investments in healthcare and improving patients’ lives. Tune in to the full episode to hear about: The exponential growth in genetic testing and genomic technologies New drug therapies that are based on live organisms Innovation in technology platforms connecting patients, providers, payers, industry, and investors

For a skydiver who’s motto is “Just jump out and go”, the journey from chasing down Sandanista kidnappers to driving Disney strategy to genomics pioneer sounds sort of rational. Lisa Alderson, founder and CEO of Genome Medical, is one of those special someones who thrives on adrenaline and channels it to great effect. Lisa went […]

“The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus. The conference was full of healthcare professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. In this episode, I share highlights from some of the presentations including from Francis Collins, the NIH Director. Francis Collins, Director of National Institute for Health, shares that the NIH also stands for hope. Reasons for hope include uncovering life’s foundations, translating discovery into health and moving forward together. Collins gave an overview of the different projects ongoing at NIH, starting with the backstory of the Human Genome Project. A major aspect of the project that has impacted the future of research and healthcare was the data sharing. Every 24 hours, new data collected from the day was uploaded allowing researchers to start using the data in their own research. It would have taken years if the project had waited to release data when it was officially published. This idea of data sharing has increased collaboration between scientist, accelerating the rate of research and development. Collins also shared his excitement around CRISPR, the gene editing technology. From basic research to human trials. This is huge as people often say basic research is not worth the money, but every once in awhile something like this comes along and completely changes the field. CRISPS has already achieved the status of a revolution in medicine and biotechnology. Collins predicts it will cure the first molecular disease, Sickle Cell Disease. The current major NIH project is “All of Us” (formerly Precision Medicine Initiative). Beta launched in May 2017 with a full launch in Spring 2018 where it will ramp up to having over 100 locations. The purpose of the project to accelerate healthcare, specifically for individualized care. Enrolling one million participants is the goal. The term participants is key, as opposed to human subjects, as the patients are considered partners in this journey. Why now? One main reason is the insane drop in the cost of sequencing, in 2004 it costs $22 million to sequence a genome, now in 2017 the cost is $800. “We don’t have a healthcare system, it’s a sickcare system” Collins explained. The more data we can provide showing prevention is more effective than treatment will help us make this transition in our health care approach. Collins also commented on the exciting new field of microbiome research, studying the bacteria that live in and on us. Human Microbiome Project’s mission is to generate resources for comprehensive characterization of the microbiome. It started in 2008 and is now in it’s second phase. George Weinstock, professor at Jackson Laboratories, state there are 754 studies on clincialtrails.gov (as of 10/25/17) that list the microbiome. New genetic sequencing technologies (like Next Generation Sequencing) has driven this field. Research centers around the relationship between disease and the microbiome. The microbiome has additional obstacles when researching, compared to genomics, due to it’s enormous plasticity. Our microbiome changes with our environment, diet etc. One interesting research study mentioned studies Olympic level athletes to find out if there is a “golden microbiome”, so far they have found a bacteria in common with many of these athletes, M. smithii. Another advancement in the field is an FDA approved product produced from microbiome research data, AEObiome’s MotherDirt. It is a body spray that is designed to be compatible with the microbiome of the skin. James Lu, Co-Founder and Senior Vice President of Applied Genomics, Helix, discussed direct to consumer genomics and a few interesting new genetic themed apps (Neanderthal by Insitome, BABYGlimpse by HumanCode). He also talked about emerging platform for participatory research such as Precise.ly, which tracks symptoms and diseases. Lisa Anderson, Co-Founder and Chief Executive Officer of Genome Medical, stressed the potential genetics/genomics medicine has to improve patient outcomes and reduce costs of care, YET it’s not accessible to patients despite the technology existing. Genetic testing is growing 20-25% yearly, however the workforce is only growing by 3%. This gap is continuously growing. Her company aims to reduce this gap by providing real time access to genetic counseling. Anderson also predicts within 5 years every cancer patient will have germline and somatic sequencing. Andrew Ury, Chief Executive Officer and Founder of ActX, explained how direct-to-consumer genetics can be used for a potential screening for drug compatibility (pharmacogenomics). 90% of patients have potential drug genomic interactions. This is especially useful for mental health medications. An announcement/reminder that the first Genetic Counseling Awareness day will be on November 9th. Follow activities with #IAmAGeneticCounselor and on National Society of Genetic Counselor’s website.