What does it really take to move the needle on health equity for rare diseases, especially on Capitol Hill? In this episode, we are joined by Jenifer Waldrop, Executive Director of the Rare Disease Diversity Coalition (RDDC). Under her leadership, the coalition is tackling systemic inequities across the rare disease journey, from timely diagnosis to clinical trial access, treatment development, and sustained care.

With partnerships across biotech, government, and patient advocacy groups, RDDC is reshaping the policy landscape to ensure historically underrepresented communities are not left behind. Right now we are capturing Jenifer’s insider perspective on advocacy strategies, legislative progress, and how every member of the rare disease community can engage in meaningful change. 

Rare Disease Diversity Coalition (RDDC) Website

H.R.1750 - HEARD Act of 2025 (Health Equity and Rare Disease Act of 2025) 

The Tuskegee Syphilis Study  

We Work For Health 

Amgen's Urea Cycle Disorder Series Part 1: #282 The Evolution of Caring for Females With OTC Deficiency

Amgen's Urea Cycle Disorder Series Part 2: #323 Supporting Ongoing Urea Cycle Disorder (UCD) Care

Amgen's Urea Cycle Disorder Series Part 2: #338 Social Determinants of Health and Mental Health in Urea Cycle Disorders

Connect with DNA Today:

Shoutout to listener Grace Dougherty for recommending Jenifer Waldrop to be a guest on the show! Do you have someone you want to hear on DNA Today? Send a pitch to [email protected]. 

Get ready, genetic nerds—another brand-new episode of DNA Today drops next Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

What if we could ease the suffering of patients with undiagnosed or rare diseases?

In this episode, we explore how genomics is reshaping care for some of the most medically complex patients, focusing on the rare disease landscape in Turkey. Our guests are Professor Serdar Ceylaner, a leading medical geneticist and founder of the Intergen Center for Genetics and Rare Disease Diagnosis and Research, and Alice Peng from MGI Tech, a global leader in gene sequencing innovation.

Together, they offer a powerful global perspective on the challenges and solutions in rare disease diagnostics, from rapid whole genome sequencing in the NICU to affordable access in developing regions.

Alice (Yao) Peng, Sales Manager of MGI, is responsible for the Turkish Market. She has been working in the genomics field for eight years, the last five have been with MGI. Her background is in preventive medicine, and she is passionate about bringing innovative genetic solutions to customers in Turkey. 

Professor Dr. Serdar Ceylaner is a medical doctor - medical geneticist who focuses on rare and undiagnosed diseases for both diagnosis and scientific studies. He is the director, partner and founder of Intergen Genetics and Rare Diseases Diagnostic and Research Center and Lokman Hekim University, Department of Medical Genetics. He holds various leadership positions including being the Vice President of the Rare and Undiagnosed Diseases Committee, of the  European Union of Medical Specialists (UEMS). 

Dr. Ceylaner is the former president of the Turkish Medical Genetics Association. He was the founder of the Genetics Department of Zekai Tahir Burak Women's Health and Training Hospital between 1997 and 2017. He has focused on genetics and rare diseases and studies in this field for 30 years. He established a center for diagnosis, research and educational work in this field. Undiagnosed diseases, medical complications, and intensive care unit patients are the main research areas in recent years. He has experience in more than 250 international publications, 10 book chapters, more than 500 conferences, and more than 50 scientific projects.

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Why do some medications work perfectly for one person but cause side effects—or fail completely—for another? The answer often lies in our genes. Pharmacogenomic (PGx) testing analyzes how our DNA affects our response to medications, helping doctors personalize treatment, reduce adverse reactions, and improve outcomes.

Joining us today are Kristy Bouvier and Kathleen O’Brien from Quest Diagnostics, both of whom have decades of experience in the field. Kristy, a product manager, brings deep expertise in pharmaceuticals, while Kathleen, a board-certified genetic counselor, specializes in pharmacogenomics and hereditary oncology.

In this episode, we’ll explore:

✅ How pharmacogenomics (PGx) works and what results the test provides

The Panel: 

Kathleen O’Brien, MS, DABMG, CGC is a board-certified genetic counselor who has been with Quest Diagnostics since 2005. She previously worked in clinical genetic counseling at Stony Brook University Hospital, Winthrop University Hospital (now NYU), and the NYS Institute for Basic Research. She earned her Master of Science in Genetic Counseling from the University of Colorado Health Sciences Center and has a special interest in hereditary oncology and pharmacogenomics, actively contributing to CPIC, NSGC, and the NSGC pharmacogenetics working group.

Resources: 

Quest’s New Pharmacogenomics Panel

GeneReviews

ClinPGx

Sequence2Script

The PREPARE Study

Table of Pharmacogenomic Biomarkers in Drug Labeling

The Clinical Pharmacogenetics Implementation Consortium (CPIC®)

DNA Today Episode #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) with Dr. Josiah Allen 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

This special episode of DNA Today was recorded live during Cocktails & Chromosomes, a celebration hosted by Team Telomere in New York City. Held at the stunning venue donated by Hogan Lovells (390 Madison Ave), the evening brought together the telomere biology disorder (TBD) community, including patients, families, clinicians, and researchers, for cocktails, connection, and powerful conversations.

Two inspiring and informative guests join the episode: 

Jena Robertson is the Program Administrator at Team Telomere, a patient advocate, and mother to Lorelei (“Rori”), a young girl living with a telomere biology disorder.

Together, Jena and Will help us understand both the personal and scientific sides of TBDs, from diagnosis to discovery.

Slight correction: In the interview Kira indicates that Team Telomere exclusively raised $1 million for the disorder, this is incorrect, there were other donors involved that all added up to $1 million including Boston’s Children’s Hospital and the Martin family.

Memorable Quotes

🗨️ “We kept getting misdiagnoses... it was frustrating, but it also pushed us to keep looking until we found someone who understood telomere biology.” – Jena Robertson

🗨️ “It’s rare, but the impact is massive. Understanding telomere biology isn’t just about rare disorders—it’s about aging, cancer, and regenerative medicine.” – Will Mannherz, MD, PhD

About Team Telomere

Team Telomere is a New York–based nonprofit dedicated to supporting families impacted by telomere biology disorders. Through advocacy, community-building events like Cocktails & Chromosomes, and support of cutting-edge research, Team Telomere is lighting the path forward for TBD patients and their families.

Learn more and get involved here. 

Check out these key papers Will Mannherz brought up during the episode related to telomere biology disorders and thymidine research. Many of which he is a co-author on!

Domínguez-González, C., Madruga-Garrido, M., Mavillard, F., Garone, C., Aguirre-Rodríguez, F. J., Donati, M. A., Kleinsteuber, K., Martí, I., Martín-Hernández, E., Morealejo-Aycinena, J. P., Munell, F., Nascimento, A., Kalko, S. G., Sardina, M. D., Álvarez Del Vayo, C., Serrano, O., Long, Y., Tu, Y., Levin, B., Thompson, J. L. P., … Hirano, M. (2019). Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Annals of neurology, 86(2), 293–303. https://doi.org/10.1002/ana.25506

Mannherz, W., Agarwal, S. Thymidine nucleotide metabolism controls human telomere length. Nat Genet 55, 568–580 (2023). https://doi.org/10.1038/s41588-023-01339-5

Mannherz, W., Crompton, A., Lampl, N. et al. Metabolic constraint of human telomere length by nucleotide salvage efficiency. Nat Commun 16, 3000 (2025). https://doi.org/10.1038/s41467-025-58221-7

van der Vis, J. J., van der Smagt, J. J., Hennekam, F. A. M., Grutters, J. C., & van Moorsel, C. H. M. (2020). Pulmonary Fibrosis and a TERT Founder Mutation With a Latency Period of 300 Years. Chest, 158(2), 612–619. https://doi.org/10.1016/j.chest.2020.03.069

Vulliamy, T., Marrone, A., Szydlo, R. et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36, 447–449 (2004). https://doi.org/10.1038/ng1346

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

In this bold and wide-ranging conversation, Ian Wendt and Na-Ri Oh sit down with Andrew Craig—British investor, entrepreneur, and author—to explore how biotechnology is poised to shape the next century in the same way physics and computing shaped the last.

Craig draws on his decades of experience as a London and New York investment banker and as a former partner at WG Partners, where he advised more than 60 biotech companies and worked on marquee deals like the $7.6B sale of Nordia Bank and IPOs for brands like EasyJet and Burberry.

But his latest passion lies at the intersection of finance and innovation: making the case that our future is biotech, without a question mark.

This episode originally aired on RealPharma, which is one of 10 shows in our new science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out!

Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network.

Topics Covered

“The last century was about physics and tech. The next one will be about biology—and by extension, biotech.”

“If success begets success, then a crop of billion-dollar biotech companies in Europe can kickstart a self-sustaining cycle of innovation and investment.”

“People forget that the smartphone they hold was a $100 million science project in the 1990s. Biotech is heading the same direction.”

“We need to fight the narrative that pharma is inherently bad. There are good actors, and we must do a better job telling those stories.”

Biotech isn't just a sector—it's a structural solution to some of humanity’s greatest problems. From disease treatment to environmental restoration, the converging forces of AI, genetics, and biological engineering make this the most consequential time in science since the industrial revolution.

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

This is our fourth installment in our new Mock Genetic Counseling Session Series! In this episode, cardiac and pediatric genetic counselor Monisha Sebastin and student Avital Habshush perform a mock genetic counseling session. The session indication is a family history of sudden death. 

This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. 

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.

We want to take this opportunity to announce a project of Monisha Sebastin’s aimed at improving global access to genetics and genomics services, and they need your help! Monisha Sebastin and her team have been working on the Global Directory of Genetics Professionals, a centralized platform to connect providers across the globe and streamline care for patients, especially those requiring cross-border genetics services.

We’re reaching out to genetics providers like YOU to gather data and contact information for this invaluable resource. If you’re a genetics professional, please take a few moments to fill out the survey and ensure your inclusion in the directory. It took our host Kira Dineen 6 minutes to fill out the survey. 

Your participation will help foster better connections in genomics care worldwide, benefiting both providers and patients alike. So please, take the 6-minute survey here.

Monisha Sebastin, MS, CGC, (she/her) is Senior Genetic Counselor, Pediatrics at the Children's Hospital at Montefiore Einstein. In addition to providing genetic counseling services in genetics clinics, Sebastin specializes in rare diseases, cardiovascular genetics and immunogenetics. In 2018, she earned her Master of Science from Sarah Lawrence College. Sebastian has won multiple prestigious awards including the National Society of Genetic Counselors’ (NSGC) 2024 Audrey Heimler Special Projects Award and the 2022 Heart of Genetic Counseling Award in 2022. We caught up with her right after her win on Episode #212 of DNA Today. Sebastin has been principal investigator and contributor to several research projects, and her work has been published in numerous peer-reviewed journals. Her leadership roles include serving as the 2024 President of the New York State (NYS) Genetics Task Force, co-chairing the International Special Interest Group (ISIG) at the NSGC, among many other roles. 

Avital Habshush (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Habshuch is a graduate of Yeshiva University with a B.S. in Biology. She previously served as a genetic testing coordinate at Dana-Farber cancer Institute. The premise of this mock case was Habshush’s work as part of her internship with DNA Today. 

Indication: 30y AFAB referred to genetics by cardiologist for suspected hereditary LQT syndrome. The patient recently fainted during an exercise class and has a family history of fainting and sudden cardiac death. See cardiology evaluation summary attached. 

Patient’s Name: Lev Loveheart 

Cardiac Evaluation: Resting ECG obtained today shows sinus bradycardia (59 bpm) with prolonged QTc of 495 ms (Bazett). T-wave morphology is broad-based without ischemic changes. Electrolytes and TSH are within normal limits. A 14-day ambulatory ECG monitor (Zio patch) is pending. Given the syncopal event, prolonged QTc, and strong family history—including emotion-triggered syncope—the presentation raises concern for congenital Long QT Syndrome, likely type 2 (LQT2).

Episode #315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally

Episode #287 Familial Hypercholesterolemia with Jess and Julie

Episode #283 Cardiogenetics with Blueprint Genetics

Episode #76 Amy Sturm on Cardiac Genetic Counseling

National Society of Genetic Counselors’ Cardiovascular Genetics Special Interest Group

New York City’s Office of the Chief Medical Examiner Molecular Genetics Laboratory

Long QT Syndrome GeneReview’s Overview

Sudden Arrhythmia Death Syndromes: Long QT Syndrome 

Episode #311: Cancer Session for Breast and Prostate Cancer Family History

Episode #317: Prenatal Session for Advanced Maternal Age

Episode #331: Pediatric Session for Autism

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory. 

The next new episode of DNA Today will drop next Friday! New episodes are released every Friday. In the meantime, you can binge over 350 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, this includes some episodes recorded at NBC Stamford Studios. 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

THIS IS PART TWO, go back and listen to Episode #345 for the first half of this conversation. 

The co-founders of The Science Underground rejoin our host Kira Dineen for the second part of their conversation continued from Episode #345. This episode was also recorded in-person and discusses the importance of effective science communication in genetics and approaches to achieve this. 

The Science Underground was founded by former NIH’s National Human Genome Research Institute communicators Jenny Montooth, Sarah Alex Bates, and Britny Kish. 

Topics Discussed:

The Panel:

Alex Bates is a science communications expert with 20 years of experience leading national, metric-driven campaigns across government, nonprofit, and startup sectors. She is co-founder of The Science Underground, LLC, which crafts culturally competent, science-backed communications for early-stage startups and major consortia. Most recently, she served as Communications Director at the National Human Genome Research Institute (NHGRI), where she led award-winning outreach on topics like the history of eugenics and helped establish NHGRI’s global reputation for innovative public engagement—work that ended with the April 1 HHS layoffs. Alex previously led communications for the National Science Foundation’s Engineering Directorate and BRAIN Initiative, earning Director’s Awards for both Excellence Pioneer and Diversity and Inclusion, and managed BrainFacts.org, a $1.2M science education initiative. She holds master’s degrees in journalism and astronomy, and a bachelor’s degree in physics and English.

Britny Kish is co-founder of The Science Underground, leading administrative and financial operations to support the development of culturally aware, results-driven communications strategies for scientific organizations. Most recently, she served as Deputy Director of Communications at the National Human Genome Research Institute (NHGRI), where she oversaw operations, budgeting, and campaign implementation, and played a key role in advancing equitable science communication and digital outreach. With over 15 years of experience in healthcare administration and communications, Britny specializes in program management, team leadership, and strategic communications, with additional expertise in virtual and exhibit event planning and management within the biomedical research space.

Resources/Links Mentioned:

DNA Today Referenced/Relevant Episodes: 

Most importantly check out The Science Underground! If you have genetics research or a project you are trying to inform people about Britny, Jenny and Alex are THE people to work with. They have already been helping us out at DNA Today and our new podcast network, Gene Pool Media. You can follow them on social media @TheScienceUnderground, including on Instagram, BluSky, and LinkedIn. 

While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

Bioethicist Dr. Madison Kilbride is interviewed by Sarah Lawrence College genetic counseling student Shaun Miller. This is part of Shaun’s internship with DNA Today. 

At the University of Utah, Madison Kilbride is Assistant Professor of Philosophy specializing in bioethics. Her research focuses on ethical implications of genetic testing, particularly direct-to-consumer (DTC) genetic testing, genetic privacy, and family obligations around genetic information. Her work has been published in top journals, including Journal of American Medical Association, Journal of Clinical Oncology, Hastings Center Report, the American Journal of Bioethics, and the Journal of Medical Ethics. From the ethical limits of DTC genetic testing to the complexities of breaching confidentiality to warn at-risk relatives, in this episode Dr. Kilbride dives into some of the most pressing debates in modern medical ethics.

In this conversation, we explore:

Mentioned Articles by Dr. Kilbride:

Dr. Kilbride shares insights from her recent peer-reviewed publications, highlighting the importance of balancing patient autonomy with broader familial and societal responsibilities in genetics.

Want to read even more from Dr. Kilbride? Search her full list of publications on PubMed here.

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 340 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead and Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

Prenatal screening has transformed over the past decade, with Non-Invasive Prenatal Testing, or NIPT, becoming a go-to tool for early risk assessment. But even as adoption increases globally, we’re still facing real gaps, from limited condition coverage to a lack of support in interpreting results.

On this episode, I’m joined by Dr. Fred Ushakov, a renowned fetal medicine expert based in London. We are going to explore how NIPT is evolving and how a next-generation screening tool like Fulgent’s KNOVA is pushing the boundaries of early detection. 

We’ll also dive into how structural scans and single-gene conditions factor into smarter screening strategies, and what patients and providers alike need to know when choosing the right test. 

What We Cover in This Episode:

We want to thank Fulgent for sponsoring this episode. All of our episodes, including this one, are for informational purposes only and do not constitute medical advice. Please consult a healthcare provider for personalized guidance. KNOVA is a screening test and not diagnostic. All results should be confirmed with diagnostic testing and interpreted with the support of a healthcare provider like a genetic counselor.

More on Our Guest:

He has a particular interest in the training and support of doctors and sonographers in other countries to help them to protect and preserve the health of mothers and unborn babies. Dr. Fred Ushakov is graciously donating his time to be a guest on the show to share his authentic experience with KNOVA and is not a paid consultant by Fulgent. 

Relevant or Referenced Links:

Dr. Fred Ushakov’s London Pregnancy Clinic 

Fulgent’s KNOVA NIPT

The SMART Test® NIPT 

DNA Today Episode #317 Prenatal Mock Genetic Counseling Session

Get ready, genetic nerds—another brand-new episode of DNA Today drops on Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 340 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

To celebrate the end of Pride month, we are sharing this episode of the PhenoTips Speaker Series, which was hosted by our own, Kira Dineen. 

The current rise in structural hostility towards transgender and gender diverse individuals highlights the importance of appropriate and affirming care for this medically marginalized community. In cancer genetics, specific factors such as medical transition and psychosocial impacts alter the approach to, and requirements of, genetic counseling for trans patients. To support the unique needs of trans and gender diverse patients in hereditary cancer genetic counseling, this episode of the PhenoTips Speakers series features an international panel of cancer genetic counselors with advocacy and research specialties in inclusive genetic counseling practices for LGBTQ+ patients.

The PhenoTips Speaker Series is one of many podcasts in our brand new science podcast network called Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out!

If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at [email protected]. I’d love to chat with you about the benefits of joining the network.

Kimberly Zayhowski, MS, CGC (she/her), is a genetic counselor, researcher, and assistant professor at Boston University Chobanian & Avedisian School of Medicine. She earned her Master’s in Human Genetics and Genetic Counseling from Stanford University School of Medicine and was one of the inaugural research fellows in the GC-FIRST program at the University of Minnesota. Her research focuses on LGBTQIA+ care, and specifically, the intersection of gender-affirming care and cancer genetics, with an emphasis on community-engaged research to improve clinical practices. Kim was awarded the Jane Engelberg Memorial Fellowship for her work in this area. She also serves on the Editorial Board for the Journal of Genetic Counseling as a Deputy Editor and a Director of Diversity, Equity, and Inclusion Integration. In recognition of her contributions to the field, she received the AGCPD Outstanding Clinical Supervisor Award in 2021 and the NSGC Leader in Cultural Advocacy Award in 2022.

Josephine Giblin (she/her/hers) is an NHS genetic counsellor working in Bristol, in the South West of England with an interest in barriers that LGBTQIA+ patients face in accessing genetics care. In the last few years, she has been particularly focused on trans and gender diverse patients with inherited cancer predisposition, leading a project to better equip genetics services to meet the needs of these patients. Recently Josephine worked with the UK Cancer Genetics Group to develop the first UK recommendations for the management of trans and gender diverse patients with inherited cancer risks.

Diane Koeller (she/her/hers) is a senior genetic counselor in the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute in Boston, MA. She completed her MS in Genetic Counseling and MPH in Health Behavior and Health Education at the University of Michigan in Ann Arbor in 2016. She provides clinical genetic counseling for individuals and families with hereditary cancer risks. Diane collaborates on research studies in a variety of areas including hereditary lung cancer, LGBTQIA+ inclusive care, and genetic counseling and testing implementation in low resource settings. She is involved in education and advocacy focused on healthcare equity for transgender and gender diverse individuals. She is a co-founder and former co-chair of the Gender-Inclusive Subcommittee of the National Society of Genetic Counselors Cancer Special Interest Group.

#190 PhenoTips: Gender Affirming Care in Genetic Counseling

#212 NSGC Recap 2022 (Amplify Sprouted for Gender Inclusive Cancer Genetic Counseling)

#213 Congenital Adrenal Hyperplasia and Gender with Sage Sargent

#243 PhenoTips: Navigating Barriers in LGBTQIA+ Genetic Care

#302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care

#344 Trans and Gender Diverse Patients' Experiences with Reproductive Healthcare

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 340 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].