In this insightful interview, genetic counselor Andy McCarty discusses the rise of private practice in genetics, the nuances of direct-to-consumer genetic testing, and how to interpret results responsibly. Learn about access, misconceptions, and the importance of professional guidance in genetic testing.

Key Takeaways:

• Not all genetic testing is the same
• Verify results with clinical-grade testing
• Consult a genetic counselor for interpretation of results
• Misleading results can impact your health decisions

Guest Bio:

Andrew McCarty is a genetic counselor focused on bringing accessible, evidence-based genetic services to patients and healthcare teams. As founder of Clover Genetics, he works across specialties to interpret genetic test results, design patient-centered counseling pathways, and advise clinicians on appropriate test selection and follow-up. Andrew has a pragmatic approach: he prioritizes clear communication, action-oriented recommendations, and realistic expectations for what genetic information can and cannot tell us.

Resources:

• Findageneticcounselor.org to search for a genetic counselor near you
• Clover Genetics, Andrew McCarty’s practice

Keywords: genetic counseling, direct-to-consumer testing, private practice, genetic results interpretation, healthcare access, genetic variants, clinical vs consumer testing

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Lori Jones shares her personal journey with Huntington's disease, exploring its symptoms, family impact, and the importance of community and research. Lori shares with us insights into living with risk, making decisions about testing, and advocating for better understanding and treatment.

Keywords: Huntington's disease, genetics, neurodegenerative, family impact, genetic testing, community support, research, memoir, advocacy

Key Topics:

• Genetic inheritance and risk of Huntington's disease
• Family impact and personal stories of living with HD
• The importance of community, support, and advocacy in HD
• Current research, clinical trials, and future hope for HD treatments

Guest Bio:

Lori Jones has personally experienced the effects of Huntington’s Disease (HD) in her family and was instrumental in starting a Team Hope annual event in her area to raise awareness and support for research and community programs. She has been published in the Wisconsin HDSA Update Newsletter, and spoken in the public schools about HD, genetics, and presymptomatic testing. She has contributed short stories for Women in High Def by Diane Markins. A storyteller at heart, she regularly writes and speaks about her experiences with HD and many other topics to groups of all ages. Lori has three adult children and lives with her husband Chris in Wisconsin, when they aren’t escaping north to the Upper Peninsula of Michigan. “Spared: A Memoir of Risk and Resolve” is her first book.

Resources:

• Lori Jones’ Website
• Spared: A Memoir of Risk and Resolve
• Help 4 HD International
• International Huntington Association
• Huntington’s Disease Society of America
• Information on uniQure

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Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In the realm of genetic counseling, understanding and support are crucial for families facing daunting medical news. When I sat down with Anna Chassevent, a seasoned genetic counselor, she shared valuable insights about the importance of walking alongside families during their journeys through uncertain medical terrain. In this post, we’ll explore her thoughts on meaningful communication, the role of personal experience in counseling, and how to foster a supportive environment for families in need.

Key words: genetic counseling, living well, meaning, resilience, uncertainty, patient experience, psychosocial support, healthcare, mental health, genetic diagnosis

Key Takeaways:

• The importance of walking alongside families through unknowns
• Integrating personal lived experience into clinical practice
• Making meaning of challenging news and decisions
• The role of hope, resilience, and living well

Guest Bio:

Anna is a board certified genetic counselor at the Kennedy Krieger Institute, specializing in pediatric neurogenetics. She graduated from The Johns Hopkins/National Institutes of Health Genetic Counseling Training program. She is also an associate professor, guest lecturer, student mentor, and published research author.

She is passionate about supporting families in living well no matter their or their child’s diagnosis through uncovering what is meaningful to them, holding onto their strengths, and recognising their freedom and responsibility amidst life’s unexpected challenges.

Anna has received training in a range of counseling methods and frequently incorporates logotherapy into her practice. In 2020, Anna was nominated by a patient for the esteemed Heart of Genetic Counseling Award.

She is also a cancer survivor and parent to a child with developmental and behavioral delays, which has profoundly shaped how she cares for the families she sees.

Resources:

• “Man’s Search for Meaning” book by Viktor Frankl
• What is logotherapy?
• Findageneticcounselor.org to search for a genetic counselor near you

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In this conversation, Kate talks to Shannon Wieloch about the complexities surrounding therapeutic abortions, particularly in the context of heartbeat laws and genetic counseling. They explore the emotional and medical implications of these decisions, the role of genetic testing, and the impact of legislation on patient care. Shannon shares her experiences working with patients facing difficult choices in wanted pregnancies, emphasizing the need for compassion and understanding in these situations.

Keywords: abortion, therapeutic abortion, heartbeat laws, genetic counseling, patient care, emotional support, healthcare legislation, prenatal care, reproductive rights

Key Takeaways:

• The emotional weight of decisions surrounding pregnancy choices is profound.
• Heartbeat laws often prioritize legal definitions over medical realities.
• Genetic testing can provide crucial information but is not always necessary.
• Patients often face significant emotional and financial burdens when seeking care.
• Legislation can complicate access to necessary medical procedures.
• Many patients feel isolated in their experiences of making pregnancy decisions.

Guest Bio: Shannon M. Wieloch, MS, CGC, is a board-certified genetic counselor with more than 24 years of clinical and industry experience across reproductive, prenatal, infertility, and genomic medicine. She currently serves as Director of Genetic Counseling at Fairfax Cryobank and is the founder of Stork Genetics, LLC, where she provides patient-centered genetic counseling.

Shannon has served in senior clinical, product, and program management roles at Genome Medical, Mayo Clinic, CooperGenomics, and major academic medical centers. She has authored numerous peer-reviewed and professional publications, blog posts, and educational resources, and has regularly contributed to national conferences, podcasts, and professional committees within the National Society of Genetic Counselors.

Here are more resources related to today’s topic:

• Links to Shannon’s pages:
  • https://www.facebook.com/storkgenetic/
  • https://www.instagram.com/storkgenetics/
  • https://www.linkedin.com/company/stork-genetics
• “What You Need to Know About ‘Fetal Heartbeat’ Bills” by Madison Feller, Elle, published May 7, 2019
• “Doctors’ organization: calling abortion bans ‘fetal heartbeat bills’ is misleading” from The Guardian
• Center for Reproductive Rights
• National Network of Abortion Funds

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

In this heartfelt interview, Abby Milburn shares her journey as a mother of a child with Down syndrome and Sanfilippo syndrome, a rare neurodegenerative disease. She discusses diagnosis challenges, advocacy efforts, and the importance of research and policy changes to support children with rare diseases.

Sanfilippo syndrome, Down syndrome, rare diseases, medical advocacy, genetic testing, FDA approval, gene therapy, medical research, advocacy, rare pediatric treatments

Key Topics:

• Sanfilippo syndrome diagnosis and symptoms
• Challenges in medical advocacy and policy
• The role of genetic testing and family history
• Impact of FDA approval process on treatments
• Importance of awareness and community support

Abby Milburn is a wife and stay at home mom to four children 5 years old and under. Her oldest daughter, Lottie, is extremely unique as she has both Down syndrome and Sanfilippo Syndrome.

Lottie’s Cure Sanfilippo Foundation Page: https://give.curesanfilippofoundation.org/campaign/lottie-milburn-or-fighting-to-cure-sanfilippo/c716615

Instagram and Facebook handle: @letssavelottie

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

Here are more resources related to today’s topic:

• Lottie’s Cure Sanfilippo Foundation Page: https://give.curesanfilippofoundation.org/campaign/lottie-milburn-or-fighting-to-cure-sanfilippo/c716615
• Cure Sanfilippo Foundation: https://curesanfilippofoundation.org/
• Senate Hearing Special Committee on Aging: From Regulator to Roadblock: How FDA Bureaucracy Stifles Innovation
• UX111 Gene Therapy for Sanfilippo syndrome type A
• Ask Congress to urge the FDA to take swift action on rare disease treatments

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Chronic pain, invisible illness, Black health. In this conversation, Wunmi Bakare shares her profound journey living with sickle cell disease, detailing the challenges and triumphs she faced from childhood through adulthood. She discusses her experience with a stem cell transplant, the impact it had on her life, and the ongoing challenges she navigates post-transplant. Wunmi emphasizes the importance of patient advocacy, the need for compassionate healthcare, and the creation of Sickle Cell Prodigy, an organization aimed at supporting individuals with sickle cell disease and their families. The conversation highlights the resilience of patients and the importance of community support in managing chronic illnesses.

Key Takeaways:

• Living with sickle cell involves navigating stigma and misunderstanding.
• A stem cell transplant can significantly change a patient's life.
• Post-transplant, patients still face challenges and pain management.
• Advocacy is crucial for patients with invisible illnesses.
• Compassionate care from providers can improve patient experiences.
• Sickle Cell Prodigy aims to support patients and caregivers alike including Pre=Therapy Warriors and Post-Therapy Survivors.

Wunmi Bakare is a multicultural citizen and pioneering advocate in the sickle cell and rare disease community, known for her commitment to inclusion and stigma eradication. With a fervent dedication to advancing awareness and understanding, Bakare leverages both proactive and reactive media engagement to transform perceptions of sickle cell disease. Her lived experience fuels her advocacy and informs her leadership roles on the advisory boards for the National Health, Lung & Blood Institute, the American Board of Medical Specialties, Beam Therapeutics, Vertex Pharmaceuticals, Pfizer, Fulcrum, and Healthful Data as well as her board memberships with the Sickle Cell Knowledge & Information Network, Sickle Cell Disease Partnership, and The Gift of Adoption Fund.

Diagnosed with the severe HbSS form of sickle cell disease at just 18 months old, Bakare's grueling journey led her to participate in a groundbreaking clinical trial at the NIH, culminating in a successful allogeneic stem cell transplant in 2019. Bakare thrives as the Founder of WBPR Agency working across diverse corporate disciplines and providing strategic media counsel to top brands. In 2020, she launched #SickleCellProdigy, a patient-driven nonprofit organization dedicated to redefining survivorship for individuals living with sickle cell disease who are exploring or recovering from transformative therapies, including bone marrow transplant and gene therapy.

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

Here are more resources related to today’s topic:

• Sickle Cell Prodigy website
• Though The Genes Podcast

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.

Primary Care and Genetics: Bringing DNA Into Everyday Healthcare. Primary care is often the first stop in healthcare—but where does genetics fit in? We unpack what’s realistic, what’s hype, and what patients and clinicians should actually expect. This conversation explores the integration of genetics into primary care, highlighting the importance of genetic testing and counseling in improving patient outcomes. The speakers discuss the evolving role of primary care physicians in addressing genetic health, the need for collaboration with genetic counselors, and the growing awareness among patients regarding genetic testing. They emphasize the necessity of ongoing education and advocacy for genetic professionals within the healthcare system.

Key Takeaways:

• Genetic testing can aid in preventative care and early diagnosis.
• Patients often bring their own genetic testing results to primary care.
• Genetic counseling can support primary care physicians in managing genetic concerns.
• Integration of genetics into primary care can improve patient outcomes.
• Genetic testing is not a one-time event; it may require re-evaluation.
• Patients are becoming more informed and proactive about genetic health.
• Collaboration between genetic counselors and primary care is essential.

Mylynda B. Massart, M.D., Ph.D., is a board-certified Family Medicine physician at UPMC, and associate professor at the University of Pittsburgh. She currently serves as the founder and Medical Director of the UPMC Primary Care Precision Medicine clinic and as the Associate Director of Clinical Services for the Institute for Precision Medicine. Dr. Massart is co-director of the HUB Core over Research Inclusivity and Community Partners Core at the Clinical and Translational Science Institute (CSTI). Her research interests are in developing education in genetics and precision medicine for primary care providers and trainees and being a research catalyst facilitating the inclusion of underrepresented populations in biomedical research. She teaches residents and medical students in her clinic and at the hospital and serves as medical director for Bethany Hospice. Currently, Dr. Massart is one of the co-investigators for the All of Us Pennsylvania research project working on community education and engagement. In addition, she is working as a co-investigator to create the local Discovery Biobank at the University of Pittsburgh and developing systems to return precision medicine results to providers and patients. Dr. Massart leads the Community Engagement Alliance Consultative Resource (CEACR), a partnership between the University of Pittsburgh CTSI and Community-Campus Partnerships for Health.

Natasha Berman (she/her) MA, MS, MPH, CGC is a clinical genetic counselor at the UPMC Department of Family Medicine who works within the primary care precision medicine clinic. She provides direct patient care to patients for a variety of indications. She has coauthored multiple textbook chapters covering family medicine genetic topics. Her primary areas of research include improving equitable genetics care.

Please subscribe to this podcast on Apple Podcasts, Spotify, YouTube or wherever you get your podcasts to stay updated on new episodes of All Access DNA. Listen to past episodes on your favorite podcast play by searching “All Access DNA” or by streaming from our website at allaccessdna.podbean.com

Here are more resources related to today’s topic:

• Findageneticcounselor.org to search for a genetic counselor near you
• Access to Genetic Counselor Services Act

Any inquiries on the podcast can be sent to AllAccessDNA@gmail.com

Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ. Our Social Media Lead is Casey Lepley.