PhenoTips Speaker Series: A Genetics Podcast

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Jun 2026

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About the show

PhenoTips and DNA Today's Kira Dineen host thought leaders and experts in the field of genetics and genomics to discuss cutting-edge technologies, techniques, best practices, and emerging disciplines in genetic counseling, clinical genetics, and bioinformatics. Learn more at https://phenotips.com/speaker-series.html

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36 recent

June 24, 20261 hr 1 min

Kayla Horowitz, Darius Haghighat, and Marissa Adams on Intersex Affirming Genetic Care

A panel discussion and interactive Q&A with international genetic counsellors, researchers, and advocates for safe and affirming intersex genetic care. Hosted by Kira Dineen. Kayla Horowitz, Darius Haghighat, and Marissa Adams discuss: The role of genetic professionals in intersex healthcare Considerations for safe and affirming genetic care for intersex individuals Educational gaps in genetic counseling and how to address them The role of genetic professionals in intersex advocacy and education Additional resources and further reading: Toward affirmative intersex health communication in Canada International Intersex Groups Directory Evolving language reflects evolving understanding: updated terms for anatomical description in i/VSC/DSD Intersex Resources for Medical Students Learning Resources – Intersex Health Intersex Brochures Intersex Memoirs Intersection Documentary Every Body film Hans – Intersex Youtuber

April 22, 20261 hr 0 min

Dr. Colleen Campbell, Megan Trinkle-Knotts, and Andrea Spencer on Building Business Cases for Genomics

A panel discussion and interactive Q & A with genetic counseling directors, healthcare consultants, and business case experts. Hosted by Kira Dineen. Dr. Colleen Campbell, Megan Trinkle-Knotts, and Andrea Spencer discuss: Where to begin: connections and resources to get started How to craft compelling narratives The numbers behind the story: backing up cases with data Best practices for building strong business cases Resources: NSGC Cancer Genetics Business Case Toolkit An Introduction to the Genetic Counseling Business Case Experience: Learnings from NSGC’s First Business Case Summit

February 28, 20261 hr 2 min

Dr. Nara Sobreira, Matthew Osmond, and Dr. Orion Buske on Matchmaking for Rare Disease Diagnosis

A panel discussion and interactive Q & A with the strategists, developers, and researchers behind patient matchmaking initiatives. Hosted by Kira Dineen. Dr. Nara Sobreira, Matthew Osmond, and Dr. Orion Buske discuss: Patient matchmaking as a driver of diagnosis The technology, interoperability, and structured data powering matchmaking platforms The future of matchmaking and international collaboration Learn more about the Variant Level Matching Network. Learn more about the Matchmaker Exchange.

September 29, 20251 hr 0 min

Dr. Eric Green, Dr. Colleen Campbell, Brian Reys, and Marianne Olson on Proving Profitability in Genomics

A panel discussion and interactive Q & A with thought leaders in genomics and genetics revenue researchers and advocates. Hosted by Kira Dineen, Dr. Colleen Campbell, Dr. Eric Green, Brian Reys, and Marianne Olson discuss: Demonstrating the direct and downstream benefits of multiple genetic subspecialties Navigating the challenges of funding and reimbursement in light of evolving billing codes How to build strong business cases

June 26, 20251 hr 1 min

Kimberly Zayhowski, Diane Koeller, and Josephine Giblin on Gender Affirming Cancer Genetic Counseling

An international panel of cancer genetic counselors with research and advocacy interests in LGBTQ+ affirming care, NHS Bristol’s Josephine Giblin, Dana-Farber Cancer Institute’s Diane Koeller, and Boston University School of Medicine’s Kimberly Zayhowski, discuss: Risk considerations for trans and gender diverse cancer genetic counseling patients Creating safe and inclusive environments in cancer genetic counseling Protecting patients during times of unprecedented legislation Resources and methods to support trans and gender diverse patients Hosted by DNA Today's Kira Dineen. Resources and further reading: Navigating sexual orientation and gender identity data privacy concerns in United States genetics practices NSGC Policy Statement: Distinguishing Sex and Gender to Reduce Harm TGD CanScreen Project Canadian Resource: Queering Cancer CoppaFeel: UK patient resource with gender based language selection

April 23, 20251 hr 0 min

Genetic Counseling with PhenoTips Pedigree Software, with Erica Peacock and Ariel Modeste

Erica Peacock, PhenoTips' in-house genetic counselor and Genetics Workflow Consultant, demonstrates the practical application of PhenoTips' pedigree software in a mock genetic counseling session featuring genetic counseling student, Ariel Modeste, as the "Patient". Following the mock genetic counseling session, DNA Today's Kira Dineen moderates and guides an audience Q&A addressing various aspects of PhenoTips' pedigree software. Throughout the mock session and following discussion, Kira, Ariel, and Erica address: How the pedigree builder is used in genetic counseling practice The pedigree builder’s relationship to patient & family records Commonly asked questions about the pedigree builder considerations Tips & tricks for using the pedigree builder

February 27, 202557 min

Helene Cederroth, Dr. Wendy van Zelst-Stams, Dr. Angelica Delgado Vega, and Dr. Eric Klee on Driving Diagnosis Through Global Collaboration with the Undiagnosed Hackathon

Rare disease researchers and advocates, past and future organizers of the Undiagnosed Hackathon initiative, Helene Cederroth, Dr. Wendy van Zelst-Stams, Dr. Angelica Delgado Vega, Dr. Eric Klee, and Dr. Orion Buske, discuss the innovative annual Undiagnosed Hackathon events. The international panel discuss: International barriers to rare disease diagnosis Global collaboration as a method to drive diagnosis Driving principals, goals, and outcomes of the Undiagnosed Hackathons Resources, methods, and technologies to facilitate collaborative diagnosis

December 2, 20241 hr 1 min

Laura Hercher, Jill Stopfer, and Demetra Georgiou on the Role of Genetic Counselors in Genomic Mainstreaming

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

July 3, 20241 hr 3 min

Rozalia Valentine and Chelsea Wagner on LGBTQIA+ Affirming Prenatal Genetic Counseling

Queer genetic counselor at Boston Children's Hospital, Rozalia Valentine, and lead prenatal genetic counselor at BillionToOne, Chelsea Wagner, discuss creating psychologically safe and inclusive environments, supporting access to equitable care and reproductive options, representation in family history collection, and resources and ways to support LBGTQ+ colleagues and patients, Mentioned in this episode: Rare Insights: Uncovering The Future Of Rare Disease Treatments “Rare Insights” dive deeps into the complexities of rare diseases, exploring real-world insights from passionate industry leaders. Together, we navigate the unknowns and unlock the potential for groundbreaking treatments. Because in this journey, we’re all rare, sharing unique insights and experiences that drive innovation and progress. Learn more by searching for "Rare Insights" wherever you get your podcasts.

June 3, 20241 hr 0 min

Dr. Orion Buske and Dr. Mark Kiel on AI in Genomics

PhenoTips' Chief Technology Officer Dr. Orion Buske and Genomenon's Chief Scientific Officer Dr. Mark Kiel discuss current and future applications of AI in genomics, limitations to the application of AI in genomics, the role of AI in advancing precision medicine, and ethical, legal, and social implications of the application of AI in genomics.

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