PhenoTips Speaker Series: A Genetics Podcast

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...

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 buildi...

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 coll...

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...

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...

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 asp...

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...

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. T...

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...

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.

Professor and Director Emeritus of Geisinger’s Department of Genomic Health, Dr. Marc S. Williams, addresses the current shortcomings of EHR systems in the genomics age, barriers faced in expanding EHR systems to be compatible with genomic information, the role of EHRs in advancing genomic medicine, and ethical, legal, and social implications involved in incorporating genomic information into EHRs...

Principal Investigator at the International Laboratory for Human Genome Research (LIIGH), UNAM, Dr. Claudia Gonzaga-Jauregui addresses challenges in improving the accessibility of rare disease care, barriers faced by medical professionals and patients, improving diversity in data sets and ethical considerations, and best practices in improving equitability of rare disease care.

International leaders in genomics, Dr. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman, discuss the optimal utilization and collection of genomic data, challenges to applying population genomics in clinical care, the ethical considerations of data sets and methods to improve diversity, advancing clinical care through delivery models, channels, and technologies, and best practices for levera...

International genetic counselors, and LGBTQ+ community members, advocates, educators, and researchers, Dr. Jehannine Austin, Andy Cantor, Josephine Giblin, and Katie Gallagher, discuss protecting patients during times of unprecedented legislation, creating psychologically safe and inclusive environments, supporting access to equitable care, representation in family history collection, and resource...

Tier 1 Canada Research Chair in Rare Disease Precision Health and primary investigator at the national Care4Rare Canada Consortium, Dr. Kym Boycott, presents the methods by which Care4Rare facilitates the translation of genome-wide sequencing technology, explains how Care4Rare and the All for One Precision Health Partnership supports data-sharing and facilitates research, illustrates the national...

Genetic counselors with research interests in burnout, Erin Wadman and Brittney Johnstone, and experienced Lead Genetic Counsellor, Vishakha Tripathi, discuss the factors leading to burnout among genetic counselors, signs to guide self-identification of burnout, mitigation and coping strategies, as well as resources and methods to help support colleagues experiencing burnout. Hosted by DNA Today's...

Leader in the development of interoperability standards and PhenoTips CEO, Dr. Orion Buske, and PhenoTips' Interoperability Specialist, Charles Keenan, discuss the ways in which PhenoTips is helping rare disease networks with the adoption of interoperability standards to integrate workflows, the role of interoperable data in improving diagnostic outcomes, the application of structured pedigree and...

Transgender patient advocate, Holden Bender Bernstein, hereditary cancer genetic counselor, Joanna Mercado, and prenatal genetic counselor, Marney Brillinger, discuss best practices to improve clinic experiences for transgender and gender non-conforming patients, gender-affirming family history collection, challenges to providing gender-affirming care in existing service delivery models, and educa...

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...

Clinical Geneticist at Cincinnati Children's Hospital, Dr. Loren Peña, Medical Geneticist at Children’s Hospital Colorado, Dr. Austin Larson, and Assistant Professor of Pediatrics at the University of Michigan Health, Dr. Amanda Barone Pritchard, discuss challenges in current diagnostic journeys, the latest technological advancements, predictions for the future of genetic testing landscapes,...

Clinical Geneticist at the Children’s Hospital of Philadelphia, Dr. Ian Campbell, Principal Investigator in the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Dr. Bimal Chaudhari, and Consultant in Clinical Genetics at Great Ormond Street Hospital, Dr. Ajith Kumar discuss the biggest challenges patients face in clinical genetic care, how to integrate fe...

Clinical/Research Assistant Director of the Molecular Genetics Laboratory at Children’s Mercy Center for Pediatric Genetic Medicine, Dr. Ana Cohen, presents how Children’s Mercy’s Genomic Answers for Kids initiative uses PhenoTips software to find answers for children and families affected by rare diseases, as well as presenting cases solved by the Genomic Answers for Kids initiative. Hosted by Ph...

Co-Medical Director of the Clinical Cancer Genetics Program at MD Anderson Cancer Center, Dr. Banu Arun, and Chief of Breast Medicine Service at Memorial Sloan Kettering Cancer Center, Dr. Mark Robson, discuss the latest technological advancements in cancer genetics, expected barriers in the field, and methods to prepare practitioners for the future of cancer genetics. Hosted by DNA Today's Kira D...

CEO and President of My Gene Counsel, decorated patient advocate, and thought leader, Ellen Matloff, discusses the evolving role genetic counselors play in precision medicine as genetic testing increases in frequency and accessibility. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/evolving-role-of-genetic-counselors.html

Precision medicine thought leader and founder of the groundbreaking Human Phenotype Ontology, Dr. Peter Robinson, presents insights on the importance of deep phenotyping for genomic analysis in precision medicine. Hosted by PhenoTips’ Chief Operating Officer Dr. Pawel Buczkowicz. Watch the full episode at https://phenotips.com/speaker-series/deep-phenotyping-in-precision-medicine.html