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 metho...
Jun 26, 2025•1 hr 1 min•Ep. 33
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, Ar...
Apr 23, 2025•1 hr•Ep. 32
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, ...
Feb 27, 2025•58 min•Ep. 31
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 co...
Dec 02, 2024•1 hr 1 min•Ep. 30
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 ...
Jul 03, 2024•1 hr 3 min•Ep. 29
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.
Jun 03, 2024•1 hr 1 min•Ep. 28
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.
Apr 23, 2024•1 hr 3 min•Ep. 27
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.
Mar 27, 2024•1 hr 1 min•Ep. 26
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 leveraging population genomics in routine clinical care.
Sep 29, 2023•1 hr 15 min•Ep. 25
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 resources and best practices to support LBGTQ+ colleagues and patients.
Jun 19, 2023•1 hr 3 min•Ep. 24
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 data infrastructure built on PhenoTips technology for sharing data and matchmaking, and provides thr...
Mar 08, 2023•1 hr•Ep. 23
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 Kira Dineen.
Dec 21, 2022•1 hr•Ep. 22
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 phenotypic data in diagnosis, and recent rare disease projects across the US, UK, and Canada. Hoste...
Oct 11, 2022•1 hr•Ep. 21
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 education and advocacy in the genetics and genomics community. Hosted by DNA Today's Kira Dineen.
Jul 11, 2022•1 hr 23 min•Ep. 20
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 imp...
Apr 11, 2022•1 hr 15 min•Ep. 18
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, and changes to the infrastructure required to improve diagnostic yield in pediatric genetics. Hosted by D...
Apr 11, 2022•1 hr 14 min•Ep. 19
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 feedback to improve patient care, and navigating systemic barriers to improve accessibility of care in...
Feb 24, 2022•1 hr 16 min•Ep. 17
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 PhenoTips COO and VP of Scientific & Medical Affairs. Watch the full presentation at https://pheno...
Jan 26, 2022•1 hr•Ep. 16
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 Dineen. Watch the full episode at https://phenotips.com/speaker-series/the-future-of-cancer-genetics....
Dec 13, 2021•1 hr 9 min•Ep. 15
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
Nov 01, 2021•1 hr 2 min•Ep. 2
Director of Children’s National Hospital’s Rare Disease Institute, Dr. Marshall Summar, President and CEO of Rady Children’s Institute for Genomic Medicine, Dr. Stephen Kingsmore, and Clinical Lead for Rare Disease at Genomics England, Dr. Ellen Thomas, discuss the latest advances in the quest to end the diagnostic odyssey for rare diseases. Hosted by PhenoTips’ Chief Operating Officer Dr. Pawel Buczkowicz. Watch the full episode at https://phenotips.com/speaker-series/advances-in-rare-disease-d...
Nov 01, 2021•1 hr 13 min•Ep. 13
Associate Chief of Genetics and Genomics at Boston Children’s Hospital, Dr. Olaf Bodamer, Director of the Roberts Individualized Medical Genetics Center at the Children’s Hospital of Philadelphia, Dr. Ian Krantz, and Medical Geneticist at the Children’s Hospital of Colorado, Dr. Austin Larson, debate the application of whole genome sequencing in the clinic. Hosted by PhenoTips’ Chief Operating Officer Dr. Pawel Buczkowicz. Watch the full episode at https://phenotips.com/speaker-series/navigating...
Nov 01, 2021•1 hr 17 min•Ep. 14
Chief Clinical Information Officer for Belfast Health and Social Care Trust, Dr. Shane McKee, discusses the role openEHR technology plays in transforming the ways patient care is delivered. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/role-of-openehr-in-transforming-patient-care.html
Nov 01, 2021•1 hr•Ep. 11
Past President of the National Society of Genetic Counselors (NSGC), Amy Sturm, and Past President of the American Board of Genetic Counseling (ABGC), Erynn Gordon, draw on their decades of experience in genetic counseling to prepare genetic counselors for the fast approaching future of genetic counseling. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/the-future-of-genetic-counseling.html...
Nov 01, 2021•1 hr 2 min•Ep. 8
The Director of Genomic Interpretation for Genomics England, Dr. Damian Smedley, presents the role phenotype-aware analysis plays in improving diagnostic outcomes for individuals with rare conditions. Hosted by PhenoTips’ Chief Operating Officer Dr. Pawel Buczkowicz. Watch the full episode at https://phenotips.com/speaker-series/role-of-phenotyping-in-improving-diagnostic-outcomes.html...
Nov 01, 2021•1 hr 2 min•Ep. 10
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
Nov 01, 2021•1 hr 1 min•Ep. 3
A panel of genetic counselors in leadership positions, including Co-Director of the Roberts Individualized Medical Genetics Center at the Children's Hospital of Philadelphia, Livija Medne, leader of the genetic counselling team at Guy’s and St. Thomas’ NHS Foundation Trust, Vishakha Tripathi, and Manager of the Laboratory Stewardship Program at Seattle Children’s Hospital, Jessie Conta, discuss the paths to leadership roles and the benefits of genetic counselors in management positions to all ar...
Nov 01, 2021•1 hr•Ep. 4
Innovation specialist, Principal Genetic Counsellor, and Transformation Manager at Imperial College Healthcare NHS Trust, Demetra Georgiou, draws on her experience in service design and genetic counselling to discuss how genetic departments and staff can improve patient care. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/improving-the-patient-experience.html...
Nov 01, 2021•1 hr 2 min•Ep. 7
Chief of the Division of Medical Genetics at the University of Pittsburgh School of Medicine, Dr. Jerry Vockley, and President and CEO of Rady Children’s Institute for Genomic Medicine, Dr. Stephen Kingsmore, prepare clinicians and researchers for the future of pediatric genetics. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/the-future-of-pediatric-genetics.html...
Nov 01, 2021•1 hr 10 min•Ep. 12
Digital champion, pioneering researcher, and clinical geneticist, Dr. Charles Shaw-Smith, discusses the impact of digital tools on clinical genetics as well as his experience and insights championing the adoption of digital tools. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/digital-tools-in-genetics.html
Nov 01, 2021•59 min•Ep. 6
