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 ..read more

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 ..read more

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 ..read more

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 three cases solved by Care4Rare after facing 10+ years long diagnostic odysseys ..read more

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. Hosted by DNA Today's Kira Dineen ..read more

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 ..read more

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 improve the accessibility of genetic counseling services in hereditary cancer genetic counseling ..read more

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 DNA Today's Kira Dineen ..read more

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 improve the accessibility of genetic counseling services in hereditary cancer genetic counseling ..read more

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 clinical genetics. Hosted by DNA Today's Kira Dineen ..read more