21 episodes

PhenoTips hosts thought leaders and experts in the field of genetics and genomics to discuss cutting-edge technologies, techniques, and emerging disciplines in genetic counseling, clinical genetics, and bioinformatics. Learn more at https://phenotips.com/speaker-series.html

PhenoTips Speaker Series: A Genetics Podcast PhenoTips

    • Science

PhenoTips hosts thought leaders and experts in the field of genetics and genomics to discuss cutting-edge technologies, techniques, and emerging disciplines in genetic counseling, clinical genetics, and bioinformatics. Learn more at https://phenotips.com/speaker-series.html

    Dr. Orion Buske and PhenoTips Experts on Building Integrated Workflows for Rare Disease Diagnosis

    Dr. Orion Buske and PhenoTips Experts on Building Integrated Workflows for Rare Disease Diagnosis

    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.

    • 59 min
    Joanna Mercado, Holden Bender-Bernstein, and Marney Brillinger on Gender Affirming Care in Genetic Counseling

    Joanna Mercado, Holden Bender-Bernstein, and Marney Brillinger on Gender Affirming Care in Genetic Counseling

    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.

    • 1 hr 22 min
    Dr. Loren Peña, Dr. Austin Larson, and Dr. Amanda Barone Pritchard on Improving the Diagnostic Yield in Pediatric Genetics

    Dr. Loren Peña, Dr. Austin Larson, and Dr. Amanda Barone Pritchard on Improving the Diagnostic Yield in Pediatric Genetics

    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.

    • 1 hr 13 min
    Jill Stopfer, Jessica Corredor, and Emily Nazar on the Future of Hereditary Cancer Genetic Counseling

    Jill Stopfer, Jessica Corredor, and Emily Nazar on the Future of Hereditary Cancer Genetic Counseling

    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. Hosted by DNA Today's Kira Dineen.

    • 1 hr 15 min
    Dr. Ian Campbell, Dr. Bimal Chaudhari, and Dr. Ajith Kumar on Improving Patient Experiences in Clinical Genetics

    Dr. Ian Campbell, Dr. Bimal Chaudhari, and Dr. Ajith Kumar on Improving Patient Experiences in Clinical Genetics

    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.

    • 1 hr 16 min
    Children's Mercy on Ending Diagnostic Odysseys

    Children's Mercy on Ending Diagnostic Odysseys

    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 and Medical Affairs. Watch the full presentation at https://phenotips.com/speaker-series/childrens-mercy-ending-diagnostic-odysseys.html

    • 59 min

Top Podcasts In Science

Alie Ward
Hidden Brain
Freakonomics Radio + Stitcher
Neil deGrasse Tyson
Sam Harris
CBC Radio