24 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. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman on Population Genomics in Clinical Practice

    Dr. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman on Population Genomics in Clinical Practice

    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.

    • 1 hr 15 min
    Dr. Jehannine Austin, Andy Cantor, Josephine Giblin, and Katie Gallagher on Navigating Barriers in LGBTQ+ Genetic Care

    Dr. Jehannine Austin, Andy Cantor, Josephine Giblin, and Katie Gallagher on Navigating Barriers in LGBTQ+ Genetic Care

    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.

    • 1 hr 2 min
    Dr. Kym Boycott on Solving the Unsolvable with Care4Rare

    Dr. Kym Boycott on Solving the Unsolvable with Care4Rare

    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.

    • 59 min
    Vishakha Triphathi, Erin Wadman, and Brittney Johnstone on Burnout in Genetic Counseling

    Vishakha Triphathi, Erin Wadman, and Brittney Johnstone on Burnout in Genetic Counseling

    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.

    • 1 hr
    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

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