PhenoTips Speaker Series: A Genetics Podcast
25 episodes - English - Latest episode: 7 months ago - ★★★★★ - 1 ratingPhenoTips 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
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Episodes
Dr. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman on Population Genomics in Clinical Practice
September 29, 2023 14:00 - 1 hour - 103 MBInternational 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.
Dr. Jehannine Austin, Andy Cantor, Josephine Giblin, and Katie Gallagher on Navigating Barriers in LGBTQ+ Genetic Care
June 19, 2023 14:00 - 1 hour - 57.4 MBInternational 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.
Dr. Kym Boycott on Solving the Unsolvable with Care4Rare
March 08, 2023 14:00 - 59 minutes - 82.2 MBTier 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...
Vishakha Triphathi, Erin Wadman, and Brittney Johnstone on Burnout in Genetic Counseling
December 21, 2022 14:00 - 1 hour - 82.9 MBGenetic 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.
Dr. Orion Buske and PhenoTips Experts on Building Integrated Workflows for Rare Disease Diagnosis
October 11, 2022 14:00 - 59 minutes - 54.5 MBLeader 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. H...
Joanna Mercado, Holden Bender-Bernstein, and Marney Brillinger on Gender Affirming Care in Genetic Counseling
July 11, 2022 14:00 - 1 hour - 75.8 MBTransgender 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.
Dr. Loren Peña, Dr. Austin Larson, and Dr. Amanda Barone Pritchard on Improving the Diagnostic Yield in Pediatric Genetics
April 11, 2022 14:00 - 1 hour - 67.5 MBClinical 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 ...
Jill Stopfer, Jessica Corredor, and Emily Nazar on the Future of Hereditary Cancer Genetic Counseling
April 11, 2022 14:00 - 1 hour - 68.8 MBAssociate 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...
Dr. Ian Campbell, Dr. Bimal Chaudhari, and Dr. Ajith Kumar on Improving Patient Experiences in Clinical Genetics
February 24, 2022 14:00 - 1 hour - 70 MBClinical 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 car...
Children's Mercy on Ending Diagnostic Odysseys
January 26, 2022 14:00 - 59 minutes - 54.8 MBClinical/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...
Dr. Banu Arun and Dr. Mark Robson on the Future of Cancer Genetics
December 13, 2021 08:00 - 1 hour - 62.9 MBCo-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-genet...
Dr. Charles Shaw-Smith on the Adoption and Outcome of Digital Tools in Clinical Genetics
November 01, 2021 14:00 - 59 minutes - 54.1 MBDigital 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
Amy Sturm and Erynn Gordon on the Future of Genetic Counseling
November 01, 2021 14:00 - 1 hour - 56.5 MBPast 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
Dr. Marshall Summar, Dr. Stephen Kingsmore, and Dr. Ellen Thomas on Advances in Rare Disease Diagnosis
November 01, 2021 14:00 - 1 hour - 67.1 MBDirector 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-disea...
Dr. Olaf Bodamer, Dr. Ian Krantz, and Dr. Austin Larson on Navigating Whole Genome Sequencing in the Clinic
November 01, 2021 14:00 - 1 hour - 71 MBAssociate 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/naviga...
Dr. Damian Smedley on the Role of Phenotyping in Improving Diagnostic Outcomes
November 01, 2021 14:00 - 1 hour - 56.3 MBThe 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
Dr. Shane McKee on the Role of OpenEHR in Transforming Patient Care
November 01, 2021 14:00 - 1 hour - 55.1 MBChief 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
Elizabeth Turner on Adapting to Virtual Care in Genetic Counseling
November 01, 2021 14:00 - 41 minutes - 37.8 MBCEO and co-founder of Advanced Tele-Genetic Counseling, Elizabeth Turner, draws on personal experience to offer guidance to genetic counselors who are adapting to virtual care during the COVID-19 pandemic. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/adapting-to-virtual-care.html
Ellen Matloff on the Evolving Role of Genetic Counselors in Precision Medicine
November 01, 2021 14:00 - 1 hour - 57.2 MBCEO 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
Demetra Georgiou on Improving the Patient Experience
November 01, 2021 14:00 - 1 hour - 56.3 MBInnovation 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
Livija Medne, Jessie Conta, and Vishakha Tripathi on Genetic Counselors in Leadership Roles
November 01, 2021 14:00 - 59 minutes - 54.5 MBA 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 al...
Scott Weissman, Dr. Amy Taylor, and Andrew McCarty on the Adoption and Impact of Digital Tools in Genetic Counseling
November 01, 2021 14:00 - 1 hour - 55 MBA panel of genetic counselors and digital champions, including NSGC Digital Ambassador, Scott Weissman, Lead Consultant Genetic Counsellor at Cambridge University Hospitals NHS Foundation Trust, Dr. Amy Taylor, and Laboratory Genetic Counselor at Perkin Elmer Genomics, Andrew McCarty, discuss the impact of digital tools on their departments as well as their experience and insights championing the adoption of digital tools. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://...
Dr. Peter Robinson on the Importance of Deep Phenotyping in Precision Medicine
November 01, 2021 14:00 - 1 hour - 56 MBPrecision 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
Dr. Jerry Vockley and Dr. Stephen Kingsmore on the Future of Pediatric Genetics
November 01, 2021 14:00 - 1 hour - 63.7 MBChief 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
Dr. John McDermott on Integrating Genomics into Routine Clinical Practice
November 01, 2021 14:00 - 1 hour - 57.7 MBThe UK’s first Academic Clinical Fellow in Genomic Medicine, Dr. John McDermott, presents the benefits, potential roadblocks, and solutions required to transition genomics into routine clinical practice. Hosted by PhenoTips’ Chief Operating Officer Dr. Pawel Buczkowicz. Watch the full episode at https://phenotips.com/speaker-series/integrating-genomics-into-routine-clinical-practice.html