Afleveringen
-
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 into the complexities of rare diseases, exploring real-world insights from passionate industry leaders. Together, we navigate the unknowns and unlock the potential for groundbreaking treatments. Because in this journey, we’re all rare, sharing unique insights and experiences that drive innovation and progress. Learn more by searching for "Rare Insights" wherever you get your podcasts.
-
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.
-
Zijn er afleveringen die ontbreken?
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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.
-
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://phenotips.com/speaker-series/childrens-mercy-ending-diagnostic-odysseys.html
-
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.html
-
A 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://phenotips.com/speaker-series/adoption-of-digital-tools.htm
-
The 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
-
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
-
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
-
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
- Laat meer zien
