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PhenoTips Speaker Series: A Genetics Podcast: Daily Summaries Delivered
by PhenoTips
PhenoTips and DNA Today's Kira Dineen host thought leaders and experts in the field of genetics and genomics to discuss cutting-edge technologies, techniques, best practices, and emerging disciplines in genetic counseling, clinical genetics, and bioinformatics. Learn more at https://phenotips.com/speaker-series.html
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- Sep 23, 202658 min
University Hospitals of Leicester NHS Trust on Patient Engagement with PhenoTips
A presentation and discussion with genetic counsellors and digital champions from the Leicestershire, Northamptonshire and Rutland Genomic Medicine service. Pilot project co-lead Anna Hemsley presents the results of family history intake digitisation, and Lead Genetic Counsellor Vicki Kiesel joins for a discussion and interactive Q&A. Hosted by Kira Dineen.During the presentation and discussion, Anna Hemsley and Vicki Kiesel address:Pre-digitisation workflows for family history collection and their impactsMethods, results, and challenges of family history intake digitisationBest practices for implementing departmental changeThe benefits of digital family history questionnaires to patients and staff
- Jun 24, 20261h 1m
Kayla Horowitz, Darius Haghighat, and Marissa Adams on Intersex Affirming Genetic Care
A panel discussion and interactive Q&A with international genetic counsellors, researchers, and advocates for safe and affirming intersex genetic care. Hosted by Kira Dineen.Kayla Horowitz, Darius Haghighat, and Marissa Adams discuss:The role of genetic professionals in intersex healthcareConsiderations for safe and affirming genetic care for intersex individualsEducational gaps in genetic counseling and how to address themThe role of genetic professionals in intersex advocacy and educationAdditional resources and further reading:Toward affirmative intersex health communication in CanadaInternational Intersex Groups DirectoryEvolving language reflects evolving understanding: updated terms for anatomical description in i/VSC/DSDIntersex Resources for Medical StudentsLearning Resources – Intersex HealthIntersex BrochuresIntersex MemoirsIntersection DocumentaryEvery Body filmHans – Intersex Youtuber
- Apr 22, 20261h 0m
Dr. Colleen Campbell, Megan Trinkle-Knotts, and Andrea Spencer on Building Business Cases for Genomics
A panel discussion and interactive Q & A with genetic counseling directors, healthcare consultants, and business case experts. Hosted by Kira Dineen.Dr. Colleen Campbell, Megan Trinkle-Knotts, and Andrea Spencer discuss:Where to begin: connections and resources to get startedHow to craft compelling narrativesThe numbers behind the story: backing up cases with dataBest practices for building strong business casesResources:NSGC Cancer Genetics Business Case ToolkitAn Introduction to the Genetic Counseling Business Case Experience: Learnings from NSGC’s First Business Case Summit
- Feb 28, 20261h 2m
Dr. Nara Sobreira, Matthew Osmond, and Dr. Orion Buske on Matchmaking for Rare Disease Diagnosis
A panel discussion and interactive Q & A with the strategists, developers, and researchers behind patient matchmaking initiatives. Hosted by Kira Dineen.Dr. Nara Sobreira, Matthew Osmond, and Dr. Orion Buske discuss:Patient matchmaking as a driver of diagnosisThe technology, interoperability, and structured data powering matchmaking platformsThe future of matchmaking and international collaborationLearn more about the Variant Level Matching Network.Learn more about the Matchmaker Exchange.
- Sep 29, 20251h 0m
Dr. Eric Green, Dr. Colleen Campbell, Brian Reys, and Marianne Olson on Proving Profitability in Genomics
A panel discussion and interactive Q & A with thought leaders in genomics and genetics revenue researchers and advocates. Hosted by Kira Dineen, Dr. Colleen Campbell, Dr. Eric Green, Brian Reys, and Marianne Olson discuss:Demonstrating the direct and downstream benefits of multiple genetic subspecialtiesNavigating the challenges of funding and reimbursement in light of evolving billing codesHow to build strong business cases
- Jun 26, 20251h 1m
Kimberly Zayhowski, Diane Koeller, and Josephine Giblin on Gender Affirming Cancer Genetic Counseling
An international panel of cancer genetic counselors with research and advocacy interests in LGBTQ+ affirming care, NHS Bristol’s Josephine Giblin, Dana-Farber Cancer Institute’s Diane Koeller, and Boston University School of Medicine’s Kimberly Zayhowski, discuss:Risk considerations for trans and gender diverse cancer genetic counseling patientsCreating safe and inclusive environments in cancer genetic counselingProtecting patients during times of unprecedented legislationResources and methods to support trans and gender diverse patientsHosted by DNA Today's Kira Dineen.Resources and further reading:Navigating sexual orientation and gender identity data privacy concerns in United States genetics practicesNSGC Policy Statement: Distinguishing Sex and Gender to Reduce HarmTGD CanScreen ProjectCanadian Resource: Queering CancerCoppaFeel: UK patient resource with gender based language selection
- Apr 23, 20251h 0m
Genetic Counseling with PhenoTips Pedigree Software, with Erica Peacock and Ariel Modeste
Erica Peacock, PhenoTips' in-house genetic counselor and Genetics Workflow Consultant, demonstrates the practical application of PhenoTips' pedigree software in a mock genetic counseling session featuring genetic counseling student, Ariel Modeste, as the "Patient". Following the mock genetic counseling session, DNA Today's Kira Dineen moderates and guides an audience Q&A addressing various aspects of PhenoTips' pedigree software.Throughout the mock session and following discussion, Kira, Ariel, and Erica address:How the pedigree builder is used in genetic counseling practiceThe pedigree builder’s relationship to patient & family recordsCommonly asked questions about the pedigree builder considerationsTips & tricks for using the pedigree builder
- Feb 27, 202557 min
Helene Cederroth, Dr. Wendy van Zelst-Stams, Dr. Angelica Delgado Vega, and Dr. Eric Klee on Driving Diagnosis Through Global Collaboration with the Undiagnosed Hackathon
Rare disease researchers and advocates, past and future organizers of the Undiagnosed Hackathon initiative, Helene Cederroth, Dr. Wendy van Zelst-Stams, Dr. Angelica Delgado Vega, Dr. Eric Klee, and Dr. Orion Buske, discuss the innovative annual Undiagnosed Hackathon events.The international panel discuss:International barriers to rare disease diagnosisGlobal collaboration as a method to drive diagnosisDriving principals, goals, and outcomes of the Undiagnosed HackathonsResources, methods, and technologies to facilitate collaborative diagnosis
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About PhenoTips Speaker Series: A Genetics Podcast
PhenoTips and DNA Today's Kira Dineen host thought leaders and experts in the field of genetics and genomics to discuss cutting-edge technologies, techniques, best practices, and emerging disciplines in genetic counseling, clinical genetics, and bioinformatics. Learn more at https://phenotips.com/speaker-series.html
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