PhenoTips Speaker Series: A Genetics Podcast

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 impacts
• Methods, results, and challenges of family history intake digitisation
• Best practices for implementing departmental change
• The benefits of digital family history questionnaires to patients and staff

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 healthcare
• Considerations for safe and affirming genetic care for intersex individuals
• Educational gaps in genetic counseling and how to address them
• The role of genetic professionals in intersex advocacy and education

Additional resources and further reading:

• Toward affirmative intersex health communication in Canada
• International Intersex Groups Directory
• Evolving language reflects evolving understanding: updated terms for anatomical description in i/VSC/DSD
• Intersex Resources for Medical Students
• Learning Resources – Intersex Health
• Intersex Brochures
• Intersex Memoirs
• Intersection Documentary
• Every Body film
• Hans – Intersex Youtuber

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:

1. Where to begin: connections and resources to get started
2. How to craft compelling narratives
3. The numbers behind the story: backing up cases with data
4. Best practices for building strong business cases

Resources:

• NSGC Cancer Genetics Business Case Toolkit
• An Introduction to the Genetic Counseling Business Case Experience: Learnings from NSGC’s First Business Case Summit

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:

1. Patient matchmaking as a driver of diagnosis
2. The technology, interoperability, and structured data powering matchmaking platforms
3. The future of matchmaking and international collaboration

Learn more about the Variant Level Matching Network.

Learn more about the Matchmaker Exchange.

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 subspecialties
• Navigating the challenges of funding and reimbursement in light of evolving billing codes
• How to build strong business cases

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 patients
• Creating safe and inclusive environments in cancer genetic counseling
• Protecting patients during times of unprecedented legislation
• Resources and methods to support trans and gender diverse patients

Hosted by DNA Today's Kira Dineen.

Resources and further reading:

• Navigating sexual orientation and gender identity data privacy concerns in United States genetics practices
• NSGC Policy Statement: Distinguishing Sex and Gender to Reduce Harm
• TGD CanScreen Project
• Canadian Resource: Queering Cancer
• CoppaFeel: UK patient resource with gender based language selection

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 practice
• The pedigree builder’s relationship to patient & family records
• Commonly asked questions about the pedigree builder considerations
• Tips & tricks for using the pedigree builder

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 diagnosis
• Global collaboration as a method to drive diagnosis
• Driving principals, goals, and outcomes of the Undiagnosed Hackathons
• Resources, methods, and technologies to facilitate collaborative diagnosis

2024 recipient of the Natalie Weissberger Paul National Achievement Award from the NSGC, Laura Hercher, Associate Director of Genetic Counseling at the Dana-Farber Cancer Institute, Jill Stopfer, and Innovation Specialist and Chair of the British Society for Genetic Medicine, Demetra Georgiou, discuss the changing roles genetic counselors will play as genomics goes mainstream.

The international panel of genetic counselors discusses:

• Visions for genomic mainstreaming
• Changing roles of genetic counselors under mainstreaming
• Past, present, and future barriers to genomic mainstreaming
• Examples of current genomic integrations

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.