#23- Building Systems for Genetic Care: PRS Implementation and EDS Triage

Today we are featuring two articles that relate to moving genetics into mainstream healthcare. In our first segment, we discuss polygenic risk scores and the transition from research to clinical use. Our second segment focuses on hypermobility Ehlers Danlos Syndrome and the triaging of clinical referrals. 

 

Segment 1: Readiness and leadership for the implementation of polygenic risk scores: Genetic healthcare providers' perspectives in the hereditary cancer context

 

Dr Rebecca Purvis is a post-doctoral researcher, genetic counsellor, and university lecturer and coordinator at The Peter MacCallum Cancer Centre and The University of Melbourne, Melbourne, Australia. Dr Purvis focuses on health services delivery, using implementation science to design and evaluate interventions in clinical genomics, risk assessment, and cancer prevention.

 

In this segment we discuss:

- Why leadership and organizational readiness are critical to successful clinical implementation of polygenic risk scores (PRS).

- How genetic counselors’ communication skills position them as key leaders as PRS moves from research into practice.

- Readiness factors healthcare systems should assess, including culture, resources, and implementation infrastructure.

- Equity, standardization, and implementation science as essential tools for responsible and sustainable PRS adoption.

Segment 2: A qualitative investigation of Ehlers-Danlos syndrome genetics triage

 

Kaycee Carbone is  a genetic counselor at Boston Children's Hospital in the Division of Genetics and Genomics as well as the Vascular Anomalies Center. Her clinical interests include connective tissue disorders, overgrowth conditions, and somatic and germline vascular anomaly conditions. She completed my M.S. in Genetic Counseling at the MGH Institute of Health Professions in 2023. The work she discusses here, "A qualitative investigation of Ehlers-Danlos syndrome genetics triage," was completed as part of a requirement for this graduate program. 

 

In this segment we discuss:

- Why genetics clinics vary widely in how they triage referrals for hypermobile Ehlers-Danlos syndrome (hEDS).

- How rising awareness of hEDS has increased referral volume without clear guidelines for diagnosis and care.

- The ethical and emotional challenges genetic counselors face when declining hEDS referrals.

- The need for national guidelines and clearer care pathways to improve access and coordination for EDS patients.

Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.

 

Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. 

 

For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. 

 

Any questions, episode ideas, guest pitches, or comments can be sent into [email protected]. 

 

DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’s Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Stephanie Schofield.