Beyond BRCA: Bringing Polygenic Risk into Primary Care. Demystifying Genetics with Sibel Saya

Demystifying Genetics

Dr. Matt Burgess interviews genetic counsellor and researcher Dr. Sibel Saya about integrating genetic testing into primary healthcare settings, focusing on polygenic risk scores as a tool for personalizing cancer screening.
• Genetic counselling principles applied in primary care settings rather than just specialist clinics
• Polygenic risk scores differ from traditional genetic tests by analyzing hundreds of common variants with small individual effects
• Australia and New Zealand have the highest bowel cancer rates globally, making early detection tools particularly important
• Tools like CRISP help assess individual bowel cancer risk using lifestyle factors combined with genetic information
• Cultural differences must be considered when implementing genetic testing in diverse communities
• GPs see genetic risk assessment as within their scope despite time constraints
• Risk information alone doesn't change behaviour – it's the opportunity to discuss screening that matters
• Implementation research happening alongside efficacy trials to speed translation into practice
• Stratified screening approaches could be widely available within 5-10 years
If you'd like to learn more about polygenic risk scores or risk-stratified cancer screening, visit our website or subscribe to Demystifying Genetics for future episodes on these topics.

Support the show

Demystifying Genetics is sponsored by TrakGene
https://www.trakgene.com/

Chapters

1. Introduction to Demystifying Genetics (00:00:00)

2. Personal Journey of a Genetic Counsellor (00:03:35)

3. Working in Genetics Abroad (00:10:29)

4. Genetics in Primary Healthcare (00:18:30)

5. Understanding Polygenic Risk Scores (00:29:16)

6. Cancer Risk Assessment Tools (00:38:45)

7. Implementing Risk-Stratified Cancer Screening (00:47:14)

8. Behavior Change vs Medical Interventions (00:59:24)

9. GPs' Role in Genetic Testing (01:10:19)