Demystifying Genetics with Sibel Saya

Demystifying Genetics

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

Chapter

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)