March 10, 2025

Demystifying Genetics with Sibel Saya

43 minutes

Send us a text

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/

...more

View all episodes

By Matt Burgess

44 ratings