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