Condition Genetic testing offered Screening offered Intervention offered Annual risk (%/yr) Comment Annual risk (%/yr) Comment Annual risk (%/yr) Comment MI/Ischaemic stroke in Hypercholesterolaemia [2] >1 Offer risk Assessment >1 Offer risk assessment >1 Offer 20mg atorvastatin MI/Ischaemic Strokein Hypertension [3,4] - Risk assessment offered to all - Offer to all to check BP at least every 5 years >2 Offer anti-hypertensive Sudden death in Hypertrophic cardiomyopathy [5-7] - Supplements clinical diagnosis - Not recommended >3 ICD/Pacemaker Berry aneurysmpresencein polycystic kidney disease [8-10] - Not offered, clinical diagnosis >1.1 Screen for presence 0.9-9.6 Repair when procedure mortality < rupture mortality Down’s syndrome in Pregnancy [11,12] - Integrated test offered to all - Ultrasound scan offered to all 1/150 Screen positive result for amniocentesis Familial breast cancer [13,14] 10 Combined BRCA1/BRCA2 mutation probability >1.2 MRI surveillance offered to patients at high risk of breast cancer >1.2 Offer risk reducing mastectomy to high risk patients

Table 1: Annual risks above which genetic testing, screening or inventions are offered in six common scenarios.