Implementing diagnostic genetic testing for familial hypercholesterolaemia in primary care: qualitative study

Familial Hypercholesterolaemia (FH) is a common inherited cause of raised cholesterol, affecting an estimated 120,000 people in the UK. When left untreated it can lead to heart attacks in affected individual as young as 30-40 years old. This can be prevented by simply starting lipid-lowering treatment early in life. However over 80% of individuals with this inherited condition are still not identified in the UK leading to much avoidable premature coronary heart disease and death. The most accurate way to confirm if the cause of raised cholesterol is inherited is by genetic testing. Currently, genetic testing is carried out after specialist referral.

If genetic testing for FH was offered by general practitioners it could reduce unnecessary referrals but it is unclear if the introduction of this test in primary care would be acceptable and possible to setup. We will ask general practitioners, practice nurses and patients (who have been referred to specialist for formal diagnosis of FH) their views on whether genetic testing, to confirm diagnosis of FH, should be offered in primary care. Also they will be asked how this information should be given in general practice.