4 years' cascade genetic testing for familial hypercholesterolaemia in England – Increased referrals and ascertainment

Nurse-led cascade screening for FH: filling in the gaps

“…Since the FH nurse-led services came into being, cascade testing referrals at one genetic laboratory in England have increased by approximately 400%, and 70% of these referrals were via PASS (Hills et al, 2016). Integrated use of PASS by FH services and laboratories has also proven worthwhile in terms of reducing unnecessary duplication of Index case tests (first individual tested in each family) across services.…”

“…Integrated use of PASS by FH services and laboratories has also proven worthwhile in terms of reducing unnecessary duplication of Index case tests (first individual tested in each family) across services. This provides significant savings for the NHS, as Index tests cost approximately three times more than the targeted cascade relative's test (Hills et al, 2016 The most common genetic cause of premature coronary heart disease is familial hypercholesterolaemia. In this comment, Lisa Gritzmacher shares her experience of a nurse-led cascade screening service for this inherited condition, identifying the benefits of such services, as well as gaps that remain across the country and that need attention Comment age 10 in families with FH, which is where genetic screening can make the most difference to morbidity and mortality resulting from this inherited condition.…”