MBS items are now available for Familial Hypercholesterolemia (FH) genetic testing of affected individuals and cascade testing of their first and second degree relatives.

The move is likely to help lipid clinics identify the many asymptomatic family members with FH who will benefit from early initiation of lipid lowering therapy, according to atherosclerosis specialists.

“The listing of these items enables earlier identifications of at-risk individuals with the aim of decreasing the risk of cardiovascular events, including myocardial infarction, unstable angina requiring hospitalisation, coronary revascularisation, stroke, transient ischaemic attack and hospitalisation for heart failure,” said Associate Professor David Sullivan, Head of Chemical Pathology at Royal Prince Alfred Hospital, Sydney.

Genetic tests identify the three “star performer” genes (LDLR, PCSK9 and APOB) that are associated with more than 90% of affected individuals with FH. About 50% of close relatives of people with FH also have the condition. And once a family member is identified with FH, they can be treated with statins and PCSK9 inhibitors, said Dr Sullivan.

The new MBS items, available from 1 May, allow for genetic testing of individuals with FH who meet criteria such as having a Dutch Lipid Clinic Network Score of at least 6; LDL cholesterol level of at least 6.5 mmol/L in the absence of secondary causes or an LDL cholesterol level between 5.0-6.5 mmol/L with signs of premature/accelerated atherogenesis.

If positive, the individual’s first and second degree family members are also  eligible for genetic testing for FH genes, after undergoing genetic counselling.

The MBS rebate was added in response to an application by the Royal College of Pathologists of Australasia (RCPA) to the Medical Services Advisory Committee (MSAC).

In recommending the reimbursement, MSAC noted that currently about 65,000 people in Australia have FH, but most are undiagnosed and only about 400 people undergo cascade testing each year.

It noted that all of the benefits of genetic testing for FH would come from cascade testing in first-degree and second-degree relatives, “as a positive result could result in early uptake of lipid-lowering treatments, and thus reduce the risk of cardiovascular events in this group of patients.”

Currently, for someone in whom the family genetic pattern is unknown, the cost of this test would be around AU$1,200.

The MBS listing restricts genetic testing of individuals with FH to specialists, but GPs may be involved in order cascade testing of family members. On recommending the MBS lsisting, MSAC also expressed concern that there may be leakage due to speculative use of the test to access anti-PCSK9 therapy on the PBS, for statin-intolerant patients.