This month, genetic testing for heritable mutations associated with Familial Hypercholesterolemia (FH) was added to the Medicare Benefits Schedule (MBS) following an application by the RCPA to the Medical Services Advisory Committee (MSAC). We spoke to NSW Health Pathology’s Associate Professor David Sullivan, Head of Chemical Pathology, Royal Prince Alfred Hospital to discuss how this change will benefit patients.

“As a result of this change, in certain clinical situations, patients with probable or definite FH will be referred for MBS-reimbursed genetic assessment. If a pathological genetic change is detected, cascade screening of close family members will also be available. Diagnostic testing for FH is a complicated and expensive test which analyses over 1,000 possible changes, to identify the gene pattern causing high cholesterol in the family.

“At-risk individuals who are identified through genetic testing, and treated early, will likely decrease their risk of a cardiovascular event. Currently, for someone in whom the family genetic pattern is unknown, the cost of this test would be around AU$1,200,” said A/Prof Sullivan.

FH is a relatively common genetic disorder which affects at least 1 in 500 people^[1]. Around 50% of family members of those diagnosed are likely to also have the condition. Detection early in life allows those individuals to make lifestyle changes and also seek drug therapy in order to lower their blood cholesterol, thereby preventing or reducing the severity of cardiovascular disease. The other 50% of family members will be reassured that they don’t have the inherited condition.

“FH severely reduces the body’s ability to remove low density lipoprotein (LDL) cholesterol from the blood, resulting in high levels of LDL cholesterol, which can form plaques known as ‘atheroma’ on the arteries of the cardiovascular system. The listing of these items enables earlier identification 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 A/Prof Sullivan.

Although untreated (severe) FH can become clinically evident in adulthood, the disorder can be more difficult to identify at a younger age because cholesterol deposits in body tissues take time to develop. In Australia, it is estimated that at least 65,000 people have FH, with the vast majority of them being undiagnosed and/or inadequately treated.^[2] Many of those who do receive treatment have not been diagnosed with FH, so the familial implications may not have been recognised.

“Once a patient is diagnosed, the condition is actually very treatable. The routine cholesterol lowering treatments, such as statins and intestinal cholesterol absorption inhibitors, all work very well. These are now supported by exciting new biological treatments which are very effective. The first family of these treatments to be approved is called the PCSK9 inhibitors, such as evolocumab and alirocumab.

“The RCPA strongly supports this new MBS change and we expect to identify an increased number of individuals affected by these heritable gene mutations, in order to manage their treatments effectively, advise on preventative measures and ultimately save more lives,” said A/Prof Sullivan.

References:

[1] Watts GF, Shaw JE, Pang J, et al. Prevalence and treatment of familial hypercholesterolaemia in Australian communities. Int J Cardiol. 2015;185:69-71

[2] Bellgard MI, Walker CE, Napier KR, et al. Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration. J Atheroscler Thromb. 2017;24(10):1075-1084.