Inherited arrhythmia syndrome genetic testing MBS funding a ‘massive win’ for patients – cardiologist


By Michael Woodhead

9 Mar 2021

Prof Chris Semsarian

Genetic testing for the diagnosis of inheritable cardiac arrhythmia syndromes may become Medicare funded by the end of the year, according to the Royal College of Pathologists of Australasia (RCPA).

An application for public funding of testing for conditions such as long QT syndrome has been recommended by the Medical Services Advisory Committee (MSAC), and the College is hoping the listing will be included on the Medicare Benefits Schedule (MBS) by late 2021.

The RCPA’s application was for a new item to cover genetic testing of the following inherited arrhythmia syndromes or channelopathies: long QT syndromes (LQT1-LQT13), Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia and Jervell and Lange-Nielsen syndrome.The item will cover testing for clinically-affected individuals as well as cascade testing in biological relatives of those affected individuals who receive a positive genetic diagnosis.

MSAC also recommended new MBS funding for reproductive partner testing for genes with autosomal recessive inheritance, and for subsequent re-analysis following a negative result of an affected individual if a virtual panel has been used on an exome background.

The listing covers testing a group of at least 20 genes: KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, RYR2, CASQ2, CAV3, SCN4B, AKAP9, SNTA1, KCNJ5, ALG10, CALM1, CALM2, ANK2, TECRL, and TRDN –  that are known to be involved in inherited heart rhythm problems.

Professor Chris Semsarian a cardiologist at Sydney’s Royal Prince Alfred Hospital, and Head, Molecular Cardiology Program, Centenary Institute, said the recommendation was a successful result from a ten year campaign to have genetic testing funded.

“Across the nation we have been struggling to get funding for genetic testing, so this is a massive, massive win for patients. This is a true “game-changer”,” he said.

“This is something that we just wouldn’t have been able to do ten years ago with the technology available. There has been an explosion in our genetic sequencing technologies, such that we can now test hundreds or thousands of genes very quickly, relatively cheaply to find out the genetic cause of disease.”

Professor Semsarian said access to genetic testing would allow cardiologists to clarify diagnosis and individualise treatment.

For example, long QT syndrome, had several different subtypes, which may require different medications and prevention strategies, he noted

Most arrhythmia syndromes are inherited in an autosomal dominant manner, meaning that first-degree family members such as siblings and children have a 50% chance of inheriting the disease gene abnormality. Cascade testing is therefore offered to family members, where appropriate.

“Cascade testing allows people to make more informed health and family planning decisions. If genetic variants are found in family members, they can be monitored or start treatment earlier, such as beta blockers, or (in more severe cases) the insertion of a defibrillator, which could save their life,” said Professor Semsarian.

“Family members who do not have the genetic variant do not need to be monitored or treated which means this testing is also cost-effective for the health system.

“In addition, people with some gene variants who are planning on having children can potentially consider pre-implantation genetic diagnosis to eliminate the disease gene variant from future offspring,” said Prof Semsarian.

In patients tested for these disease genes where no causative gene variant is identified (so-called “gene elusive” patients), the opportunity arises for research efforts to find novel disease genes.

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