Issue #129
October 2022
Targeted carrier testing for severe single-gene conditions recommended for funding

Following an application by the RCPA to the Medical Services Advisory Committee (MSAC), targeted carrier testing for nine severe single-gene conditions has been recommended for public funding via the Medicare Benefits Schedule (MBS). This recommendation has been made by the MSAC to Health Minister, Mark Butler.

Professor Leslie Burnett has been involved in the application. He explains that the addition of these items to the MBS will significantly improve access to targeted carrier testing for individuals who are of reproductive age and who identify as being of Ashkenazi Jewish descent or ancestry.

“This is a very exciting outcome and a huge step towards having this vital testing included on the MBS. It follows some 30 years of dedicated work in which testing for Tay-Sachs disease and similar conditions has been trialled and evaluated, and the evidence shows that offering carrier testing for at-risk individuals is a successful and proven health strategy, benefitting both the individuals at risk, and the broader community.

“Genetic variants (or DNA changes) that can cause severely disabling and/or life-threatening conditions, such as Tay Sachs disease, are much more common in the Ashkenazi Jewish population, compared to the general population.

“The lack of publicly funded genetic testing for these and other similar conditions means that access is currently largely limited to those who can afford to pay for it or those able to access charity-funded testing. The addition of these items to the MBS will greatly assist those families who desperately need it and reduces the future burden on the health system.

“This application was supported by the Wolper Jewish Hospital, members of the Jewish community and an extensive range of ethnic community representatives and interfaith leaders. We are grateful for their support. Our hope is that this development paves the way for future inclusions to the MBS of conditions relevant to other ethnic groups,” said Dr Burnett.

The conditions included in this particular testing are Tay-Sachs disease, Canavan disease, Familial dysautonomia, Mucolipidosis type IV, Glycogen storage disease type 1, Fanconi anaemia type C, Gaucher disease type 1, Niemann Pick disease type A and Bloom syndrome. The test would also detect variants that cause cystic fibrosis, spinal muscular atrophy and fragile-X syndrome, conditions where testing has already been approved for public funding.

“People with Ashkenazi Jewish ancestry have a one in five chance (20%) of being a genetic carrier for at least one of these conditions, which are all severe and cause shortened life expectancy as few, if any, curative treatments are available. Because the conditions are inherited in an autosomal recessive or X-linked recessive way, the chances of having an affected child are one in four (25%) if the parents are carriers. Having a child born with these conditions causes significant burden to affected children and their families, to society and to the healthcare system,” said Prof Burnett.

As part of this application, MSAC also supports MBS items for the testing of reproductive partners of Ashkenazi Jewish people (where the partners are not Ashkenazi Jewish) and for fetal testing for couples who are at risk of having a child affected by one of these conditions.



Back to Home page >>
Lupus awareness month
The potential uses for Artificial Intelligence (A.I.) in pathology
Pathology: opening up a world we cannot see
Subscribe to PathWay
Find out more on the RCPA website
The Royal College of Pathologists of Australasia
Durham Hall - 207 Albion St Surry Hills NSW 2010 AUSTRALIA
Phone: +61 2 8356 5858