Genetic testing for a dozen severe and life-limiting conditions is now available under Medicare.
Genetic carrier tests for 12 conditions are now MBS funded for people of reproductive age who are of Ashkenazi Jewish descent and their partners.  Â
Around 100,000 Australians identify as Jewish, the majority of whom are Ashkenazi Jewish, and these patients have a 20% chance of carrying genes for at least one of these severe, life-shortening disorders.
Item 73453 covers the test for the genetic markers for:
- Tay-Sachs disease
- Bloom syndrome
- Canavan disease
- Familial dysautonomia
- Fanconi anaemia type C
- Gaucher disease
- Glycogen storage disease type I
- Mucolipidosis type IV
- Niemann-Pick disease type A 7
- Spinal muscular atrophy
- Cystic fibrosis
- Fragile-X syndrome
It looks for variants in these genes: ASPA, BLM, CFTR, ELP1, FANCA, FANCC, FANCG, FMR1, G6PC1, GBA1, HEXA, SLC37A4, SMN1 and SMPD1.
If at least one prospective parent is a known carrier, the fetus has a 25% increased risk of inheriting the condition.
A positive result for any variant makes the patient’s partner eligible for whole gene sequencing with item 73454 to determine the couple’s combined risk for the fetus inheriting one of those conditions.
The exception is for a positive result for cystic fibrosis, fragile X syndrome or spinal muscular atrophy, which are covered by different MBS items.
The third PBS approval, item 73455, covers a test on the pregnant person to determine whether the variant is present in the fetus. This test must be requested by a specialist.
Without the government subsidy, the full costs of the tests are $425, $1200 and $1600, respectively.
“The addition of these items follows over 30 years of dedicated work in which testing for Tay-Sachs disease and similar conditions has been trialled and evaluated,” said Associate Professor Trishe Leong, president of the Royal College of Pathologists of Australasia (RCPA).
“Carrier screening can be performed from a small blood sample, similar to any other pathology test. If a person is found to be a carrier of one or more of the conditions, their result will be issued to a genetic counsellor who will contact their doctor to discuss the result.
Professor Leong said that a positive result should prompt testing of the reproductive partner to clarify the risks of having a child with that condition.
“As part of the addition, testing is also available for reproductive partners of Ashkenazi Jewish people (where the partners are not Ashkenazi Jewish), along with fetal testing for couples who are at risk of having a child affected by one of these conditions.”
