Gene screen rebate ‘just the tip of one iceberg’

5 minute read

While the new Medicare subsidy will help identify three significant conditions, many others could easily and effectively be screened the same way.

Genetic experts have cautiously welcomed a new Medicare rebate that supports genetic screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome – but they agree more can be done to help screen for other genetic conditions. 

The federal government says the new rebate, which took effect on 1 November, will benefit an estimated 85,000 people each year. It is estimated that about one in 20 people are carriers of one of more of these conditions. 

The new item means women who are pregnant or are planning a pregnancy, as well as their reproductive partners, can take a blood, saliva or cheek swab sample to determine their risk. 

Through Medicare, each parent will receive a rebate of between $300-$340 for the test, depending on whether they are treated in or out of hospital. 

Unlike most other genetic tests funded by Medicare, which require patients to satisfy certain clinical or family history criteria, the new rebates will be available to everyone, even with no symptoms or family history. 

Monash IVF medical director of genetics, Dr Tristan Hardy, said the rebate was expected to lead to more people undergoing genetic carrier screening, which the Royal Australian and New Zealand College of Obstetricians and Gynaecologists recommends should be offered to all individuals planning pregnancy or in the early stages of pregnancy. 

“This is an important and progressive reproductive health measure that genetic experts and families with children affected by these conditions have long been calling for,” Dr Hardy said. 

“Most of us are a carrier of one or more genetic conditions, but few people know this before they embark on parenthood and only find out after they’ve had a baby with a serious condition. 

“Knowing that you and your reproductive partner have a higher chance of having a child with a genetic condition allows you to plan ahead and make informed decisions.” 

However, Dr Hardy, a dual-trained obstetrician-gynaecologist and genetic pathologist, said the rebate would not cover expanded carrier screening, which is considered to be the gold standard in preconception genetic testing. 

“While there are many different types of screening tests in pregnancy, it is such an important step that we have taken to support carrier screening,” he said. 

“However, the three conditions chosen are just the tip of one iceberg. There are so many other conditions that are easily and effectively screened in the same way, and we could have five times the impact on childhood health if we went just a little bit more below the surface.” 

Head genetic counsellor and scientific director at Monash Ultrasound for Women, Dr Melody Menezes, said advances in genetics allowed people to test whether they were carriers of hundreds of conditions, some of which can have a devastating effect on affected children. 

“About one in 50 couples have an increased chance of passing on a genetic condition to their baby and about one in 200 babies are born with an inherited genetic condition,” she said. 

“These conditions account for 20% of infant mortality and about 10% of paediatric hospital admissions. The majority of children affected with inherited genetic conditions are born into families with no history of the condition. 

She said genetic screening needed to be considered an essential part of any pregnancy planning. 

“In the future, we’d like to see this Medicare rebate extended to cover testing for other serious conditions, including Duchenne muscular dystrophy, and those that are more common among non-Caucasian communities such as thalassemia,” said Dr Menezes.” 

Pathology Awareness Australia ambassador and genetic pathologist, Dr Melanie Galea, also welcomed the new rebate. 

“These three conditions have been chosen because of the severity of the clinical phenotypes and because they are common within the population,” she said. 

She said the rebate would significantly enhance the accessibility of these tests, potentially saving many families from the heartache of unknowingly passing on a serious genetic condition to their children. 

“Reproductive carrier screening has become a mainstream test and has been available for several years in clinical laboratories across the country,” she said. 

A range of other changes to genetic testing through Medicare also began on 1 November including: 

  • Rebates for genetic testing to diagnose mitochondrial disease. 
  • An amendment to genetic testing for cardiac arrhythmia to align with genetic testing for cardiomyopathy. 
  • Genetic testing for childhood hearing loss. 
  • Gene panel testing for haematological malignancies. 
  • Small gene panel testing for non-small cell lung carcinoma. 
  • Targeted carrier testing for severe monogenic conditions. 
  • Detection of measurable residual disease in patients with acute lymphoblastic leukaemia. 
  • Prognostic gene expression profile test to determine the risk of early and late metastasis in node negative and positive breast cancer under endocrine treatment. 
  • Expansion of eligibility for testing for breast, ovarian, fallopian tube or primary peritoneal cancer. 

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