Pathology Awareness Australia says new Medicare items covering reproductive carrier screening increase access to carrier testing, allowing individuals and couples more reproductive choices and saving heartache for many Australian families.

Following the announcement by the Medicines Services Advisory Committee (MSAC) in 2022, people who are planning to start a family will now have expanded access to genetic carrier screening, which began in November 2023.

This testing provides people with crucial information that can significantly impact their reproductive choices.

The three conditions covered by the expanded testing are cystic fibrosis, spinal muscular atrophy, and Fragile X syndrome. Approximately 1 in 20 people are carriers of one or more of these conditions1. While varying in severity, these conditions, are all associated with significant health challenges, making early identification vital for making informed reproductive choices.

Genetic carrier screening is a powerful tool for identifying individuals at risk of carrying genetic changes associated with inherited conditions.

Pathology Awareness Australia (PAA) ambassador and genetic pathologist, Dr Melanie Galea, emphasises the importance of this testing:

“The three gene carrier screen enables individuals and couples to assess their risk of three common inherited conditions occurring in their children.”

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

  • Cystic fibrosis: Disorder that affects the lungs, pancreas, and other organs. Symptoms include frequent lung infections, malabsorption and shortened lifespan.
  • Spinal muscular atrophy (SMA): Affects the nervous system and causes muscle weakness and atrophy. SMA is the leading genetic cause of infant mortality.
  • Fragile X syndrome (FXS): Causes intellectual disability, behavioural and learning challenges. FXS is the most common inherited cause of intellectual disability.

Genetic carrier screening can help identify carriers of the genetic changes that result in these conditions. The expansion will 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.

Upon receiving results that identify them as carriers of a genetic condition, individuals and couples will have a range of options to consider, Dr Galea emphasised:

“We would recommend genetic counselling for at-risk patients identified by this screening to discuss the results, their implications and the reproductive options that are available. These options may include access to preimplantation genetic diagnosis through IVF, the use of donor gametes, prenatal diagnostic testing during pregnancy, and accepting the risk.”

In October 2017, a heartbreaking story came to light when Mackenzie Casella lost her battle with spinal muscular atrophy (SMA) at just seven months old. Her parents embarked on a quest called Mackenzie’s Mission2. Their goal was clear: to make genetic carrier screening a standard and cost-free service for all Australian families preparing for parenthood. Their tireless efforts have been a driving force behind this funding allocation for expanded genetic carrier screening in Australia.

Dr Galea further added, “Reproductive carrier screening has become a mainstream test and has been available for several years in clinical laboratories across the country. The introduction of these rebates will make this testing more accessible to help inform reproductive decision making.”

The reproductive carrier screen test (CF, SMA and FXS) will be reimbursed under the Medicare Benefits Schedule starting November 20233.

Quotes attributable to The Hon Mark Butler MP, Minister for Health and Aged Care:

“These new Medicare rebates for cutting-edge genetic testing will strengthen Medicare and make healthcare more affordable and available.” “The new Medicare rebate for reproductive carrier testing will provide confidence to women and their partners as they plan a pregnancy and start a family.”



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