From the 1st of November 2023, Medicare started to cover the cost of reproductive carrier screening for cystic fibrosis, spinal muscular atrophy, and Fragile X syndrome for reproductive couples who are planning or already pregnant.
Encouraging conversation between GPs and patients around reproductive carrier screening not only equips individuals and couples with essential information but also helps them to take steps towards preventing genetic disorders in their children and empowering them with choice.
Genea is among the first clinics to offer testing to reproductive couples going through IVF.
Reproductive couples identified through carrier screening as having an increased chance of having a child affected with oneof the conditions screened can access a free Genea Genetic Counselling Session with our leading genetic counsellors and fertility advisors. It’s important to note that genetic counselling is currently not covered by the Medicare rebate.
Around 1 in 240 Australian couples will be identified as at high risk of their child being born with one of these conditions.1 Around 2% of couples who have expanded carrier screening (broad gene panels) will be identified as having an increased chance of having a child affected with one of the conditions tested.2
When Illawarra couple Jess and John were considering having a third child, their GP recommended they undergo the reproductive carrier screening test.
Jess says, “We already had two kids and didn’t initially think we were at risk for a genetic condition, but we decided to take the test anyway.”
“To our surprise, the RCS test results showed that both my husband John and I were carriers of cystic fibrosis. That revelation prompted us to consult a Genea counsellor who helped us understand the potential risks and the likelihood of our future baby’s survival.”
“It was a complex choice for us. We truly wanted a third child. Opting for the test provided us with the information we needed to make an informed decision about what was best for both my husband and me and our entire family. We consider ourselves fortunate to have had a third child, Finn who is now 15 months and healthy.”
It’s not uncommon for children affected by these conditions to be born into families with no prior history. This is primarily because these conditions are relatively rare, and their inheritance patterns are not always evident. Often, couples discover their carrier status only after the birth of an affected child, leaving them with no choice.
Associate Profession Lionel Reyftmann, Genea Fertility Specialist in Wollongong, says “While reproductive carrier screening is readily available in Australia, it’s important to highlight that most reproductive couples have been covering the expenses themselves. The decision to cover the cost of this test via Medicare will help address potential health equity concerns and minimise social and financial barriers.”
“Importantly, it ensures that everyone has equal access to this test when planning a family, allowing them to make an informed choice in their specific situation. Reproductive carrier screening is valuable in specific situations, as it empowers individuals or couples to make informed decisions that may potentially result in hereditary diseases or other health concerns for they future child.”
For natural conception, reproductive carrier screening is done before or during pregnancy. In IVF cases, genetic carrier screening can be combined with preimplantation genetic testing (PGT) to test embryos for specific genetic mutations before implantation.
Dr Mark Bowman, Group Medical Director, Genea says, “Genetic counselling is an essential component of carrier screening. Our dedicated genetic counsellors support individuals in understanding the condition, gaining knowledge of available options, and considering the unique personal factors of each individual or couple, including their beliefs, risk perceptions, fertility, and financial considerations. It’s all about providing couples with the support they need to make an informed choice.”
About cystic fibrosis, spinal muscular atrophy, and Fragile X in Australia:
Cystic fibrosis, spinal muscular atrophy, and Fragile X syndrome are three of the most common inherited conditions in the general population, with carriers being prevalent in Australia. An estimated 1 in 20 individuals carries one or more of these conditions, yet a significant portion remains unaware of their carrier status. It is not uncommon for children affected by these conditions to be born into families with no prior history of the diseases, primarily because these conditions are relatively rare, and their patterns of inheritance are not always evident. Early information can allow for decisions and early treatments which may improve outcomes for certain conditions.
About Genea Fertility: Genea Fertility is a world-leading fertility clinic network with more than 37 years’ experience helping Australians achieve their dreams of parenthood. There are 12 Genea Fertility clinics across NSW, Victoria, Western Australia, Queensland, the ACT, and South Australia. We are proud of our success rates and the quality care, treatment, and outcomes we provide to our patients. For more information about Genea visit www.genea.com.au
References:
1 Archibald AD, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med. 2018 Apr;20(5):513-523. doi: 10.1038/gim.2017.134. Epub 2017 Oct 26. Erratum in: Genet Med. 2018 Feb 01; PMID: 29261177.
2 Westemeyer M, et al. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.Genet Med. 2020 Aug;22(8):1320-1328. doi: 10.1038/s41436-020-0807-4. Epub 2020 May 5. Erratum in: Genet Med. 2020 Jun 2; PMID: 32366966; PMCID: PMC7394882.