For the first time in WA a screening program that can detect more than 450 disease genes is being offered to couples planning to have a baby in Busselton.
The pilot project is being run by the Harry Perkins Institute of Medical Research, the WA Department of Health’s Genetic Services WA, PathWest and the Busselton Population Medical Research Institute.
Professor Nigel Laing AO, an internationally acclaimed genetics researcher who heads the Neurogenetic Disease Laboratory at the Harry Perkins Institute of Medical Research in Perth said screening was being offered to 250 couples in the Busselton region who want to know if they are carriers of more than 450 rare genetic diseases before they have children.
Rare diseases and malformations cause 51 per cent of deaths in the first year of life. However, nearly 90 per cent of couples at risk of having babies with devastating genetic conditions have no family history of the disorders and no idea they are potential carriers.
The likelihood of a baby being born with just one of three commonly screened conditions, cystic fibrosis, fragile X syndrome or spinal muscular atrophy which can cause paralysis, is comparable to the chance of having a child born with Down syndrome.
Professor Laing said one in 50 people were carriers for SMA, and if they partner with another carrier they have a one in four chance with every pregnancy of having a baby with SMA.
“The pilot project will test couples’ chances of passing on to their children severe genetic conditions including those that lead to death in the first years of life,” he said.
“At the Harry Perkins Institute of Medical Research, we have a team of scientists searching to identify disease genes that cause babies to be born with severe disabilities or to die before or soon after birth. So far we have identified the cause of more than 30 genetic conditions.”
Medical research genetic counsellor Samantha Edwards said if high-risk parents found out they were carriers of a genetic condition they would be presented with a number of options.
Ms Edwards said they could chose to prevent having a child with that condition through a number of avenues such as an IVF procedure to test the embryos to see if they were affected or not.
“They could choose to only implant the unaffected embryos and there is also testing that can be done during pregnancy to see whether the pregnancy is affected and make a decision at that point.
“The point of this study is to give people that information if they are high-risk and ensure they know what their reproductive options are, then give couples support to move forward in a way they are comfortable with.”
Professor Laing said they expected 1 per cent of couples would be identified as high-risk through the pilot program.
“The vast majority of couples would get a low-risk result but what we are aiming for is to give high-risk couples information so they can choose what they want to do.”
As part of the pilot, GPs in Busselton have received genetic counselling training. The GP’s are part of a team that includes researchers, genetic counsellors, clinical geneticists and molecular pathologists.
Professor Laing said Busselton was chosen to run the pilot because of its long history of research projects like the Busselton Health Study and the amazing participation of residents.
“It is also a nicely contained population in a way so we can start small and we can look at how this can be done in a rural town,” he said.
“Because in the future if this goes nationwide we will have to be able to run this in rural communities, Busselton was the ideal place.”
The pre-pregnancy carrier screening test involves a blood test and results are expected to be returned to the couple within four weeks. Couples interested in finding out more or registering can email carrierscreeningWA@uwa.edu.au