The study known as Mackenzie’s Mission, co-led by Harry Perkins Institute of Medical Research geneticist Professor Nigel Laing AO, aims to test 1300 WA couples as part of a national total of 10,000 couples.
Already nearly 650 WA couples have taken the opportunity to be screened for more than 750 severe recessive diseases, including many that lead to death before age 4.
“I’ve been surprised by the spread of different disease genes we have found putting couples at risk of having an affected child. It’s remarkable,” Professor Laing said.
“So far, nearly 40 different diseases have been identified across the country. It’s not just the big three, cystic fibrosis, fragile X and spinal muscular atrophy, but all sorts of other things that we would never really have expected to find.”
Nearly 90 per cent of couples at risk of having babies with severe genetic conditions have no family history of the disorders, no idea they are carriers, or that they are at risk of having an affected baby.
“We’ve seen the reactions of families just so grateful that their disease gene has been found,” he said. It is enabling couples to have unaffected children.
The study is funded by the Federal Government’s Medical Research Future Fund through Australian Genomics.
Before Mackenzie’s Mission, Western Australia ran a pilot study involving Professor Laing’s team, PathWest, the WA Department of Health’s Genetic Services WA and the Busselton Population Medical Research Institute. It provided crucial information to Mackenzie’s Mission.
“The results of both studies exemplify the benefits of the close working relationships between the Harry Perkins Institute’s genetics team, PathWest and Genetic Services WA” said Professor Laing.
Story published in Life Sciences WA (online)
