WA is leading the way in a national $20 million pre-pregnancy screening study testing volunteer couples for genetic mutations that cause devastating diseases.
The program known as Mackenzie’s Mission, co-led by Harry Perkins Institute of Medical Research geneticist Professor Nigel Laing AO, aims is to test 1300 WA couples by the end of this year.
“I’ve been surprised by the spread of different genes we found couples are at risk for. It’s quite remarkable,” Professor Laing AO said.
“There are about a dozen different diseases. 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 have picked.”
“We’ve seen the reactions of families who are just so grateful that their disease gene has been found,” he said. It has enabled couples to have an unaffected child.
“I think it’s just the right thing to do to make this available to people if they want to use it.”
Already more than 300 WA couples have taken up the opportunity to be screened for more than 750 disease genes that lead to death before the age of 4 years old.
Amy Fels and her partner Paul Greco (pictured above) are among the WA couples screened as part of the trial. The couple was relieved to get a clear result and is now pregnant with their first child.
One in 25 of the 323 couples who have had their results were found to have faulty genes which put them at higher risk of having a child with a severe or fatal condition.
Original story published in The West Australian at https://bit.ly/3ub1OJZ
Image by Trevor Collens at The West Australian