Almost one in 50 couples is at “increased chance” of having children with one or more of 750 severe genetic conditions, the final report into the ground-breaking Mackenzie’s Mission study has found.
The findings, published in The New England Journal of Medicine, are from one of the world’s largest studies into reproductive genetic carrier screening at population level.
Mackenzie’s Mission tested 9107 couples across Australia to see if they carried genetic variants that meant they had a one-in-four chance of having children with one or more of the 750 severe genetic conditions screened.
Of those couples 1.9 per cent were found to be carriers, three quarters of whom used that information to inform their decisions about having children, including using IVF and selecting embryos unaffected by the genetic condition.
The study was named after Mackenzie Casella, the daughter of Rachael and Jonathan Casella, who died of spinal muscular atrophy at seven months old.
The project, administered by Australian Genomics and funded by the Federal Government’s Genomics Health Futures Mission, set out to find answers to the challenges involved in setting up a national government-funded carrier screening program.
These included how best to offer it at population level, which genes to include, how laboratories report results, how couples respond once they learn they are carriers, and costs.
The study leads were Professor Martin Delatycki AM (Victorian Clinical Genetics Services (VCGS), Murdoch Children's Research Institute (MCRI)), Emeritus Professor Nigel Laing AO (Harry Perkins Institute of Medical Research, PATHWEST LABORATORY MEDICINE WA and The University of Western Australia) and Professor Edwin Kirk AM (NSW Health Pathology, UNSW, Sydney Children's Hospitals Network).
Read more on the Australian Genomics website: https://lnkd.in/gsRMzzty
Read the abstract in the NEJM Group journal: https://lnkd.in/gEpEyKci
Learn more about the Mackenzie’s Mission study: https://lnkd.in/gs5pmffj
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