New genetic screening helps couples make informed decisions
New genetic testing technology can now identify couples who have a higher chance of having a child with certain genetic conditions. A study called Mackenzie's Mission was conducted across Australia to see if this kind of testing could be done on a large scale and to understand how people experienced it. A/Prof Stephanie Best from the University of Melbourne led the implementation science aspect of the study with colleagues from Macquarie University and Murdoch Children’s Research Institute.
The study offered genetic screening to couples planning to have a baby or in early pregnancy. They tested for over 1,200 genes and looked at how the results affected couples emotionally and what choices they made afterwards.
Out of more than 10,000 couples who joined the study, about 9,100 completed the screening. Around 175 couples found out they had a higher chance of having a child with a genetic condition. These conditions were linked to 90 different genes, and most were conditions that a child would only get if both parents carried the gene.
Three months after getting their results, about three-quarters of the high-risk couples had either used, or planned to use, methods to avoid having a child with the condition. Overall, almost all participants thought the screening was acceptable, and very few regretted their decision to be tested. The study showed that it's possible to offer this kind of genetic screening across a large and diverse population, and that couples found it helpful for making decisions about having children.
Kirk EP, Delatycki MB, Archibald AD, et al. Nationwide, Couple-Based Genetic Carrier Screening. N Engl J Med 2024;391(20):1877-1889. DOI: 10.1056/NEJMoa2314768.