The study investigated the feasibility and outcomes of a nationwide, couple-based genetic carrier screening program.  In total, 10,038 reproductive couples enrolled and were offered genetic carrier screening testing for at least 1,281 genes before pregnancy or early in pregnancy, of which 9,107 (90.7%) completed screening. Couples who were found to be genetic carriers for autosomal recessive or X-linked genetic conditions often opted to change their reproductive strategy. 

The researchers found that 1.9% of the 9,107 couples tested were newly identified as having an increased chance of having a child with a genetic condition identified in screening, and 76.6% of these couples subsequently said they used or planned to use reproductive interventions. Those with an increased risk of having a child with certain genetic conditions also reported greater anxiety than those who had a low chance.

“Couple-based carrier screening, before pregnancy or early in pregnancy, is a feasible way to deliver reproductive genetic carrier screening involving a large panel of genes to a geographically dispersed and diverse population,” the authors write.

In 2017, an Australian couple lost their baby daughter Mackenzie to spinal muscular atrophy. After that tragedy, they advocated for access to reproductive carrier screening, forming a nationwide genetic carrier screening project called Mackenzie’s Mission, which the Australian government funded to the tune of $20 million. Genetic carrier screening has been available in Australia for a while, but individuals had to pay for the service and many people were not offered it. Authors also noted that free carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome is now available for Australians planning pregnancy.

“In our study, 80% of the newly identified increased chance couples were for conditions other than these three, emphasizing how important it is to screen for a greater number of conditions,” authors said.