Nationwide, Couple-Based Genetic Carrier Screening

This study assessed the feasibility, outcomes, and acceptability of a nationwide, couple-based genetic carrier screening program in Australia (Mackenzie’s Mission). Among 10,038 reproductive couples screened for 1281 genes linked to autosomal recessive or X-linked conditions, 1.9% were newly identified as having an increased chance of having a child with a serious genetic condition. Most used the results to inform reproductive decisions. The approach proved feasible, acceptable, and informative across a geographically diverse population.

This study assessed the feasibility, outcomes, and acceptability of a nationwide, couple-based genetic carrier screening program in Australia (Mackenzie’s Mission). Among 10,038 reproductive couples screened for 1281 genes linked to autosomal recessive or X-linked conditions, 1.9% were newly identified as having an increased chance of having a child with a serious genetic condition. Most used the results to inform reproductive decisions. The approach proved feasible, acceptable, and informative across a geographically diverse population.