Laboratory Considerations for Reproductive Genetic Carrier Screening

The Australian Reproductive Genetic Carrier Screening Project, “Mackenzie’s Mission,” performed couple-based screening for 9107 reproductive couples for >1280 genes associated with severe autosomal and X-linked recessive disorders. It identified close to 1:50 participating couples as having a previously unknown increased risk of having children with a condition screened. Here, the processes, successes, and challenges of the laboratory testing undertaken during Mackenzie’s Mission are described. Samples were mouth swabs, self-collected and posted to one of three testing laboratories.