Fremantle Hospital & Health Service (Australia)

This study will investigate reproductive genetic carrier screening (RGCS) in 10,000 couples across Australia. Carrier screening for approximately 1300 genes associated with severe, childhood-onset, X-linked and autosomal recessive conditions will be performed on each member of the couple. A combined result will be issued indicating whether the couple has a 'low' or 'increased' risk of having a child with a genetic condition. It is anticipated that 1-2% of couples will be at an increased risk of having an affected child.
The study will evaluate all aspects of the RGCS program to assess the feasibility and acceptability of a publicly-funded population-wide RGCS program, including:
education of recruiting healthcare providers
education of participating couples
implementation and uptake of RGCS
frequency of increased-risk couples and their reproductive decisions
psychosocial impacts
ethical issues
health economic implications
health implementation research