“We’ve done our due diligence”: Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition

Reproductive genetic carrier screening (RGCS) provides people with information about the likelihood of having children with serious inherited genetic conditions. The perspectives of people who have experience with a genetic condition are important in understanding the acceptability of RGCS. Through the Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission), over 10,000 reproductive couples were offered screening for genetic conditions associated with ~1300 genes. Of those who took part, some had previously had a prenatal, neonatal or paediatric diagnosis of a genetic condition in their offspring or had a genetic condition themselves. Although these participants knew their carrier status for the condition in their family, they had RGCS to determine if they had an increased chance for children with any of the other conditions screened. These participants were invited to take part in semi-structured interviews to explore their perspectives. Thematic analysis from interviews with 19 people from 17 reproductive couples demonstrated positive attitudes towards making RGCS widely accessible. Participants valued being offered screening for additional conditions. A sense of doing 'due diligence' to protect future children from potential harm caused by a genetic condition was a strong motivator to undergo RGCS. There was a willingness to accept short-term anxiety that RGCS can create because of the peace of mind it can provide. Participant's discourse demonstrated complex prior experiences leading to heightened risk perception and highlighted that, although they valued and and were supportive of screening, people with experience of genetic conditions may benefit from additional support to navigate RGCS.