1. In this prospective cohort study, genetic screening among Australian reproductive couples was widely accepted and associated with low decisional regret.
2. Three out of four couples identified as having an increased risk of having a child with a genetic condition opted for reproductive interventions.
Evidence Rating Level: 2 (Good)
Study Rundown: Reproductive genetic screening offers individuals insight into their risk of having a child affected by genetic conditions, particularly X-linked or autosomal recessive ones. However, financial barriers often limit access, as commercialization drives up costs in many countries. Additionally, concerns surrounding accessibility, feasibility, and ethics have led to inconsistent implementation of government-funded programs worldwide. This Australian study evaluated the feasibility and acceptability of a nationwide couple-based genetic screening program encompassing 1,281 genes. Most couples were found to have a low risk of having a child with a screened genetic condition. Of the couples identified as high risk, fewer than a quarter were considered high risk before the screening. Notably, the majority of high-risk couples adjusted their reproductive plans based on the results. Decisional regret was low across all participants, regardless of their outcomes. In addition, very few participants did not support the implementation of a nationwide genetic screening program at the three-month time point. However, this screening program focused on severe childhood-onset conditions or those where early intervention could improve prognosis. It did not include all genetic conditions. As well, the study underrepresented Indigenous communities, individuals with lower educational attainment, and those from lower socioeconomic backgrounds. Despite these limitations, the findings support the feasibility and acceptability of a nationwide genetic carrier screening program in Australia.
Click here to read the study in NEJM
Relevant Reading: Genetic Carrier Screening — Call for a Global Mission
In-Depth [prospective cohort]: This study assessed the acceptability and feasibility of implementing a nationwide genetic carrier screening program for reproductive couples in Australia. Eligible participants included opposite-chromosomal-sex couples aged 18 or older who planned to conceive or were within 10 weeks of gestation. Couples with a known family history of genetic conditions could participate, and no explicit exclusion criteria were applied. Approximately 19,000 couples were invited to participate, and 9,107 (45.9%) eventually underwent genetic screening. Among the couples screened, 8,756 (96.1%) had a low risk of having a child with a genetic condition. Of the 355 couples identified as high-risk, 180 (50.7%) were already known to be at risk, while 175 (49.3%) were newly identified. Most newly identified couples (74.3%) were at risk for autosomal recessive conditions, while the rest (25.7%) were at risk for X-linked genetic conditions. Of these couples, 76.6% decided to alter their reproductive plans based on the results. A three-month follow-up survey was completed by 30.9% of participants, the majority (69.7%) identifying as female. There were no significant changes in participants’ health-related quality of life (measured using AQoL-4D) between enrollment and the follow-up. However, state anxiety, as measured by a six-item version of the state-trait anxiety inventory, was found to have increased from baseline in the groups identified to be at high risk. Decisional regret, measured on a Decision Regret Scale (0–100), was low overall. Indeed, over half (54.4%) of all participants indicated no regret in completing the screening program. The highest level of regret, with a median score of 15.0 (IQR, 10.0–25.0), was observed among newly identified high-risk couples. Nevertheless, 4323 of the 4376 (98.8%) of respondents supported making genetic carrier screening accessible to all couples. These findings underscore the program’s acceptability, usability, and feasibility, suggesting the potential for broader implementation of genetic screening in reproductive care.
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