Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better”

Abstract

Reproductive genetic carrier screening (RGCS) allows screening for hundreds of autosomal recessive and X-linked conditions. Multiple clinical professional bodies recommend that RGCS be offered to all prospective parents. There is some research into attitudes to targeted carrier screening for conditions common in specific populations. However, the attitudes of the public to RGCS for many conditions have not been extensively studied in Australia. The aim of this study was to investigate the views of adults without a personal or familial history of a genetic condition on the inclusion of conditions with varying clinical characteristics in RGCS panels. In 15 semi-structured telephone interviews, participants of reproductive age recruited from an obstetric ultrasound clinic and with convenience sampling in Melbourne, Australia, were presented with descriptions of seven groups of conditions with a range of severities. Participants were asked their views on whether the condition should be included in RGCS and whether they would choose to undertake screening for the condition. Data was co-coded by at least two members of the research team and analyzed with quantitative content analysis and qualitative inductive content analysis. Most participants support the inclusion of a wide range of conditions on screening panels. The perceived severity of the conditions presented to prospective parents influenced their reproductive decision-making. Even if they would not alter their reproductive choices based on a high-risk result, this largely did not influence their views regarding the full range of conditions they believe should be included in carrier screening panels. Participants saw value in the choice and knowledge provided by RGCS panels. Reasons for excluding certain types of conditions included a perceived mild impact on quality of life and concern over societal impacts from broad screening. This study indicates that prospective parents want a tiered approach to RGCS and the ability to choose the severity of conditions included in screening.