Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening

The concept of severity in healthcare is multidimensional and subjective. It is a primary consideration in reproductive genetic carrier screening design where the focus is providing reproductive couples with information about the chance of severe genetic conditions in their offspring. When offering this screening, it is important to understand how condition severity is perceived and incorporated into reproductive decision-making. We analysed data from 41 semi-structured interviews with people who received a screening result indicating an increased chance for having children with a genetic condition. Thematic analysis revealed a desire for comprehensive information about the condition including clinical features, prognosis, impact on quality of life and treatment/management options. Participants integrated this information with their personal circumstances, beliefs/values and lived experience to form a perception of the severity of the condition. For rare and reduced-penetrance conditions where clinical information was limited or ambiguous, decision-making was more complex and greater anxiety was experienced. For conditions with a severity spectrum, reproductive decisions were based on the 'worst-case' clinical presentation. Where the impact of the condition was perceived as significant, the imperative to avoid that condition in future children appeared to be the greatest. Participants reported feeling that knowing their increased reproductive chance of the condition conferred a responsibility to avoid the condition, to prevent suffering and/or reduced quality of life for their children and future generations. These findings offer critical insight into how severity is perceived and the role it plays in reproductive decision-making and justifies a carefully considered approach to screening panel design.