Ethical and Practical Considerations in Implementing Population-Based Reproductive Genetic Carrier Screening

Abstract

Reproductive genetic carrier screening (RGCS) has emerged as a promising tool for identifying couples with an increased likelihood of conceiving a child with an autosomal recessive or X-linked genetic condition. By enabling early detection, RGCS has the potential to support informed reproductive decision-making. Historically, carrier screening initiatives aimed to decrease the prevalence of specific genetic disorders by targeting particular high-risk populations. More recently, there has been a shift towards offering RGCS for a wider range of conditions, with the goal of enhancing reproductive autonomy by facilitating informed decision-making and addressing inequities in access to healthcare interventions. However, this shift towards a more inclusive, population-based approach has raised questions about the tension between individual autonomy and public health goals, as well as concerns regarding the potential negative effects of large-scale genetic screening initiatives. Furthermore, there is growing interest in utilizing RGCS data for broader purposes, such as population-based genetic screening programs for hereditary cancers or identifying causes of unexplained infertility, which may present additional ethical considerations. This review explores the complexities surrounding the implementation of RGCS, with an emphasis on its objectives, the significance of informed decision-making, and the wider societal challenges it may present. By analyzing these interconnected factors, we aim to provide a thorough understanding of the potential implications of RGCS on both individual autonomy and societal dynamics.