The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review

The expanding use of whole genome sequencing (WGS) and whole exome sequencing (WES) underscores the need to better understand the psychosocial impact of receiving a broader range of potential results than those generated by other types of genetic testing. This systematic review aimed to provide a comprehensive assessment of the psychosocial impact of WGS and WES testing in adult populations. An electronic literature search was conducted to identify studies published up to July 2025. Quantitative and qualitative studies involving adult population, published in English, and examining the psychosocial impact of WES and WGS test results were included in the analysis. The analysis included 45 studies (27 quantitative, 11 qualitative, 7 mixed-methods). Findings were organized into four categories: positive experiences, negative experiences, uncertainty and results sharing. Positive experiences were common, with participants reporting satisfaction from gaining greater insight into their health; negative experiences were also frequently reported, but were typically of low intensity. Feelings of uncertainty were less present among individuals who received genetic counseling. Sharing of test results was widespread, with participants demonstrating a good understanding of the implications for both themselves and others. this systematic review provides an overview of the existing literature exploring the psychosocial impact of receiving WGS and WES results in the adult population. Overall, the findings indicate that the benefits generally outweigh the potential risks of psychological distress, and that sharing of results is common. However, further qualitative and longitudinal research with larger and more diverse samples, as well as more nuanced and sensitive instruments, are needed to identify individual differences in responses that will help inform the development of appropriate models of care.