Towards responsible genome-wide screening

Genome-wide screening can be offered at various stages of life and serve multiple purposes, including early detection of treatable conditions, achieving health benefits, or enhancing reproductive choice. Although genome-wide screening offers many advantages and possibilities, deciding which genomic data to analyse, how to interpret results, and how to communicate findings raises significant challenges. In this study, we combine a normative analysis of genome-wide screening in three different settings (population screening, opportunistic screening, and direct-to-consumer genetic testing) with an exploration of stakeholder views. In doing so, we used proportionality as the central normative criterion, and we investigated four key issues in screening: 1) dealing with unsolicited, secondary and uncertain findings, 2) information and consent, 3) privacy, storage, and (re)use of data, and 4) non-participation in screening. Our findings show broad consensus on the need for a cautious approach towards genome-wide screening. The proportionality criterion requires that benefits outweigh harm on both individual and societal level. Although genome-wide testing offers a range of possible expansions of screening, evidence showing that an expansion is proportional is lacking in most cases. The expansion of direct-to-consumer genetic testing raised the most concerns and questions in terms of proportionality. In all screening settings, the position of and advocacy for newborns and children deserve special attention. Given the already scarce resources and personnel in healthcare, responsible implementation of genome-wide screening must be grounded in well-defined normative frameworks, supported by pilot studies that critically evaluate harms and benefits on both individual and societal level.