Reporting Genetic Findings to Individual Research Participants: Guidelines From the Swiss Personalized Health Network

Abstract

In 2017 the Swiss federal government established the Swiss Personalized Health Network (SPHN), a nationally coordinated data infrastructure for genetic research. The SPHN advisory group on Ethical, Legal, and Social Implications (ELSI) was tasked with the creation of a recommendation to ensure ethically responsible reporting of genetic research findings to research participants in SPHN-funded studies. Following consultations with expert stakeholders, including geneticists, pediatricians, sociologists, university hospitals directors, patient representatives, consumer protection associations, and insurers, the ELSI advisory group issued its recommendation on “Reporting actionable genetic findings to research participants” in May 2020. In this paper we outline the development of this recommendation and the provisions it contains. In particular, we discuss some of its key features, namely: (1) that participation in SPHN-funded studies as a research subject is conditional to accepting that medically relevant genetic research findings will be reported; (2) that a Multidisciplinary Expert Panel (MEP) should be created to support researchers’ decision-making processes about reporting individual genetic research findings; (3) that such Multidisciplinary Expert Panel will make case-by-case decisions about whether to allow reporting of genetic findings, instead of relying on a pre-defined list of medically relevant variants; (4) that research participants shall be informed of the need to disclose genetic mutations when applying for private insurance, which may influence individual decisions about participation in research. By providing an account of the procedural background and considerations leading to the SPHN recommendation on “Reporting actionable genetic findings to research participants,” we seek to promote a better understanding of the proposed guidance, as well as to contribute to the global dialog on the reporting of genetic research findings.