1+MG Incidental Findings Policy - Summary and Recommendations - version for 1+MG Framework

Context

Analysis of whole genome sequence data can reveal information of clinical relevance to data subjects and their family members (incidental findings (IFs), broadly defined here to include any individual finding of clinical relevance, whether related or unrelated to the aims of secondary use (e.g. research project or healthcare diagnosis). Clinicians and researchers have legal and ethical obligations to appropriately handle IFs in a manner that shows due concern for the welfare of data subjects and their family members. The likelihood of IFs in healthcare and research contexts, as well as the benefits, risks, and costs of reporting them, are not fully understood. European healthcare and research organizations tend to handle IFs cautiously.

1+MG aims to facilitate the secondary use of pseudonymised genomic and related-health data for the purposes of research, health-care and policy-making. The scope of this policy therefore focuses on genomic IFs revealed in secondary use contexts. The uncertainties surrounding IFs are greater still in secondary use contexts compared to (both clinical and research) primary contexts. Secondary use contexts may be very distant from a patient care context. This makes it unclear if distant 1+MG data users, especially researchers, have legal and ethical duties of care towards data subjects. Practically speaking, it is also difficult for 1+MG data users to assess if a potential IF is (still) clinically actionable. Secondary use may occur many years after sequencing. The health and familial situation of a 1+MG data subject are not fully known  to the data user, and become more uncertain with the passage of time. 1+MG minimum data standards ensure sufficient data quality to enable secondary use, but the data may not be suitable for informing diagnosis of the original data subjects or their family members. A key practical difficulty in cross-border, secondary use contexts is that the data user does not know what IF policy applied in the initial healthcare or research context. Efforts to communicate an IF from secondary use may be undermined if the IF has already been returned to the data subject or family members. Another practical difficulty in cross-border secondary use contexts is that reporting IFs requires dedicated coordination and collaboration between data users, 1+MG coordinating bodies, data holders, and (designated) healthcare professionals. Because of this context, reporting of IFs should be handled cautiously.