A genetic researcher’s devil’s dilemma: Warn relatives about their genetic risk or respect confidentiality agreements with research participants?

Abstract

Background With advances in sequencing technologies, increasing numbers of people are being informed about a genetic disease identified in their family. In current practice, probands (the first person in a family in whom a genetic predisposition is identified) are asked to inform at-risk relatives about the diagnosis. However, previous research has shown that relatives are sometimes not informed due to barriers such as family conflicts. Research on family communication in genetic diseases aims to explore the difficulties encountered in informing relatives and to identify ways to support probands in this. Main body Research on family communication may also reveal that participants did not inform their relatives about the risk of a serious genetic condition, even when preventive and treatment options are available. Researchers may then face a dilemma: Do they need to warn at-risk relatives about the finding? Or do they keep silent due to prior confidentiality agreements with study participants? Conclusions We believe that the absolute confidence promised to research participants outweighs the interests of their relatives, even though it can be claimed that relatives at risk of a genetic disease do, in principle, have a right to know information collected about their health. Not respecting confidentiality agreements could cause distrust between researchers and research participants and possibly harm the relationship between probands and relatives. Relatives' health interests can still be taken into account without jeopardizing participant trust, by considering alternative scenarios, including sharing general study findings on the barriers participants experience with their healthcare professionals and by offering participants psychosocial support for family communication.

Utilization of genetic information for medicines development and equitable benefit sharing

“…This remains a major ethical concern in the use of genomic information for medicines development and equitable benefit sharing ( Simm, 2007 ). Genetic data may be particularly sensitive because of their ability to precisely identify individuals, and predict risks in relatives ( van den Heuvel et al, 2021 ) and potentially in specific populations or communities ( Sharp and Foster, 2000 ; Otlowski et al, 2012 ) beyond those who may have given their consent to use or re-use their biological materials and/or data. Therefore, it becomes necessary to evaluate risks beyond individuals to family members and to relevant communities.…”