Informed consent for polygenic risk score test in type 2 diabetes: A pilot study

Abstract

A polygenic risk score (PRS) is a genomic test that can reveal the risk of developing common diseases, such as type 2 diabetes. Before the testing, the participant must have sufficient understanding to give informed consent to participate in genomic testing, which may include a lot of new information and concepts. An additional challenge comes from understanding incidental findings of testing, although these are limited in the context of PRS. The purpose was to explore and describe participants’ perceptions of informed consent and research participation in the context of polygenic risk score testing for type 2 diabetes. The Research Participation and Informed Consent scale was part of a multi-scale study in the DIGIDIA feasibility pilot project. Recruitment targeted participants at increased risk of type 2 diabetes, those with pre-diabetes, or those diagnosed with diabetes in the previous year. After providing informed consent, participants (n = 60) completed baseline surveys. This article focuses on the data of the consent process collected as part of baseline surveys. Statistical tests, inductive content analysis, and mixed methods were employed. The findings show that the process of informed consent was clear and understandable from a consent perspective, but the purpose of PRS testing raised some ambiguity. Expertise in PRS was not seen as limited to just one profession, but many healthcare professionals were seen as potential experts. Participants emphasized a need for information, especially regarding incidental findings of genomic testing. The participant’s genomic literacy and understanding should be verified before genomic testing and informed consent. It should also be considered whether the possibility of incidental findings ought not to be brought up when the primary aim is solely PRS testing.