Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings

Abstract

Background: The use of genomic sequencing techniques is increasingly being incorporated into mainstream health care. However, there is a lack of agreement on how “incidental findings” (IFs) should be managed and a dearth of research on patient perspectives. Methods: In-depth qualitative interviews were carried out with 31 patients undergoing genomic sequencing at a regional genetics service in England. Interviews explored decisions around IFs and were comparatively analyzed with published recommendations from the literature. Results: Thirteen participants opted to receive all IFs from their sequence, 12 accepted some and rejected others, while six participants refused all IFs. The key areas from the literature, (a) genotype/phenotype correlation, (b) seriousness of the condition, and (c) implications for biological relatives, were all significant; however, patients drew on a broader range of social and cultural information to make their decisions. Conclusion: This study highlights the range of costs and benefits for patients of receiving IFs from a genomic sequence. While largely positive views toward the dissemination of genomic data were reported, ambivalence surrounding genetic responsibility and its associated behaviors (e.g., duty to inform relatives) was reported by both IF decliners and accepters, suggesting a need to further explore patient perspectives on this highly complex topic area.