Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

Abstract

Genome sequencing has been rapidly integrated into clinical research and is currently marketed to health-care practitioners and consumers alike. The volume of sequencing data generated for a single individual and the wide range of findings from wholegenome sequencing raise critical questions about the return of results and their potential value for end-users. We conducted a mixed-methods study of 311 sequential participants in the NIH ClinSeq study to assess general preferences and specific attitudes toward learning results. We tested how these variables predicted intentions to receive results within four categories of findings ranging from medically actionable to variants of unknown significance. Two hundred and ninety-four participants indicated a preference to learn their genome sequencing results. Most often, participants cited disease prevention as their reason, including intention to change their lifestyle behaviors. Participants held positive attitudes, strongly perceived social norms and strong intentions to learn results, although there were significant mean differences among four categories of findings (Po0.01). Attitudes and social norms for medically actionable and carrier results were most similar and rated the highest. Participants distinguished among the types and quality of information they may receive, despite strong intentions to learn all results presented. These intentions were motivated by confidence in their ability to use the information to prevent future disease and a belief in the value of even uninterpretable information. It behooves investigators to facilitate participants' desire to learn a range of information from genomic sequencing while promoting realistic expectations for its clinical and personal utility.

Research participants in NGS studies want to know about incidental findings

“…The authors also found that their results reflected the ability of the participants to discriminate between different types of genetic results. 19 Shahmirzadi et al 20 conducted a retrospective study on the patients' decisions to learn IFs when undergoing clinical WES. In this study, the options for IFs where divided into carrier status of recessive disorders, predisposition to late-onset diseases, predisposition to increased cancer risk and early-onset diseases.…”

Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care

“…17 In addition, issues of access and equity have started to be raised in the conceptual literature, 24 and there is some empirical evidence of consumer concern about access to relevant tests. 17,21 In addition, emerging literature attends to the identification of genetic risk information using next-generation sequencing technologies and highlights expectations related to research participation and preferences for results, 25 including incidental results. Yet, although research exploring patient experiences with testing for inherited health risks is extensive, 26,27 research on the effects of receiving unexpected or uncertain genetic information is less developed.…”

Whole Genome Sequencing as a Diagnostic Test: Challenges and Opportunities

“…Genetic information that is of clinical relevance, even when not related to the reason for testing, and that will affect the patient, their relatives, and/or their offspring should always be disclosed for preventable or treatable diseases like Lynch syndrome, cancer-related genes such as breast cancer 1, early onset (BRCA1) 5 and breast cancer 2, early onset (BRCA2), and carrier status. In one study, patients were most interested in receiving WGS results for a preventable or treatable disease and determining carrier status (36 ). Information about risks for future diseases that are nonpreventable and/or untreatable like Huntington disease and carrying the APOE4 variant of the apolipoprotein E (APOE) gene (associated with Alzheimer disease) should be disclosed only with prior patient consent.…”