Abstract

BackgroundThe 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.MethodsIn‐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.ResultsThirteen 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.ConclusionThis 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.

Highlights

  • The appropriate handling of “incidental findings” (IFs) is an issue that has long concerned medical practitioners (Ofri, 2013)

  • Taking as its analytic framework the taxonomies developed by clinicians and researchers to classify and define various different types of IF (Table 1), this paper offers an in‐depth comparison of the views of 31 genomic sequencing patients (13 of whom accepted IFs and 18 of whom refused some or all IFs offered to them) with those of genetics professionals in order to identify areas of concordance and discordance between the perspectives and priorities of these two important stakeholder groups

  • The data were collected between October 2017 and March 2018. These interviews were part of a larger study that compares the views of the general population taking part in genomic sequencing research with the views of individuals and families living with genetic conditions (Boardman & Hale, 2018)

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Summary

| INTRODUCTION

The appropriate handling of “incidental findings” (IFs) is an issue that has long concerned medical practitioners (Ofri, 2013). The sheer volume of data that can be generated and analyzed through the use of genomic sequencing has been revolutionized by the emergence and increasing cost‐effectiveness of new technologies Due to this exponential rise in available data, the potential for IFs to emerge in the context of genomic research and clinical practice has correspondingly soared, raising important ethical and social issues around the acceptability of their identification and, more pertinently, their (non)disclosure to genomic medicine patients. It has been suggested that both extreme positions in this debate (i.e., the case for full disclosure of IFs and the case for their complete nondisclosure) are ethically unacceptable (Christenhusz et al, 2013) In other words, both withholding potentially relevant health information from patients, and indiscriminately disclosing all unsolicited findings are both viewed as both morally deplorable strategies. American College of Medical Genetics and Genomics (2013), American College of Medical Genetics and Genomics (2014), Green et al, (2013)

Literature Literature
Literature and clinical observations
Literature and consultation process
| METHODS
34 Proband Muscular dystrophy
| RESULTS
| DISCUSSION
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