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. 2020 Mar;17(2):101-109.
doi: 10.2217/pme-2019-0067. Epub 2020 Mar 3.

Assessing the implications of positive genomic screening results

Margaret Waltz  1 , Karen M Meagher  2 , Gail E Henderson  1 , Katrina Ab Goddard  3 , Kristin Muessig  3 , Jonathan S Berg  4 , Karen E Weck  4   5 , R Jean Cadigan  1   6
Affiliations

Assessing the implications of positive genomic screening results

Margaret Waltz et al. Per Med. 2020 Mar.

Abstract

Aim: Before population screening of 'healthy' individuals is widely adopted, it is important to consider the harms and benefits of receiving positive results and how harms and benefits may differ by age. Subjects & methods: Participants in a preventive genomic screening study were screened for 17 genes associated with 11 conditions. We interviewed 11 participants who received positive results. Results: Interviewees expressed little concern about their positive results in light of their older age, the risk condition for which they tested positive, or other pressing health concerns. Conclusion: Researchers and clinicians should recognize that returning positive results may not have the impact they presume given the diversity of the conditions screened and those who choose to undergo screening.

Keywords: ELSI; age; ethics; genetic screening; harms and benefits; panel screening; population screening; qualitative interviews; return of results.

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Conflict of interest statement

Financial & competing interests disclosure

The support for this article was provided by the National Institutes of Health (NIH) Grant Numbers 2P50HG004488 and 2U01HG006487-05 (for M Waltz). The views expressed are those of the authors alone and do not necessarily reflect views of NIH. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

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