What's in a name? Justifying terminology for genomic findings beyond the initial test indication: A scoping review.

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  • Additional Information
    • Source:
      Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
    • Publication Information:
      Publication: 2022- : [New York] : Elsevier
      Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998-
    • Subject Terms:
      Incidental Findings* ; Genomics*; Humans ; United States ; Genome, Human/genetics ; Base Sequence ; Exome
    • Abstract:
      Genome sequencing can generate findings beyond the initial test indication that may be relevant to a patient or research participant's health. In the decade since the American College of Medical Genetics and Genomics published its recommendations for reporting these findings, consensus regarding terminology has remained elusive and a variety of terms are in use globally. We conducted a scoping review to explore terminology choice and the justifications underlying those choices. Documents were included if they contained a justification for their choice of term(s) related to findings beyond the initial genomic test indication. From 3571 unique documents, 52 were included, just over half of which pertained to the clinical context (n = 29, 56%). We identified four inter-related concepts used to defend or oppose terms: expectedness of the finding, effective communication, relatedness to the original test indication, and how genomic information was generated. A variety of justifications were used to oppose the term "incidental," whereas "secondary" had broader support as a term to describe findings deliberately sought. Terminology choice would benefit from further work to include the views of patients. We contend that clear definitions will improve ethical debate and support communication about genomic findings beyond the initial test indication.
      Competing Interests: Conflict of Interest The authors declare no conflicts of interest.
      (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)
    • Contributed Indexing:
      Keywords: Genomics; Incidental finding; Scoping review; Secondary finding; Terminology as topic
    • Publication Date:
      Date Created: 20230716 Date Completed: 20231107 Latest Revision: 20231113
    • Publication Date:
      20240829
    • Accession Number:
      10.1016/j.gim.2023.100936
    • Accession Number:
      37454281