Research participant interest in primary, secondary, and incidental genomic findings

Jennifer T. Loud, Renee C. Bremer, Phuong L. Mai, June A. Peters, Neelam Giri, Douglas R. Stewart, Mark H. Greene, Blanche P. Alter, Sharon A. Savage

Research output: Contribution to journalArticle

Abstract

Purpose:To define the frequency with which adult research participants consent to be offered clinically validated research genetic test results (RR) and incidental findings (IF).Methods:Consents were obtained from 506 adults enrolled in one of three studies within the National Cancer Institute Clinical Genetics Branch's Familial Cancer Research Program. A cross-sectional analysis was performed involving the choices indicated on study consents regarding receipt of RR and IF.Results:Ninety-seven percent opted to receive RR and IF. Participants who declined (n = 16) included two cancer survivors who were mutation-positive (1 = RR and 1 = both), eight who knew their primary mutation status (3 = RR; 4 = IF; 1 = both), three nonbloodline relatives (1 = RR; 2 = both), one untested but with the syndromic phenotype (1 = IF), and two parents of an affected child (2 = both). We speculate that these individuals either already had sufficient information, were not prepared to learn more, or felt that the information would not change their personal health-care decision making.Conclusions:Adult research participants from families at high genetic risk for cancer overwhelmingly indicated their preference to receive both RR and IF. Future research will seek to identify the reasons for declining RR and IF and to study the impact of receipt of RR and IF on personal medical decision making.

Original languageEnglish (US)
Pages (from-to)1218-1225
Number of pages8
JournalGenetics in Medicine
Volume18
Issue number12
DOIs
StatePublished - Dec 1 2016
Externally publishedYes

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Keywords

  • Familial cancer syndromes
  • genetic testing
  • incidental findings
  • intentions to receive research genetic results
  • whole genome/exome sequencing

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Loud, J. T., Bremer, R. C., Mai, P. L., Peters, J. A., Giri, N., Stewart, D. R., Greene, M. H., Alter, B. P., & Savage, S. A. (2016). Research participant interest in primary, secondary, and incidental genomic findings. Genetics in Medicine, 18(12), 1218-1225. https://doi.org/10.1038/gim.2016.36