Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

M. Ragan Hart, Barbara B. Biesecker, Carrie L. Blout, Kurt D. Christensen, Laura M. Amendola, Katie L. Bergstrom, Sawona Biswas, Kevin M. Bowling, Kyle B. Brothers, Laura K. Conlin, Greg M. Cooper, Matthew C. Dulik, Kelly M. East, Jessica N. Everett, Candice R. Finnila, Arezou A. Ghazani, Marian J. Gilmore, Katrina A.B. Goddard, Gail P. Jarvik, Jennifer J. JohnstonTia L. Kauffman, Whitley V. Kelley, Joel B. Krier, Katie L. Lewis, Amy L. McGuire, Carmit McMullen, Jeffrey Ou, Sharon E. Plon, Heidi L. Rehm, C. Sue Richards, Edward J. Romasko, Ane Miren Sagardia, Nancy B. Spinner, Michelle L. Thompson, Erin Turbitt, Jason L. Vassy, Benjamin S. Wilfond, David L. Veenstra, Jonathan S. Berg, Robert C. Green, Leslie G. Biesecker, Lucia A. Hindorff

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

Purpose: Clinical sequencing emerging in health care may result in secondary findings (SFs). Methods: Seventy-four of 6240 (1.2%) participants who underwent genome or exome sequencing through the Clinical Sequencing Exploratory Research (CSER) Consortium received one or more SFs from the original American College of Medical Genetics and Genomics (ACMG) recommended 56 gene–condition pair list; we assessed clinical and psychosocial actions. Results: The overall adjusted prevalence of SFs in the ACMG 56 genes across the CSER consortium was 1.7%. Initially 32% of the family histories were positive, and post disclosure, this increased to 48%. The average cost of follow-up medical actions per finding up to a 1-year period was $128 (observed, range: $0–$678) and $421 (recommended, range: $141–$1114). Case reports revealed variability in the frequency of and follow-up on medical recommendations patients received associated with each SF gene–condition pair. Participants did not report adverse psychosocial impact associated with receiving SFs; this was corroborated by 18 participant (or parent) interviews. All interviewed participants shared findings with relatives and reported that relatives did not pursue additional testing or care. Conclusion: Our results suggest that disclosure of SFs shows little to no adverse impact on participants and adds only modestly to near-term health-care costs; additional studies are needed to confirm these findings.

Original languageEnglish (US)
Pages (from-to)1100-1110
Number of pages11
JournalGenetics in Medicine
Volume21
Issue number5
DOIs
StatePublished - May 1 2019

Keywords

  • genomic sequencing
  • health-care resource utilization
  • secondary findings

ASJC Scopus subject areas

  • Genetics(clinical)

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    Hart, M. R., Biesecker, B. B., Blout, C. L., Christensen, K. D., Amendola, L. M., Bergstrom, K. L., Biswas, S., Bowling, K. M., Brothers, K. B., Conlin, L. K., Cooper, G. M., Dulik, M. C., East, K. M., Everett, J. N., Finnila, C. R., Ghazani, A. A., Gilmore, M. J., Goddard, K. A. B., Jarvik, G. P., ... Hindorff, L. A. (2019). Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genetics in Medicine, 21(5), 1100-1110. https://doi.org/10.1038/s41436-018-0308-x