@article{235d79f2e37549c195f6b7540baf90bf,
title = "Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study",
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.",
keywords = "genomic sequencing, health-care resource utilization, secondary findings",
author = "Hart, {M. Ragan} and Biesecker, {Barbara B.} and Blout, {Carrie L.} and Christensen, {Kurt D.} and Amendola, {Laura M.} and Bergstrom, {Katie L.} and Sawona Biswas and Bowling, {Kevin M.} and Brothers, {Kyle B.} and Conlin, {Laura K.} and Cooper, {Greg M.} and Dulik, {Matthew C.} and East, {Kelly M.} and Everett, {Jessica N.} and Finnila, {Candice R.} and Ghazani, {Arezou A.} and Gilmore, {Marian J.} and Goddard, {Katrina A.B.} and Jarvik, {Gail P.} and Johnston, {Jennifer J.} and Kauffman, {Tia L.} and Kelley, {Whitley V.} and Krier, {Joel B.} and Lewis, {Katie L.} and McGuire, {Amy L.} and Carmit McMullen and Jeffrey Ou and Plon, {Sharon E.} and Rehm, {Heidi L.} and Richards, {C. Sue} and Romasko, {Edward J.} and {Miren Sagardia}, Ane and Spinner, {Nancy B.} and Thompson, {Michelle L.} and Erin Turbitt and Vassy, {Jason L.} and Wilfond, {Benjamin S.} and Veenstra, {David L.} and Berg, {Jonathan S.} and Green, {Robert C.} and Biesecker, {Leslie G.} and Hindorff, {Lucia A.}",
note = "Funding Information: The National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI) funded the CSER Consortium: CSER Coordinating Center U01HG007307; NEXT Medicine U01HG006507; BASIC3 U01HG006485; MedSeq U0 1HG006500; NextGen UM1HG007292; PediSeq U01HG0065 46; HudsonAlpha U01HG007301; DFCI U01 HG006492, NCGE NES U01HG006487; ZIAHG200359 09 and ZIAHG200387 04 from the Intramural Research Program of the NHGRI support ClinSeq{\textregistered}. R.C.G. was supported by U01HG006500, R01-CA154517, R01-AG047866, and funding from the Broad Institute and Department of Defense. J.L.V. is employed by the US Department of Veterans Affairs (VA) and supported by IK2-CX001262 from the VA Office of Research & Development. K.D.C. was supported by K01-HG009173. The views expressed here do not necessarily reflect those of the US Government or VA. We acknowledge Julia Fekecs and Melpi Kasapi for technical and logistical assistance. Publisher Copyright: {\textcopyright} 2018, American College of Medical Genetics and Genomics.",
year = "2019",
month = may,
day = "1",
doi = "10.1038/s41436-018-0308-x",
language = "English (US)",
volume = "21",
pages = "1100--1110",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "5",
}