Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (vol 21, pg 1100, 2019)

被引：3

作者：

Hart, M. Ragan ^{[1
,2
]}

Biesecker, Barbara B. ^{[3
]}

Blout, Carrie L. ^{[4
]}

Christensen, Kurt D. ^{[4
,5
]}

Amendola, Laura M. ^{[1
,2
]}

Bergstrom, Katie L. ^{[6
]}

Biswas, Sawona ^{[7
]}

Bowling, Kevin M. ^{[8
]}

Brothers, Kyle B. ^{[9
]}

Conlin, Laura K. ^{[10
,11
]}

Cooper, Greg M. ^{[8
]}

Dulik, Matthew C. ^{[10
,11
]}

East, Kelly M. ^{[8
]}

Everett, Jessica N. ^{[12
,13
]}

Finnila, Candice R. ^{[8
]}

Ghazani, Arezou A. ^{[14
]}

Gilmore, Marian J. ^{[15
]}

Goddard, Katrina A. B. ^{[16
]}

Jarvik, Gail P. ^{[1
,2
]}

Johnston, Jennifer J. ^{[17
]}

Kauffman, Tia L. ^{[16
]}

Kelley, Whitley V. ^{[8
]}

Krier, Joel B. ^{[4
]}

Lewis, Katie L. ^{[17
]}

McGuire, Amy L. ^{[18
]}

McMullen, Carmit ^{[16
]}

Ou, Jeffrey ^{[2
]}

Plon, Sharon E. ^{[6
]}

Rehm, Heidi L. ^{[5
,19
,20
]}

Richards, C. Sue ^{[21
]}

Romasko, Edward J. ^{[10
]}

Sagardia, Ane Miren ^{[3
]}

Spinner, Nancy B. ^{[10
]}

Thompson, Michelle L. ^{[8
]}

Turbitt, Erin ^{[3
]}

Vassy, Jason L. ^{[4
,5
,22
]}

Wilfond, Benjamin S. ^{[23
,24
]}

Veenstra, David L. ^{[2
,25
]}

Berg, Jonathan S. ^{[26
]}

Green, Robert C. ^{[4
,5
,20
,27
]}

Biesecker, Leslie G. ^{[17
]}

Hindorff, Lucia A. ^{[28
]}

机构：

[1] Univ Washington, Dept Med Med Genet, Seattle, WA 98195 USA

[2] Univ Washington, Clin Sequencing Exploratory Res Coordinating Ctr, Seattle, WA 98195 USA

[3] NHGRI, Social & Behav Res Branch, NIH, Bethesda, MD 20892 USA

[4] Brigham & Womens Hosp, Dept Med, Div Genet, 75 Francis St, Boston, MA 02115 USA

[5] Harvard Med Sch, Boston, MA 02115 USA

[6] Baylor Coll Med, Dept Pediat, Oncol Sect, Houston, TX 77030 USA

[7] Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA

[8] HudsonAlpha Inst Biotechnol, Huntsville, AL USA

[9] Univ Louisville, Dept Pediat, Louisville, KY 40292 USA

[10] Childrens Hosp, Div Genom Diagnost, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA

[11] Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA USA

[12] Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA

[13] Univ Michigan, Michigan Ctr Translat Pathol, Ann Arbor, MI 48109 USA

[14] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[15] Kaiser Permanente Northwest, Dept Med Genet, Portland, OR USA

[16] Kaiser Permanente Northwest, Ctr Hlth Res, Portland, OR USA

[17] NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA

[18] Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA

[19] Partners HealthCare, Mol Med Lab, Cambridge, MA USA

[20] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[21] Oregon Hlth & Sci Univ, Knight Diagnost Labs, Portland, OR USA

[22] VA Boston Healthcare Syst, Boston, MA USA

[23] Univ Washington, Dept Pediat, Seattle, WA 98195 USA

[24] Univ Washington, Seattle Childrens Res Inst, Seattle, WA 98195 USA

[25] Univ Washington, Dept Pharm, Seattle, WA 98195 USA

[26] Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA

[27] Partners Personalized Med, Boston, MA USA

[28] NHGRI, Div Genom Med, NIH, Bethesda, MD 20892 USA

来源：

GENETICS IN MEDICINE | 2019年 / 21卷 / 05期

关键词：

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

D O I：

10.1038/s41436-019-0440-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. © 2018, American College of Medical Genetics and Genomics.

引用

页码：1261 / 1262

页数：2

共 2 条

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[2] Health-care costs over 15 years after bariatric surgery for patients with different baseline glucose status: results from the Swedish Obese Subjects study (vol 3, pg 855, 2015)
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