Participant choices for return of genomic results in the eMERGE Network

被引：28

作者：

Hoell, Christin ^{[1
]}

Wynn, Julia ^{[2
]}

Rasmussen, Luke, V ^{[1
]}

Marsolo, Keith ^{[3
,4
]}

Aufox, Sharon A. ^{[1
]}

Chung, Wendy K. ^{[2
]}

Connolly, John J. ^{[5
]}

Freimuth, Robert R. ^{[6
]}

Kochan, David ^{[7
]}

Hakonarson, Hakon ^{[5
,8
]}

Harr, Margaret ^{[5
]}

Holm, Ingrid A. ^{[9
,10
,11
]}

Kullo, Iftikhar J. ^{[7
]}

Lammers, Philip E. ^{[12
]}

Leppig, Kathleen A. ^{[13
]}

Leslie, Nancy D. ^{[14
,15
]}

Myers, Melanie F. ^{[14
,15
]}

Sharp, Richard R. ^{[16
]}

Smith, Maureen E. ^{[1
]}

Prows, Cynthia A. ^{[17
]}

机构：

[1] Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA

[2] Columbia Univ, Irving Med Ctr, New York, NY USA

[3] Duke Univ, Sch Med, Dept Populat Hlth Sci, Durham, NC USA

[4] Duke Univ, Sch Med, Duke Clin Res Inst, Durham, NC USA

[5] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

[6] Mayo Clin, Dept Hlth Sci Res, Ctr Individualized Med, Rochester, MN USA

[7] Mayo Clin, Dept Cardiovasc Med, Rochester, MN USA

[8] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA

[9] Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA

[10] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA USA

[11] Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA

[12] Meharry Med Coll, Nashville, TN 37208 USA

[13] Kaiser Permanente Washington, Genet Serv, Seattle, WA USA

[14] Univ Cincinnati, Cincinnati Childrens Hosp, Div Human Genet, Cincinnati, OH USA

[15] Univ Cincinnati, Coll Med, Cincinnati, OH USA

[16] Mayo Clin, Biomed Eth Res Program, Rochester, MN USA

[17] Cincinnati Childrens Hosp, Div Human Genet & Patient Serv, Cincinnati, OH 45229 USA

来源：

GENETICS IN MEDICINE | 2020年 / 22卷 / 11期

关键词：

secondary findings; genetic testing; preferences; disclosure; genetic research results; INCIDENTAL FINDINGS; SECONDARY FINDINGS; WHOLE-GENOME; CLINICAL EXOME; PATIENTS VIEWS; INDIVIDUALS; PREFERENCES; DISCLOSURE; DECISIONS; ATTITUDES;

D O I：

10.1038/s41436-020-0905-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose Secondary findings are typically offered in an all or none fashion when sequencing is used for clinical purposes. This study aims to describe the process of offering categorical and granular choices for results in a large research consortium. Methods Within the third phase of the electronic MEdical Records and GEnomics (eMERGE) Network, several sites implemented studies that allowed participants to choose the type of results they wanted to receive from a multigene sequencing panel. Sites were surveyed to capture the details of the implementation protocols and results of these choices. Results Across the ten eMERGE sites, 4664 participants including adolescents and adults were offered some type of choice. Categories of choices offered and methods for selecting categories varied. Most participants (94.5%) chose to learn all genetic results, while 5.5% chose subsets of results. Several sites allowed participants to change their choices at various time points, and 0.5% of participants made changes. Conclusion Offering choices that include learning some results is important and should be a dynamic process to allow for changes in scientific knowledge, participant age group, and individual preference.

引用

页码：1821 / 1829

页数：9

共 40 条

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