Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants Updated Guidelines From a National Heart, Lung, and Blood Institute Working Group

被引：283

作者：

Fabsitz, Richard R. ^{[26
]}

McGuire, Amy ^{[1
]}

Sharp, Richard R. ^{[2
]}

Puggal, Mona

Beskow, Laura M. ^{[3
]}

Biesecker, Leslie G. ^{[4
]}

Bookman, Ebony ^{[5
]}

Burke, Wylie ^{[6
]}

Burchard, Esteban Gonzalez ^{[7
]}

Church, George ^{[8
]}

Clayton, Ellen Wright ^{[9
]}

Eckfeldt, John H. ^{[10
]}

Fernandez, Conrad V. ^{[11
]}

Fisher, Rebecca

Fullerton, Stephanie M. ^{[6
]}

Gabriel, Stacey ^{[12
]}

Gachupin, Francine ^{[13
]}

James, Cynthia ^{[14
]}

Jarvik, Gail P. ^{[15
]}

Kittles, Rick ^{[16
]}

Leib, Jennifer R. ^{[17
]}

O'Donnell, Christopher ^{[18
]}

O'Rourke, P. Pearl ^{[19
]}

Rodriguez, Laura Lyman ^{[20
]}

Schully, Sheri D. ^{[21
]}

Shuldiner, Alan R. ^{[22
]}

Sze, Rebecca K. F. ^{[23
]}

Thakuria, Joseph V.

Wolf, Susan M. ^{[24
]}

Burke, Gregory L. ^{[25
]}

机构：

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

[2] Cleveland Clin, Dept Bioeth, Cleveland, OH 44106 USA

[3] Duke Univ, Duke Inst Genome Sci & Policy, Durham, NC USA

[4] NHGRI, Genet Dis Res Branch, Bethesda, MD 20892 USA

[5] NHGRI, Off Populat Genom, Bethesda, MD 20892 USA

[6] Univ Washington, Dept Bioeth & Humanities, Seattle, WA 98195 USA

[7] Univ Calif San Francisco, Pulm & Crit Care Div, San Francisco, CA 94143 USA

[8] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA

[9] Vanderbilt Univ, Sch Law, Ctr Biomed Eth & Soc, Nashville, TN 37240 USA

[10] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA

[11] Dalhousie Univ, Dept Pediat, IWK Hlth Ctr, Halifax, NS, Canada

[12] Broad Inst, Boston, MA USA

[13] SW Tribal Epidemiol Ctr, Albuquerque, NM USA

[14] Johns Hopkins Univ, Div Med Cardiol, Baltimore, MD USA

[15] Univ Washington, Div Med Genet, Sch Med, Seattle, WA 98195 USA

[16] Univ Illinois, Coll Med, Chicago, IL USA

[17] Hlth Futures LLC, Washington, DC USA

[18] NHLBI, Framingham Heart Study, Framingham, MA USA

[19] Partners Hlth Care Syst Inc, Hlth Res Affairs, Boston, MA USA

[20] NHGRI, Off Policy Commun & Educ, Bethesda, MD 20892 USA

[21] NCI, Epidemiol & Genet Res Program, Bethesda, MD 20892 USA

[22] Univ Maryland, Sch Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA

[23] Charles B Wang Community Hlth Ctr, New York, NY USA

[24] Univ Minnesota, Sch Law, Sch Med, Ctr Bioeth,Consortium Law & Value Hlth Environm &, Minneapolis, MN 55455 USA

[25] Wake Forest Univ, Bowman Gray Sch Med, Div Publ Hlth Sci, Winston Salem, NC USA

[26] NHLBI, Epidemiol Branch, Div Cardiovasc Sci, Bethesda, MD 20892 USA

来源：

CIRCULATION-CARDIOVASCULAR GENETICS | 2010年 / 3卷 / 06期

关键词：

consent; genetics; ethics; research genetics; risk prediction; single-nucleotide polymorphism genetics; INCIDENTAL FINDINGS; DISCLOSURE; RETURN; LEGAL; DUTY;

D O I：

10.1161/CIRCGENETICS.110.958827

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In January 2009, the National Heart, Lung, and Blood Institute convened a 28-member multidisciplinary Working Group to update the recommendations of a 2004 National Heart, Lung, and Blood Institute Working Group focused on Guidelines to the Return of Genetic Research Results. Changes in the genetic and societal landscape over the intervening 5 years raise multiple questions and challenges. The group noted the complex issues arising from the fact that technological and bioinformatic progress has made it possible to obtain considerable information on individuals that would not have been possible a decade ago. Although unable to reach consensus on a number of issues, the working group produced 5 recommendations. The working group offers 2 recommendations addressing the criteria necessary to determine when genetic results should and may be returned to study participants, respectively. In addition, it suggests that a time limit be established to limit the duration of obligation of investigators to return genetic research results. The group recommends the creation of a central body, or bodies, to provide guidance on when genetic research results are associated with sufficient risk and have established clinical utility to justify their return to study participants. The final recommendation urges investigators to engage the broader community when dealing with identifiable communities to advise them on the return of aggregate and individual research results. Creation of an entity charged to provide guidance to institutional review boards, investigators, research institutions, and research sponsors would provide rigorous review of available data, promote standardization of study policies regarding return of genetic research results, and enable investigators and study participants to clarify and share expectations for the handling of this increasingly valuable information with appropriate respect for the rights and needs of participants. (Circ Cardiovasc Genet. 2010;3:574-580.)

引用

页码：574 / 580

页数：7

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