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Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants

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Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters Citation Fabsitz, R., Richard, Mcguire, R., Amy, Sharp, M., Richard, Puggal, G., Mona, Beskow, Gonzalez, Laura, Biesecker, Wright, Leslie, Bookman, H., Ebony, Burke, V., Wylie, Burchard, M., Esteban, Church, P., George, Clayton, R., Ellen, Eckfeldt, Pearl, John, Fernandez, Lyman, Conrad, Fisher, D., Rebecca, Fullerton, R., Stephanie, Gabriel, K.F., Stacey, Gachupin, V., Francine, James, M., Cynthia, Jarvik, L., Gail, Kittles, L., Rick, Leib, L., Jennifer, Oʼdonnell, L., Christopher, Oʼrourke, L., P., Rodriguez, L., Laura, Schully, L., Sheri, Shuldiner, L., Alan, Sze, L., Rebecca, Thakuria, L., Joseph, Wolf, L., Susan, and Burke, L., Gregory. 2010. Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants: Updated Guidelines From a National Heart, Lung, and Blood Institute Working Group." Circulation: Cardiovascular Genetics 3, no. 6: 574-80. Citable link http://nrs.harvard.edu/urn-3:HUL.InstRepos:42667837 Terms of Use This article was downloaded from Harvard University’s DASH repository, and is made available under the terms and conditions applicable to Open Access Policy Articles, as set forth at http:// nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of- use#OAP NIH Public Access Author Manuscript Circ Cardiovasc Genet. Author manuscript; available in PMC 2011 December 1. NIH-PA Author ManuscriptPublished NIH-PA Author Manuscript in final edited NIH-PA Author Manuscript form as: Circ Cardiovasc Genet. 2010 December 1; 3(6): 574±580. doi:10.1161/CIRCGENETICS.110.958827. Ethical and Practical Guidelines for Reporting Genetic Research Results To Study Participants: Updated Guidelines from an NHLBI Working Group Richard R. Fabsitz, PhD1, Amy McGuire, JD, PhD2, Richard R. Sharp, PhD3, Mona Puggal, MPH1, Laura M. Beskow, PhD, MPH4, Leslie G. Biesecker, MD5, Ebony Bookman, PhD, MSGC6, Wylie Burke, MD, PhD7, Esteban Gonzalez Burchard, MD, MPH8, George Church, PhD9, Ellen Wright Clayton, MD, JD10, John H. Eckfeldt, MD, PhD11, Conrad V. Fernandez, MD12, Rebecca Fisher, MLIS13, Stephanie M. Fullerton, PhD7, Stacey Gabriel, PhD14, Francine Gachupin, PhD, MPH15, Cynthia James, PhD16, Gail P. Jarvik, MD, PhD17, Rick Kittles, PhD18, Jennifer R. Leib, ScM, CGC19, Christopher O’Donnell, MD20, P. Pearl O'Rourke, MD21, Laura Lyman Rodriguez, PhD22, Sheri D. Schully, PhD23, Alan R. Shuldiner, MD24, Rebecca K.F. Sze, FNP, MSN, MPA25, Joseph V. Thakuria, PhD26, Susan M. Wolf, JD27, and Gregory L. Burke, MD, MSc28 1Division of Cardiovascular Sciences, NHLBI, Bethesda, MD 2Ctr for Medical Ethics & Health Policy, Baylor College of Med, Houston, TX 3Dept of Bioethics, Cleveland Clinic, Cleveland, OH 4Duke Inst for Genome Sciences & Policy, Duke Univ, Durham, NC 5Genetic Diseases Research Branch, Nat Human Genome Research Inst, Bethesda, MD 6Office of Population Genomics, Nat Human Genome Research Inst, Bethesda, MD 7Dept of Bioethics & Humanities, Univ of Washington, Seattle, WA 8Pulmonary & Critical Care Division, Univ of California San Francisco, San Francisco, CA 9Dept of Genetics, Harvard Med School, Boston, MA 10Ctr for Biomedical Ethics & Society, Vanderbilt Univ School of Law, Nashville, TN 11Dept of Laboratory Med & Pathology, Univ of Minnesota, Minneapolis, MN 12IWK Health Ctr, Dept of Pediatrics, Dalhousie Univ, Halifax, Nova Scotia, Canada 13Patient Advocate, Oakton, VA 14Genetic Analysis Platform, Broad Inst, Boston, MA Corresponding author: Richard R. Fabsitz, Ph.D., Deputy Chief, Epidemiology Branch, Rockledge II Bldg, Room 10204, 6701 Rockledge Drive, MSC 7935, Bethesda, MD 20892, Phone: (301) 435-0458, Fax: (301) 480-0455, [email protected]. Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. Conflict of Interest Disclosures: Leslie G. Biesecker, MD: Serve as an uncompensated advisor to the Illumina Corporation, which is part of my official duties as an NIH employee and this activity is in compliance with NIH conflict of interest rules. George Church, PhD: http://arep.med.harvard.edu/gmc/tech.html, in particular Knome Inc. which develops and sells software and service for "Reporting Genetic Research Results To Study Participants" Jennifer R. Leib, ScM, CGC: Vice-President HealthFutures, LLC specializing in personalized and preventive medicine Fabsitz et al. Page 2 15Southwest Tribal Epidemiology Ctr, Albuquerque, NM 16Division of Med/Cardio, Johns Hopkins Univ, Baltimore, MD NIH-PA Author Manuscript NIH-PA Author Manuscript NIH-PA Author Manuscript 17Division of Med Genetics, Univ of Washington School of Med, Seattle, WA 18College of Med, Univ of Illinois Chicago, Chicago, IL 19Health Futures, LLC, Washington DC 20Framingham Heart Study, NHLBI, Framingham, MA 21Health Research Affairs, Partners Health Care System, Inc., Boston, MA 22Office of Policy, Communications & Education, Nat Human Genome Research Inst, Bethesda, MD 23Epidemiology & Genetic Research Program, Nat Cancer Inst, Bethesda, MD 24Division of Endocrinology, Diabetes & Nutrition, Univ of Maryland School of Med, Baltimore, MD 25Charles B. Wang Community Health Ctr, New York, NY 26Harvard Catalyst, Boston, MA 27School of Law; School of Med; Ctr for Bioethics; Consortium on Law and Value in Health, Environment & the Life Sciences, Univ of Minnesota, Minneapolis, MN 28Division of Public Health Sciences, Wake Forest Univ School of Med, Winston-Salem, NC Abstract In January 2009 the National Heart, Lung, and Blood Institute (NHLBI) convened a 28-member multidisciplinary Working Group to update the recommendations of a 2004 NHLBI Working Group focused on Guidelines to the Return of Genetic Research Results. Changes in the genetic and societal landscape over the intervening five years raise multiple questions and challenges. The group noted the complex issues arising from the fact that the technologic and bioinformatic progress has made it possible to obtain considerable information on individuals which would not have been possible a decade ago. While unable to reach consensus on a number of issues, the Working Group produced five recommendations. The Working Group offers two 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 IRBs, 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. Keywords consent genetics; ethics; research genetics; risk rediction; single nucleotide polymorphism genetics Circ Cardiovasc Genet. Author manuscript; available in PMC 2011 December 1. Fabsitz et al. Page 3 Introduction In 2004, the National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group NIH-PA Author Manuscript NIH-PA Author Manuscript NIH-PA Author Manuscript that led to the publication of a conference report and recommendations on returning genetic research results to research participants 1. In the intervening period the world of genetics has changed dramatically 2–4. High-throughput technologies have been developed, whole genome sequencing is a reality, additional “omics” measures are now available, and wide data sharing among investigators is expected. Individual genetic results and incidental findings are now distinguished from aggregate results. The appropriateness of returning aggregate results to participants in studies is generally supported in the scientific community, although mechanisms for implementing this process are poorly developed. However, debate continues over when, how and who should return individual results 5–22 to participants. Researchers are finding that many study participants wish to receive individual research results 23–25 and direct-to-consumer (DTC) companies are making genotyping available to consumers at steadily decreasing prices 26, 27, with widely variable interpretations of the implications of those individual data. It thus became clear that the recommendations of the 2004 Working Group needed to be reexamined to reflect this rapidly changing landscape. Methods An NHLBI planning
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