Invited Comment

Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research†‡

  1. Holly K. Tabor1,2,*,
  2. Benjamin E. Berkman3,4,
  3. Sara Chandros Hull3,4,
  4. Michael J. Bamshad1,5,*

Article first published online: 28 OCT 2011

DOI: 10.1002/ajmg.a.34357

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 155, Issue 12, pages 2916–2924, December 2011

Additional Information

How to Cite

Tabor, H. K., Berkman, B. E., Hull, S. C. and Bamshad, M. J. (2011), Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research. Am. J. Med. Genet., 155: 2916–2924. doi: 10.1002/ajmg.a.34357

Author Information

  1. 1

    Department of Pediatrics, University of Washington, Seattle, Washington

  2. 2

    Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital, Seattle, Washington

  3. 3

    Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, Maryland

  4. 4

    Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

  5. 5

    Department of Genome Sciences, University of Washington, Seattle, Washington

*Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital, 1900 Ninth Ave, M/S C9S-6, Seattle, WA 98101.

  1. †

    The opinions expressed in this article are those of the authors. No statement in this article should be construed as an official position of the National Human Genome Research Institute, National Institutes of Health, or Department of Health and Human Services

  2. ‡

    How to Cite this Article: Tabor HK, Berkman BE, Hull SC, Bamshad MJ. 2011. Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research. Am J Med Genet Part A 155: 2916–2924.

Publication History

  1. Issue published online: 21 NOV 2011
  2. Article first published online: 28 OCT 2011
  3. Manuscript Accepted: 25 SEP 2011
  4. Manuscript Received: 3 MAY 2011

Funded by

  • National Institutes of Health/National Human Genome Research Institute. Grant Number: 5R00HG004316-04
  • NIH. Grant Number: 1R01HG006618-01
  • National Institutes of Health/National Human Genome Research Institute. Grant Number: 5P50HG003374-07
  • National Institutes of Health/National Center for Research Resources 1UL1 RR025014
  • Intramural Research Program of the National Human Genome Research Institute
  • National Institutes of Health

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Keywords:

  • whole genome sequencing;
  • exome sequencing;
  • ethics;
  • informed consent;
  • return of results;
  • information dissemination;
  • privacy;
  • data sharing;
  • confidentiality

Abstract

Exome sequencing (ES) and whole genome sequencing (WGS) putatively identify all adverse functional alleles of protein-coding genes. Accordingly, while ES/WGS are transformative new tools for gene discovery in human and medical genetics research, they also generate new manifestations of ethical issues related to the consent process, data sharing, and return of results. These manifestations have yet to be comprehensively framed, due in part to the rapidity with which new technologies for ES/WGS are being applied and because of a lack of empirical data to provide guidance. Accordingly, researchers, funding agencies, and policy makers have largely dealt with these issues intuitively. We explain how use of ES/WGS challenges: (i) models under which informed consent is typically obtained; (ii) how harms associated with data sharing are considered; and (iii) the nature of obligations surrounding unanticipated findings. We provide broad guidance about interim ways to contend with these issues and make broad recommendations for areas for novel resource and policy development. © 2011 Wiley Periodicals, Inc.

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