This paper was published with
modifications in JAMA,
November 2001
Informed Consent for
Population-Based Research Involving Genetics
Authors:
Laura M. Beskow, MPH, Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, and The
University of North Carolina at Chapel Hill School of Public Health
Wylie Burke, MD, PhD, Department of Medical
History and Ethics, University of Washington
Jon F. Merz, MBA, JD, PhD, Center for
Bioethics, University of Pennsylvania
Patricia A. Barr, formerly of Barr,
Sternberg, Moss, Lawrence, Silver and Saltonstall, PC
Sharon Terry, MA, Genetic Alliance and PXE
International, Inc.
Victor B. Penchaszadeh, MD, MSPH, Division of
Medical Genetics, Beth Israel Medical Center
Lawrence O. Gostin, JD, Center for Law and the
Public's Health, Georgetown University
and Johns Hopkins University
Marta Gwinn, MD, MPH, Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention
Muin J. Khoury, MD, PhD, Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention
Corresponding Author:
Laura Beskow, c/o Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, 4770 Buford
Highway NE, Mailstop K-89, Atlanta, GA 30341-3724, tel: 770-488-3235, fax:
770-488-3236; email: laura_beskow@unc.edu
The following materials accompany the article,
"Informed Consent for Population-Based Research Involving Genetics,"
which appears in the November 14, 2001 issue of JAMA.
If you are a JAMA subscriber, you can
click here to log on to their Web
site and view the full text of the article.
If you are not a JAMA subscriber,
please be aware that the article contains important information about the
rationale for each section of the informed consent template, including the
types of research for which it may and may not be appropriate. This
informed consent approach is based on federal policy for the protection of
human research participants and a number of other sources as cited in the
article. It follows closely the document "Consent
for CDC Research: A Reference for Developing Consent Forms and Oral Scripts"
and the National Bioethics Advisory Commission's report and recommendations
on "Research
Involving Human Biological Materials: Ethical Issues and Policy Guidance."
This informed consent approach is provided to promote discussion and the
language in the template must be modified to address the specific issues
that arise within any individual study.
Bridging the gap between gene discovery and our
ability to use genetic information to benefit health requires population-based
knowledge about the contribution of common gene variants and gene-environment
interactions to the risk of disease. The risks and benefits associated
with population-based research involving genetics, especially lower-penetrance
gene variants, can differ in nature from those associated with family-based
research. In response to the urgent need for appropriate guidelines, the
Centers for Disease Control and Prevention formed a multidisciplinary group to
develop an informed consent approach for integrating genetic variation into
population-based research. The group used expert opinion and federal
regulations, the National Bioethics Advisory Commission’s report on research
involving human biological materials, existing consent forms, and literature on
informed consent to create suggested language for informed consent documents and
a supplemental brochure. This language reflects the premise that the
probability and magnitude of harm--as well as possible personal benefits--are
directly related to the meaning of the results for the health of the participant
and that appropriate disclosures and processes for obtaining consent should be
based on an assessment at the outset of the likelihood that the results will
generate information that could lead directly to an evidence-based intervention.
This informed consent approach is proposed to promote discussion about how best
to enable potential participants to make informed decisions about
population-based research involving genetics and to suggest issues for
consideration by research sponsors, institutional review boards, and
investigators.