Ethical issues arising from the participation of children in genetic research

https://doi.org/10.1016/j.jpeds.2006.04.049Get rights and content

With new tools derived from the Human Genome Project, genetic research is expanding from the study of rare, single gene disorders to the evaluation of genetic contributors to common, complex diseases. Many genetic studies include pediatric participants. The ethical concerns related to pediatric participation in genetic research derive from the study designs commonly employed in gene discovery and from the power accorded to genetic prediction in our society. In both family-based studies and large studies combining genetic and other health-related data, special attention should be placed on recruitment procedures, informed consent, and confidentiality protections. If data repositories are created for long-term use, we recommend re-consent of pediatric participants when they reach adulthood. In addition, the potential for disclosure of individual results should be considered as part of the institutional review of genetic studies, taking into account the validity of research data and the potential that such data could be used in health care. The potential for genetic results to pose harms of personal and group stigma is also a consideration. Because genetic information is often accorded special power in our society, careful attention should be paid to how genetic information is collected and used in research involving pediatric participants.

Section snippets

Genetics as a predictor of the future

Genetics is commonly cited as the source of powerful information about the future. Common metaphors for the human genome—a “blueprint,”1 an “instruction book,”2 a “future diary,”3—support this vision, leading to a “DNA mystique” that makes an exaggerated claim for the role of genetics in determining a person’s health and life experience.4 Similarly, gene-disease associations are often reported in a way that suggests genetic determinism—as in the report, for example, of the discovery of “the

Gene discovery

As would be expected from the public discussion, much genetic research is focused on the identification of genetic contributors to health and disease. This research rarely provides therapeutic benefit in itself, but it may have important predictive and therapeutic implications. An example is the retrospective analysis of clinical trial data on childhood acute lymphoblastic leukemia to assess the relationship between thiopurine methyltransferase (TPMT) level and bone marrow toxicity.11 Low

Personal and group stigma

One of the concerns often expressed about genetic information is the potential that the identification of a genetic predisposition could result in stigma. This concern may be greatest for genetic risks related to psychiatric problems or undesirable behaviors.24 An example illustrates some of the questions raised by behavioral genetic studies. A prospective follow-up of a birth cohort initially enrolled at 3 years of age most recently reported follow-up at 26 years of age, when a DNA sample was

Providing results to participants

Unless a study procedure or test is proven to be valid, and knowledge of the result would allow a therapeutic opportunity of demonstrated benefit, researchers have traditionally not provided participants with personal results of tests done exclusively for study purposes. Instead, participants learn about study outcomes through reports or publication of aggregate data. This approach reflects a societal understanding, incorporated into the informed consent process, that most biomedical research

Conclusions

None of the ethical concerns that arise in pediatric genetic research are unique. However, certain concerns are more common in genetic research because of the study designs used for gene discovery. In addition, the power often accorded to genetic information in our society generates additional concern when a research study involves collection of genetic information.

Both family-based studies and large population-based studies incorporating genetic data pose challenges to the informed consent

References (39)

  • D. Nelkin et al.

    The DNA MystiqueThe Gene as a Cultural Icon

    (1995)
  • University of Toronto. Researchers isolate gene for Crohn’s disease. Available online at:...
  • G. Geller et al.

    The media and public reaction to genetic research

    JAMA

    (2002)
  • T.H. Murray

    Genetic exceptionalism and “future diaries”is genetic information different from other medical information?

  • E. Jeungst

    The ethics of predictiongenetic risk and the physician-patient relationship

    Genome Science Tech

    (1995)
  • Comments by Dr. Francis S. Collins Regarding the Passage of Genetic Information Nondiscrimination Act of 2005 (S. 306)....
  • M.V. Relling et al.

    Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus

    JNCI

    (1999)
  • W. Burke

    Genomics as probe for disease biology

    New Engl J Med

    (2003)
  • L.M. Beskow et al.

    Ethical issues in identifying and recruiting participants for familial genetic research

    Am J Med Genet

    (2004)
  • Cited by (53)

    • Ethical review of biobank research: Should RECs review each release of material from biobanks operating under an already-approved broad consent and data protection model?

      2015, European Journal of Medical Genetics
      Citation Excerpt :

      C) Stigmatisation and intercultural competence: Genetic analysis is a common component of biobank research. Some results, even some research questions in the context of genetics, have the potential to stigmatise certain groups of people or violate their cultural values (Harmon, 2010; Shaw et al., 2013; Burke and Diekema, 2006). Accordingly, specific precautionary measures may be required to avoid burdens on those people directly or indirectly affected, insofar as this is possible, even if these associated effects were not intended by the researchers.

    • The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository

      2012, Genetics in Medicine
      Citation Excerpt :

      In addition, there is a concern that the return of IRRs blurs the distinction between research and clinical care and may elicit a therapeutic or diagnostic misconception among participants.7 Opinions about the involvement of children in large-cohort genetic studies are mixed, and both public opinion studies and professional editorials raise a number of ethical concerns,8,9,10,11 which center around the child’s transition from partial to full autonomy. Issues include the need to obtain meaningful assent from minors, and full informed consent when the child turns 18 years of age, in order to ensure their continued participation in the study.

    • IRB perspectives on the return of individual results from genomic research

      2012, Genetics in Medicine
      Citation Excerpt :

      Research is meant to benefit society, not the individual research subject. Yet, in our study, and in society today, “a special power was associated with genomic information.”39 Our respondents expected that genomic or genetic studies would provide important clinical information for the research participant.

    View all citing articles on Scopus

    Supported in part by the University of Washington NHGRI sponsored Center for Genomics and Healthcare Equality Grant #: NHGRI P50HG03374.

    View full text