There is general agreement that parents should have access to their children’s genetic and medical test results during future large-cohort studies on the roles of genes and environment in disease, according to a recent series of focus groups conducted by the Genetics and Public Policy Center with collaborators. However, there is no consensus on how – or even whether – children should be included in such studies: Participants expressed very different views on issues including how to minimize burdens on young research subjects, whether children would benefit, and at what age research subjects could be expected to make a truly informed decision about their participation.

The Center conducted 15 focus groups in six cities (Philadelphia and Middletown, Pennsylvania; Phoenix, Arizona; Kansas City, Missouri; Jackson, Mississippi; and Portland, Oregon) in spring 2007 as part of its Public Consultation Project on Genetics, Environment, and Health. The project, funded by the National Human Genome Research Institute, seeks to understand what Americans think about large-scale, long-term gene-environment studies, and under what conditions they might participate in such research. The focus groups were the first stage in a project that also includes a nationwide survey, community leader interviews, and town hall meetings; focus group results pertaining to children appear in this month’s special issue of the American Journal of Medical Genetics Part C (Seminars in Medical Genetics).

The focus groups, which took place in different areas of the country, were designed to reflect diversity in age, gender, race and ethnicity, income, and exposure to known environmental risk factors. Each focus group was shown a short video explaining a proposed large-cohort study on genes and the environment, then led through a discussion of the study by a moderator. Among other questions, the moderators asked “whether it would be acceptable to include children in such a study, whether there were categories of children that should not be recruited, and what ethical issues would be raised by the inclusion of children in such research,” explain the authors, led by the Center’s David Kaufman.

“Focus group members were very concerned about ensuring that children would not participate in the cohort study against their will,” the authors observe. Some thought that “children would not understand the goals or implications of the study, the nature of the genotypic data, or what a 10-year commitment involves,” and should therefore not be included at all. Focus group participants who believed children should be included differed on whether a parent’s consent was sufficient, or whether the child’s assent also should be required. Participants had wide-ranging opinions regarding the age (or maturity level) at which minors should be able to decide on their own whether to join (or remain in) the study. Many participants said that the study would need to be flexible in order to adjust to the changing maturity levels of its younger subjects.

Some focus group members felt that exposing children to unnecessary fear was a significant risk of including children in the proposed study, and suggested that a child’s own pediatrician perform the study exam, or that children’s participation be limited to minimally invasive procedures. Others said that their own children were simply too busy to participate in such a study. Possible genetic discrimination also was mentioned as a risk to minors as study participants. Opinions were mixed about whether participating would benefit children, or provide useful data.

The subject of children came up again in some of the focus groups during a discussion of return of individual participants’ research results. Several focus group members said that many or most children would likely reach an age during the ten-year study where they would be ready to receive their own results. However, few were concerned about children’s privacy being violated if parents received a child’s results, the authors observe. “When focus group members spoke about access to children’s results, nearly all believed that parents should have the right to know about information pertaining to their children, particularly if the information implied that a child was facing some immediate risk.”

With the exception of the privacy issue, focus group members’ opinions tended to mirror that of researchers and policymakers, the authors note. For example, the idea that no child should be forced to participate in research is codified in federal statutes, and both focus group members and the academic literature state that children should be re-consented using adult protocols at age 18. In contrast, the authors write, “In both the focus groups and in the literature, there is little agreement about what characteristics (e.g., age, maturity) should be used to decide if a child is ready and able to assent to a protocol, or what the cutoff(s) should be.”

The authors note that “few studies have solicited people’s thoughts on a broad range of ethical issues about pediatric research involving genetics.” And though the number of epidemiological studies on children is rising, there is little agreement among experts on how best to safeguard the interests of subjects. “These pediatric studies have employed a wide variety of protocols to obtain assent from and protect the rights of child participants,” the authors write. In light of the focus group results, “it may be necessary to engage the community further to reach acceptable solutions,” they write. “The next step may be to involve the real experts in the community – children themselves.” – Shawna Williams

Article - Ethical Implications of Including Children in a Large Biobank for Genetic-Epidemiologic Research: A Qualitative Study of Public Opinion

Overview - Public Consultation on Genetics, Environment, and Health

The Genetics and Public Policy Center will conduct a series of public town hall meetings to gather feedback from the public on their views and concerns related to a proposed large-cohort study on genes, environment, and health. The town halls are part of a public consultation effort to inform the National Institutes of Health and other federal health agencies’ discussions as they decide whether and how the study will go forward.

One way to study a host of common diseases – such as diabetes, heart disease, and cancer – is to set up large “biobanks” of genetic samples and related health information from large numbers of volunteers. Scientists could use the information in the biobank to conduct research on how a person’s genes, environment, and lifestyle interact to cause disease.

The National Institutes of Health and other federal health agencies are considering starting a biobank of samples and information from hundreds of thousands of volunteers who are then followed for many years, and they have asked the Center to gather feedback from the general public. As part of a two-year, $2 million pilot project funded by the National Human Genome Research Institute, the Center is gathering input on issues related to large, population-based studies through a series of focus groups, community leader interviews, and town halls, as well as a national survey of more than 4,000 individuals.

At the town halls, members of the public will have the opportunity to discuss the pros and cons of establishing and participating in a national biobank with experts and each other. Potential discussion topics include whether the cohort study should proceed, who would have access to the database, who would decide what kind of research could be done using the biobank, why people would or would not participate, what responsibilities researchers and participants would have to each other, and what prospective participants would expect in return – such as return of test results and follow-up care.

The town hall events will be held on March 8 in Kansas City, MO; April 5 in Phoenix, AZ; April 19 in Jackson, MS; April 24 in Portland, OR; and May 13 in Philadelphia, PA. Members of the public can register to attend by calling Erin Wiley at (202) 374-0840 or online at:

• Kansas City
• Phoenix
• Jackson
• Portland
• Philadelphia

Overview - Public Consultation on Genetics, Environment, and Health

The Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) on November 5, 2007 released a draft report, “U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of HHS.” The report details the current state of genetic testing oversight, concludes that current oversight has failed to ensure public health and recommends specific ways of improving the system. SACGHS invited the public to comment on the draft through December 21, 2007. Sixty-four comments were received from professional/trade organizations, government agencies, corporations, academicians, patient advocates, payors associations, and individuals.

The Center examined the comments, including content and context. The full analysis can be found here.