American Journal of Medical Genetics 116A:315–323 (2003) Parents’ and Children’s Attitudes Toward the Enrollment of Minors in Genetic Susceptibility Research: Implications for Informed Consent Barbara A. Bernhardt, 1,2 * Ellen S. Tambor, 2 Gertrude Fraser, 3 Lawrence S. Wissow, 1,2 and Gail Geller 1,2 1 Department of Pediatrics, Johns Hopkins School of Medicine, New York 2 Department of Health Policy and Management, Johns Hopkins University Bloomberg School of Public Health, New York 3 Ford Foundation, New York Purpose: Children at high risk of future disease may be recruited for participation in disease susceptibility research involving genetic testing. This study was aimed at assessing parents’ and children’s reactions to such research, and their perceptions of risks and benefits of participating. Methods: Parents and children (ages 10 – 17) from fami- lies at increased risk for breast cancer (n ¼ 16 dyads) and heart disease (n ¼ 21 dyads) parti- cipated in separate audiotaped interviews and a follow-up family interview one year later. We asked about reactions, risks and benefits, and informational needs regarding participation in hypothetical research in- volving genetic testing on a saliva sample. Audiotape transcripts were analyzed quali- tatively. Results: All children would ini- tially participate because they viewed the research as low risk. When thinking about learning their test result and sharing it with others, or the uncertainties of testing, many children became hesitant about participat- ing. Many parents thought their child might worry about a positive result, making them unlikely to enroll their child, or to choose not to tell the child test results. Both children and parents thought the benefits of partici- pating included early detection or treatment (breast cancer families), prevention (heart disease families) and helping others. Chil- dren’s questions about research participa- tion centered on details of the study design and purpose, while parents’ questions re- lated to the genetic test itself. Conclusions: Children’s first reaction to participating in research involving genetic susceptibility testing research may not indicate an ade- quate appreciation of risks and benefits; if encouraged to personalize the impact of genetic testing, children are able to en- gage in a more informed decision-making process. ß 2002 Wiley-Liss, Inc. KEY WORDS: children; breast cancer; heart disease; genetic test- ing; informed consent; qua- litative research INTRODUCTION The discovery of genes associated with common adult- onset disorders will allow for the pre-symptomatic identification of high-risk individuals [Collins, 1999]. Because risk factors during childhood are related to developing conditions such as breast cancer or coronary artery disease as an adult [Berenson et al., 1998; Berkey et al., 1999; Ziegler, 1998], intervention research may be proposed for genetically susceptible children to reduce future morbidity. Future research studies may involve first identifying children likely to carry disease suscep- tibility mutations based on family history, offering genetic testing, and then evaluating risk-reducing inter- ventions in children who carry susceptibility mutations. Breast cancer and atherosclerotic heart disease are examples of common disorders that might be preven- table through this identification/testing/intervention/ prevention model [Collins, 1999; American Academy of Pediatrics, Committee on Bioethics, 2001]. Women who carry a mutation in one of two breast cancer suscep- tibility genes, BRCA1 or BRCA2, face up to an 84% Grant sponsor: National Institute of Child Health and Development; Grant number: RO1 HD36189-01; Grant sponsor: National Human Genome Research Institute (Administrative Supplement). *Correspondence to: Barbara A. Bernhardt, M.S., 550 N. Broadway, Suite 511 Baltimore, MD 21205. E-mail: bbernhar@welch.jhu.edu Received 19 March 2002; Accepted 5 August 2002 DOI 10.1002/ajmg.a.10040 ß 2002 Wiley-Liss, Inc.