Introduction to the Workshop
URLs Provided by Attendees
- Ethical, Legal, and Social Issues
The electronic form of this document may be cited in the following style:
Human Genome Program, U.S. Department of Energy, DOE Human Genome Program Contractor-Grantee Workshop IV, 1994.
Abstracts scanned from text submitted for November 1994 DOE Human Genome Program Contractor-Grantee Workshop. Inaccuracies have not been corrected.
Pathways to Genetic Screening: Molecular Genetics Meets the High-risk Family
Troy Duster and Diane Beeson[1,2]
Institute for the Study of Social Change, 2420 Bowditch Street, University of California, Berkeley, CA 94720; Dept. of Sociology and Social Services, California State University, Hayward, CA 94542)
This project examines the social processes that occur as families at risk for two of the most common autosomal recessive diseases, sickle cell disease (SC) and cystic fibrosis (CF), encounter genetic testing. Since each of these diseases is found primarily in a different ethnic/racial group (CF in European-Americans and SS in African-Americans), each with differing economic and political resources, this research will clarify the role of culture in integrating genetic knowledge and interventions into lived experience. Data are drawn from interviews with members of families in which a gene for CF or SC has been identified. Data collection consists primarily of focused interviews with approximately 300 family members exploring constructions of the following topics: direct personal experience with genetic disorders; the meaning of the disorder for the life of affected individuals and family members; health care and insurance issues; prevention and testing; family communication; communication beyond the family. A variety of patterns of response to these issues has been identified, including the following:
- Women are the primary communicators of genetic knowledge within the family.
- Communication occurs primarily at the time of diagnosis of a child with the disorder and during medical crises.
- Families frequently establish restrictive communication rules related to genetic issues that inhibit involvement in prevention.
- Testing is rarely sought by high-risk family members of either group and at this time occurs primarily as a result of provider initiative.
- Genotype, even when known, is rarely a factor in choosing a partner or in reproductive decision making.
- The most widely considered and accepted form of genetic testing is prenatal testing.
- Acceptance or interest in prenatal testing is unrelated to willingness to abort an affected fetus.
- Men in all socioeconomic groups are more likely to deny genetic risk of their contribution to a child's disorder.
- Grandparents exhibit high levels of distress related to their potential genetic contribution to their grandchild's disorder.
- Although African-Americans are more likely to have been tested for carrier status, those who have been tested are more reluctant to integrate this information into reproductive decision making than the predominantly European-American known CF carriers, and more critical of biomedical approaches to reproduction.
These patterns are being confirmed and amplified as the research concludes its second of three years. In spite of significant differences, the two cultural groups under study share a number of patterns that contrast sharply with cultural assumptions of the social world of molecular genetics. One key theme that emerges from our ongoing research with these families is that the social worlds of molecular genetics and high-risk families are on a potential collision course on the matter of genetic testing, due to differences in the ways in which genetic information is framed in each setting. These differences have important implications for medical practice, health-seeking behavior, intra-familial communication and health policy.