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Open Access Publications from the University of California

Pathways and Barriers to Genetic Testing and Screening: Molecular Genetics Meets the "High-risk Family"


The proliferation of genetic screening and testing is requiring increasing numbers of Americans to integrate genetic knowledge and interventions into their family life and personal experience. This study 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. Each of these diseases is found primarily in a different ethnic/racial group (CF in Americans of North European descent and SC in Americans of West African descent). This has permitted us to have a certain additional lens on the role of culture in integrating genetic testing into family life and reproductive planning. A third type of genetic disorder, the thalassemias, was added to our sample in order to extend our comparative frame and to include other ethnic and racial groups.

Data are drawn from interviews with members of families in which a gene for CF, SC or thalassemia has been identified. Data consist of focused interviews with 394 individuals from families in which at least one member has been identified as having a genetic disorder (or trait). In addition, we conducted homogeneous focus groups with individuals sharing key social characteristics such as gender and relationship to disease. This clarified the social processes that facilitate and inhibit genetic testing.

We have observed a wide range of responses to genetic testing, from resistance or avoidance to vigilant utilization of both information and the technology. These responses are patterned along a number of social, cultural and economic dimensions. The major pattern we have observed is that the closer people are to someone with genetic disease the more problematic and usually unacceptable genetic testing is as a strategy for dealing with the issues. High-risk family members who support genetic research do so primarily because they view it as leading to better care and ultimately a cure, not because they support genetic testing per se. While there are interesting variations among ethnic groups, and these are described, our most important finding is that all high-risk families reconceptualize, reframe, and recontextualize the genetic information they are given so that it fits with the divergent values and priorities of family life. In order to better serve these high-risk families, medical and health practitioners will need to acknowledge this recontextualization as an essestial feature of normal family and social relationships.

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