The rapid acceleration of genomic discovery is engendering new tools (e.g., SNP-based genetic susceptibility tests) that enable personalized risk profiles for healthy individuals by disclosing their susceptibility to such common diseases such as diabetes, heart disease and cancer. One mechanism by which personalized risk assessments might improve health is motivating at-risk adults to adhere to annual health maintenance visits and engage in proven screening and risk reduction procedures. However, the utility of these visits for promoting health is likely to depend strongly on the discussions that result between patients and their care providers, and whether the procedures, tests, and referrals prompted by these visits are an appropriate use of resources. Building upon our prior work in this area (i.e., the CDC-funded Family Healthware Intervention trial and NHGRI's Multiplex Initiative), our multidisciplinary team of investigators is planning a multi-center randomized clinical trial (RCT) to examine primary care-based interventions that incorporate multiplex genetic susceptibility testing and family history-based risk information for common, complex diseases. In the RCT, we will examine the impact of these interventions on patients'uptake of health maintenance visits, interactions with health providers, and subsequent health service use. This pilot study will allow us to develop and test approaches that would eventually be implemented and evaluated in our proposed RCT. First we will develop a protocol to integrate our existing family history (Family Healthware) and genetic susceptibility testing (Multiplex Initiative) interventions into a protocol for use in a primary care setting. We will concurrently develop a coding scheme and operations manual for analyzing (via audiotaped health maintenance visits) how multiplex genetic testing and family health history information affect physician- patient encounters. The resulting intervention and coding scheme will then be implemented in a pilot study of a socially and racially diverse sample of 50 patients (age 35-65) recruited from primary care clinics within the Henry Ford Health System. Resulting study materials, infrastructure, and findings will be used to inform the design of the multisite RCT to test our interventions in a larger sample.
Genetic susceptibility testing for common diseases is becoming a widely available risk assessment tool. Also, prominent health authorities (e.g., the Surgeon General) have emphasized the need for improved collection and use of family history information in preventive medicine. Much speculation has focused on the potential benefits and harms of these aspects of genomic medicine, but empirical data in this area are lacking. The proposed research lays the groundwork for future research to address these questions within the context of primary care.
