Genetic and environmental risk assessment for colorectal cancer risk in primary care practice settings: a pilot study

The assessment of genetic variants and environmental exposures (i.e., genetic and environmental risk assessment) may permit individualized risk stratification for common diseases as part of routine care. A pilot study was conducted to assess the uptake of, and response to, testing for colorectal cancer risk among average risk patients in primary care practice settings.

Physicians in primary care practices identified patients eligible for colorectal cancer screening and referred them to the study. Research staff administered a baseline survey to consenting patients. At a scheduled office visit, participants underwent decision counseling with a trained nurse educator to facilitate informed decision making about being tested for methylene tetrahydrofolate reductase status and red blood cell folate level. Combined assessment can stratify colorectal cancer risk. Test results were disclosed within 2 weeks after the visit. Postvisit and 1-month endpoint surveys were administered. Univariable analyses of survey data were performed to assess changes from baseline in genetic and environmental risk assessment and colorectal cancer screening-related knowledge and perceptions.

Of the 57 patients who were referred to the study, 25 (44%) consented to participate, and all but one were tested. Participant knowledge about genetic and environmental risk assessment and colorectal cancer screening, perceived colorectal cancer screening response efficacy, and perceived social support for colorectal cancer screening increased significantly from baseline. Participants reported low levels of intrusive thoughts about CRC.

Knowledge and favorable perceptions of colorectal cancer screening increased, as did knowledge about genetic and environmental risk assessment, after exposure to the study intervention. Further research is needed to assess genetic and environmental risk assessment uptake and impact at the population level.