Patients' understanding of and responses to multiplex genetic susceptibility test results

Examination of patients' responses to direct-to-consumer genetic susceptibility tests is needed to inform clinical practice. This study examined patients' recall and interpretation of, and responses to, genetic susceptibility test results provided directly by mail.

This observational study had three prospective assessments (before testing, 10 days after receiving results, and 3 months later). Participants were 199 patients aged 25-40 years who received free genetic susceptibility testing for eight common health conditions.

More than 80% of the patients correctly recalled their results for the eight health conditions. Patients were unlikely to interpret genetic results as deterministic of health outcomes (mean = 6.0, s.d. = 0.8 on a scale of 1-7, 1 indicating strongly deterministic). In multivariate analysis, patients with the least deterministic interpretations were white (P = 0.0098), more educated (P = 0.0093), and least confused by results (P = 0.001). Only 1% talked about their results with a provider.

Findings suggest that most patients will correctly recall their results and will not interpret genetics as the sole cause of diseases. The subset of those confused by results could benefit from consultation with a health-care provider, which could emphasize that health habits currently are the best predictors of risk. Providers could leverage patients' interest in genetic tests to encourage behavior changes to reduce disease risk.