Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine, St. Louis, MO, USA.
Genet Med. 2012 Jul;14(7):681-7. doi: 10.1038/gim.2012.22.
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.
需要对患者对直接面向消费者的遗传易感性测试的反应进行检查，以为临床实践提供信息。本研究考察了患者对邮寄直接提供的遗传易感性测试结果的回忆、解释和反应。
本观察性研究有三个前瞻性评估（测试前、收到结果后 10 天和 3 个月后）。参与者为 199 名年龄在 25-40 岁之间的患者，他们免费接受了八项常见健康状况的遗传易感性测试。
超过 80%的患者正确回忆了他们在八项健康状况方面的测试结果。患者不太可能将遗传结果解释为健康结果的决定因素（在 1-7 的量表上，平均值为 6.0，标准差为 0.8，1 表示强烈决定论）。在多变量分析中，对结果最不具有决定论解释的患者是白人（P = 0.0098）、受教育程度更高（P = 0.0093）、对结果最不困惑（P = 0.001）。只有 1%的患者与提供者讨论了他们的结果。
研究结果表明，大多数患者将正确回忆他们的结果，并且不会将遗传学视为疾病的唯一原因。对结果感到困惑的患者可以从与医疗保健提供者的咨询中受益，这可以强调健康习惯是风险的最佳预测因素。提供者可以利用患者对遗传测试的兴趣，鼓励他们改变行为以降低疾病风险。
