How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study.
How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study.
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DOI：
10.1159/000431250
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发表时间：
2015
影响因子：
1.7
通讯作者：
PGen Study Group
中科院分区：
文献类型：
--
作者：
Ostergren JE;Gornick MC;Carere DA;Kalia SS;Uhlmann WR;Ruffin MT;Mountain JL;Green RC;Roberts JS;PGen Study Group
评估客户对健康相关个人基因组测试 (PGT) 结果的理解程度。我们提供了基因结果样本报告，并检查了 1,030 名 PGT 客户（平均年龄：46.7 岁；59.9% 女性；79.0% 大学毕业生；14.9% 非白人；4.7% 西班牙裔/拉丁裔）的回答。样本报告提供了阿尔茨海默病和 2 型糖尿病的遗传风险、> 30 种疾病的携带者筛查摘要结果、苯丙酮尿症和囊性纤维化的结果以及他汀类药物的药物反应结果。逻辑回归用于识别参与者理解的相关性。参与者表现出较高的整体理解力（平均分：正确率为 79.1%）。在他汀类药物反应和携带者筛查总结结果中观察到最高的理解度（范围：81.1-97.4％正确），而在特定携带者筛查结果中观察到较低的理解度（范围：63.6-74.8％正确）。较高的计算能力、遗传知识和教育水平与较高的理解力显着相关。年龄较大（≥ 60 岁）与较低的理解分数相关。大多数客户准确地解释了 PGT 结果对健康的影响；然而，理解因人口特征、计算能力和遗传知识以及所呈现的遗传信息的类型和格式而异。结果表明需要根据测试类型和客户特征定制 PGT 结果的呈现方式。
To assess customer comprehension of health-related personal genomic testing (PGT) results. We presented sample reports of genetic results and examined responses to comprehension questions in 1,030 PGT customers (mean age: 46.7 years; 59.9% female; 79.0% college graduates; 14.9% non-White; 4.7% of Hispanic/Latino ethnicity). Sample reports presented a genetic risk for Alzheimer’s disease and type 2 diabetes, carrier screening summary results for >30 conditions, results for phenylketonuria and cystic fibrosis, and drug response results for a statin drug. Logistic regression was used to identify correlates of participant comprehension. Participants exhibited high overall comprehension (mean score: 79.1% correct). The highest comprehension (range: 81.1–97.4% correct) was observed in the statin drug response and carrier screening summary results, and lower comprehension (range: 63.6–74.8% correct) on specific carrier screening results. Higher levels of numeracy, genetic knowledge, and education were significantly associated with greater comprehension. Older age (≥ 60 years) was associated with lower comprehension scores. Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented. Results suggest a need to tailor the presentation of PGT results by test type and customer characteristics.