Supplementary Material for: How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study

<b><i>Aim:</i></b> To assess customer comprehension of health-related personal genomic testing (PGT) results. <b><i>Methods:</i></b> 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 &gt;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. <b><i>Results:</i></b> 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. <b><i>Conclusions:</i></b> 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.

研究目的：本研究旨在评估消费者对健康相关个人基因组检测（PGT，Personal Genomic Testing）结果的理解程度。
研究方法：我们向1030名个人基因组检测消费者展示了基因检测结果的示例报告，并考察其对理解类问题的作答情况。该批受试者平均年龄46.7岁，女性占比59.9%，大学及以上学历者占79.0%，非白人占14.9%，西班牙裔/拉丁裔占4.7%。本次展示的示例报告涵盖阿尔茨海默病与2型糖尿病的遗传风险、超过30种疾病的携带者筛查汇总结果、苯丙酮尿症与囊性纤维化的检测结果，以及他汀类药物的药物反应检测结果。本研究采用逻辑回归分析受试者理解能力的相关影响因素。
研究结果：受试者整体理解度较高，平均正确率为79.1%。其中，他汀类药物反应检测结果与携带者筛查汇总结果的理解正确率最高（81.1%~97.4%），而特定携带者筛查结果的理解正确率较低（63.6%~74.8%）。较高的计算能力、遗传学知识水平与受教育程度均与更高的理解得分显著相关；年龄≥60岁则与较低的理解得分相关。
研究结论：大多数消费者能够准确解读个人基因组检测结果的健康意义，但理解程度会因人口统计学特征、计算能力与遗传学知识水平，以及所呈现遗传信息的类型与格式而异。本研究结果提示，需根据检测类型与消费者特征定制个人基因组检测结果的呈现方式。