Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project
Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project
复制标题
DOI：
10.1038/gim.2017.223
复制
发表时间：
2018-09-01
影响因子：
8.8
通讯作者：
McGuire, Amy L.
中科院分区：
文献类型：
--
作者：
Roberts, J. Scott;Robinson, Jill O.;McGuire, Amy L.
目的：为了检查患者的经验与临床使用全基因组测序（WGS）的方法：一项随机试验比较初级保健和心脏病患者接受WGS和家族健康史（FH）的信息或FH信息单独。202例患者在结果披露前（BL）和披露后6个月（6 M）进行了调查。结果：患者（平均年龄= 55岁; 50%为女性; 81%为大学毕业生）报告了低水平的决策后悔（平均值：7.1/100）和高满意度与医生的结果披露（中位数：29/30）。与仅FH组相比，接受WGS结果的患者更有可能报告学习准确的疾病风险信息（比值比= 7.45）和对药物治疗有影响的结果（比值比= 2.39）。公开WGS结果的会议需要更长的时间（30分钟对15分钟），特别是对于初级保健患者。患者的预期效用的测序在BL高于感知效用在6个月在几个领域，包括影响医疗决策（87%对54%）和影响药物选择（73%对32%）。结论：患者满意他们的医生的沟通WGS结果，并认为他们是医学上有用的。WGS结果的预期效用与感知效用的不一致性表明需要缓和患者对其潜在益处的期望。
Purpose: To examine patients' experiences with clinical use of whole-genome sequencing (WGS).Methods: A randomized trial compared primary care and cardiology patients receiving WGS and family health history (FH) information or FH information alone. 202 patients were surveyed before (BL) and up to 6 months after disclosure of results (6M).Results: Patients (mean age = 55 years; 50% female; 81% college graduates) reported low levels of decisional regret (mean: 7.1/100) and high satisfaction with physicians' disclosure of results (median: 29/30). Compared with the FH-only arm, patients receiving WGS results were more likely to report learning accurate disease risk information (odds ratio = 7.45) and findings influential for medical treatment (odds ratio = 2.39). Sessions where WGS results were disclosed took longer (30 vs. 15 minutes), particularly for primary care patients. Patients' expected utility of sequencing at BL was higher than perceived utility at 6M in several domains, including impacting medical decision making (87% vs. 54%) and influencing medication choice (73% vs. 32%).Conclusion: Patients were satisfied with their physicians' communication of WGS results and perceived them as medically useful. Discrepancies in expected versus perceived utility of WGS results suggest a need to temper patients' expectations about its potential benefits.