儿科肿瘤学中的全基因组和全外显子组测序：对家长及年轻成年患者知识、态度和期望的评估
Whole-Genome and Whole-Exome Sequencing in Pediatric Oncology: An Assessment of Parent and Young Adult Patient Knowledge, Attitudes, and Expectations.
作者信息
Oberg Jennifer A, Ruiz Jenny, Ali-Shaw Trisha, Schlechtweg Kathryn A, Ricci Angela, Kung Andrew L, Chung Wendy K, Appelbaum Paul S, Glade Bender Julia L, Levine Jennifer M
机构信息
, , , , , , and , Herbert Irving Comprehensive Cancer Center and Columbia University Medical Center; and , NewYork-Presbyterian Hospital; and , Columbia University College of Physicians and Surgeons, New York, NY.
出版信息
JCO Precis Oncol. 2018 Mar 14;2. doi: 10.1200/PO.17.00104. eCollection 2018.
PURPOSE
The complexity of results generated from whole-genome sequencing (WGS) and whole-exome sequencing (WES) adds challenges to obtaining informed consent in pediatric oncology. Little is known about knowledge of WGS and WES in this population, and no validated tools exist in pediatric oncology.
METHODS
We developed and psychometrically evaluated a novel WGS and WES knowledge questionnaire, the Precision in Pediatric Sequencing Knowledge Questionnaire (PIPseqKQ), to identify levels of understanding among parents and young adult cancer survivors (≥ 18 years old), off therapy for at least 1 year from a single-institution pediatric oncology outpatient clinic. Participants also completed health literacy and numeracy questionnaires. All participants provided written informed consent.
RESULTS
One hundred eleven participants were enrolled: 76 were parents, and 35 were young adults. Of the total cohort, 77 (69%) were female, 63 (57%) self-identified as white, and 74 (67%) self-identified as non-Hispanic. Sixty-six (59%) had less than a college degree. Adequate health literacy (n = 87; 80%) and numeracy (n = 89; 80%) were demonstrated. Internal consistency was high (Cronbach's α = .88), and test-retest reliability was greater than the 0.7 minimum requirement. Scores were highest for genetic concepts related to health and cancer and lowest for WGS and WES concepts. Health literacy and educational attainment were significantly associated with PIPseqKQ scores. Overall, participants felt the benefits of WGS and WES outweighed the potential risks.
CONCLUSION
Parents and young adult cancer survivors have some genetics knowledge, but they lack knowledge about WGS and WES. The PIPseqKQ is a reliable tool that can identify deficits in knowledge, identify perceptions of risks and benefits of WGS and WES, and help clinicians tailor their consent discussions to best fit families. The PIPseqKQ also may inform the development of educational tools to better facilitate the informed consent process in pediatric oncology.
目的
全基因组测序（WGS）和全外显子组测序（WES）产生的结果复杂，给儿科肿瘤学中获取知情同意带来了挑战。对于该人群对WGS和WES的了解知之甚少，且儿科肿瘤学中不存在经过验证的工具。
方法
我们开发并进行了心理测量学评估一种新型的WGS和WES知识问卷，即儿科测序知识精准问卷（PIPseqKQ），以确定来自单一机构儿科肿瘤门诊的父母和年轻成年癌症幸存者（≥18岁）在停止治疗至少1年后的理解水平。参与者还完成了健康素养和算术问卷。所有参与者均提供了书面知情同意书。
结果
共招募了111名参与者：76名是父母，35名是年轻成年人。在整个队列中，77名（69%）为女性，63名（57%）自我认定为白人，74名（67%）自我认定为非西班牙裔。66名（59%）拥有低于大学学历。显示出足够的健康素养（n = 87；80%）和算术能力（n = 89；80%）。内部一致性较高（Cronbach's α = 0.88），重测信度大于0.7的最低要求。与健康和癌症相关的遗传概念得分最高，而WGS和WES概念得分最低。健康素养和教育程度与PIPseqKQ得分显著相关。总体而言，参与者认为WGS和WES的益处大于潜在风险。
结论
父母和年轻成年癌症幸存者有一些遗传学知识，但他们缺乏关于WGS和WES的知识。PIPseqKQ是一种可靠的工具，可以识别知识缺陷，识别对WGS和WES风险和益处的认知，并帮助临床医生调整他们的同意讨论，以最适合家庭。PIPseqKQ还可能为教育工具的开发提供信息，以更好地促进儿科肿瘤学中的知情同意过程。
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