Niemiec Emilia, Vears Danya F, Borry Pascal, Howard Heidi Carmen
Erasmus Mundus Joint International Doctoral (Ph.D.) Degree Programme in Law, Science and Technology, University of Bologna, Via Galliera 3, 40121, Bologna, Italy.
Department of Law, University of Turin, Lungo Dora Siena 100 A, 10153, Turin, Italy.
J Community Genet. 2018 Apr;9(2):143-151. doi: 10.1007/s12687-017-0324-6. Epub 2017 Aug 31.
Whole-exome and whole-genome sequencing (WES, WGS) can generate an unprecedented amount of complex information, making the informed consent (IC) process challenging. The aim of our study was to assess the readability of English IC forms for clinical whole-exome and whole-genome sequencing using the SMOG and Flesch-Kincaid formulas. We analysed 36 forms, most of which were from US providers. The median readability grade levels were 14.75 (the SMOG formula) and 12.2 (the Flesch-Kincaid formula); these values indicate the years of education after which a person would be able to understand a text studied. All forms studied seem to fail to meet the average recommended readability grade level of 8 (e.g. by Institutional Review Boards of US medical schools) for IC forms, indicating that the content of the forms may not be comprehensible to many patients. The sections aimed at health care professionals (HCPs) in the forms indicate that HCPs should be responsible for explaining IC information to the patients. However, WES and WGS may be increasingly offered by primary care professionals who may not (yet) have sufficient training to be able to communicate effectively with patients about genomics. Therefore, to secure an adequate, truly informed consent process, the task of developing good, legible examples of IC forms along with educating HCPs in genomics should be taken seriously, and adequate resources should be allocated to enable these tasks.
全外显子组测序和全基因组测序（WES，WGS）能够生成数量空前的复杂信息，这使得知情同意（IC）过程颇具挑战性。我们研究的目的是使用烟雾（SMOG）公式和弗莱什-金凯德（Flesch-Kincaid）公式评估临床全外显子组测序和全基因组测序英文IC表格的可读性。我们分析了36份表格，其中大部分来自美国的医疗机构。可读性年级中位数水平分别为14.75（烟雾公式）和12.2（弗莱什-金凯德公式）；这些数值表明一个人在接受多少年教育后能够理解所研究的文本。所有研究的表格似乎都未达到IC表格平均推荐的8年级可读性水平（例如美国医学院校机构审查委员会所推荐的），这表明表格内容可能许多患者都难以理解。表格中针对医疗保健专业人员（HCPs）的部分表明，HCPs应负责向患者解释IC信息。然而，初级保健专业人员可能会越来越多地提供WES和WGS服务，而他们可能（目前）尚未接受足够的培训，无法就基因组学与患者进行有效沟通。因此，为确保有一个充分、真正的知情同意过程，应认真对待开发清晰易懂的IC表格示例以及对HCPs进行基因组学教育的任务，并应分配足够的资源来完成这些任务。
