Michie Marsha, Kraft Stephanie A, Minear Mollie A, Ryan Roberta R, Allyse Megan A
Institute for Health & Aging, University of California, San Francisco.
Stanford Center for Biomedical Ethics, Stanford University.
Ethics Med Public Health. 2016 Jul-Sep;2(3):362-371. doi: 10.1016/j.jemep.2016.05.004. Epub 2016 Sep 13.
The introduction of prenatal cfDNA screening for fetal aneuploidy and other genetic conditions has exacerbated concerns about informed decision-making in clinical prenatal testing. To assess the information provided to patients to facilitate decisions about cfDNA screening, we collected written patient education and consent documents created by laboratories and clinics.
Informed consent documents (IC) were coded by two independent coders. Each IC was assessed for readability, attention to elements of informed consent, and completeness of information about the test and the screened conditions.
We found variance between IC produced by commercial laboratories versus those provided by local clinics or health care systems, and considerable variance among materials from all sources. "Commercial" IC were longer and written at a more difficult reading level than "non-commercial" IC, and were less likely to state explicitly that cfDNA only screens for certain conditions. About one-third of IC were combined with laboratory order forms. Though most IC recommended confirmatory testing for positive results, only about half clearly stated that results could be incorrect-including mentions of false positives or false negatives. About one-third of IC explicitly stated that cfDNA screening was optional. While nearly all IC from any source listed the conditions screened by the test, only about half of the IC included any phenotypic descriptions of these conditions. Few IC mentioned psychosocial considerations, and only one IC mentioned the availability of support groups for families of children with genetic conditions.
Based on our findings, we recommend that written and well-informed consent be sought before performing cfDNA screening, and we offer minimal and recommended standards for patient education and consent materials.
用于胎儿非整倍体及其他遗传疾病的产前cfDNA筛查的引入加剧了对临床产前检测中知情决策的担忧。为评估向患者提供的以促进关于cfDNA筛查决策的信息，我们收集了实验室和诊所编写的患者教育及同意书文件。
由两名独立编码人员对知情同意书（IC）进行编码。对每份IC评估其可读性、对知情同意要素的关注以及关于检测和筛查疾病信息的完整性。
我们发现商业实验室提供的IC与当地诊所或医疗保健系统提供的IC之间存在差异，且所有来源的材料之间存在相当大的差异。“商业”IC比“非商业”IC更长，阅读难度更高，且不太可能明确指出cfDNA仅筛查某些疾病。约三分之一的IC与实验室订单表格合并。尽管大多数IC建议对阳性结果进行验证检测，但只有约一半明确指出结果可能有误——包括提及假阳性或假阴性。约三分之一的IC明确表示cfDNA筛查是可选的。虽然几乎所有来源的IC都列出了该检测筛查的疾病，但只有约一半的IC包含这些疾病的任何表型描述。很少有IC提及心理社会因素，只有一份IC提到了为患有遗传疾病儿童的家庭提供支持小组的情况。
基于我们的研究结果，我们建议在进行cfDNA筛查前寻求书面且充分知情的同意，并为患者教育及同意材料提供最低标准和推荐标准。
