Genomics, Bioinformatics and Translation, RTI International, Washington, DC, USA.
Center for Communication Science, RTI International, Research Triangle Park, NC, USA.
J Genet Couns. 2021 Feb;30(1):42-50. doi: 10.1002/jgc4.1363. Epub 2020 Dec 5.
The descriptor 'usual care' refers to standard or routine care. Yet, no formal definition exists. The need to define what constitutes usual care arises in clinical research. Often one arm in a trial represents usual care in comparison with a novel intervention. Accordingly, usual care in genetic counseling research appears predominantly in randomized controlled trials. Recent standards for reporting genetic counseling research call for standardization, but do not address usual care. We (1) inventoried all seven studies in the Clinical Sequencing Evidence-Generating Consortium (CSER) about how genetic counseling was conceptualized, conducted, and whether a usual care arm was involved; (2) conducted a review of published randomized control trials in genetic counseling, comparing how researchers describe usual care groups; and (3) reviewed existing professionally endorsed definitions and practice descriptions of genetic counseling. We found wide variation in the content and delivery of usual care. Descriptions frequently detailed the content of usual care, most often noting assessment of genetic risk factors, collecting family histories, and offering testing. A minority included addressing psychological concerns or the risks versus benefits of testing. Descriptions of how care was delivered were vague except for mode and type of clinician, which varied. This significant variation, beyond differences expected among subspecialties, reduces the validity and generalizability of genetic counseling research. Ideally, research reflects clinical practice so that evidence generated can be used to improve clinical outcomes. To address this objective, we propose a definition of usual care in genetic counseling research that merges common elements from the National Society of Genetic Counselors' practice definition, the Reciprocal Engagement Model, and the Accreditation Council for Genetic Counselors' practice-based competencies. Promoting consistent execution of usual care in the design of genetic counseling trials can lead to more consistency in representing clinical care and facilitate the generation of evidence to improve it.
“常规护理”一词是指标准或常规护理。然而，目前还没有正式的定义。在临床研究中，需要定义什么是常规护理。通常，试验的一个组与新的干预措施相比代表常规护理。因此，遗传咨询研究中的常规护理主要出现在随机对照试验中。最近遗传咨询研究报告的标准呼吁标准化，但不涉及常规护理。我们 (1) 对临床测序证据生成联盟 (CSER) 中关于遗传咨询如何被概念化、进行以及是否涉及常规护理组的所有七项研究进行了清查；(2) 对遗传咨询中已发表的随机对照试验进行了回顾，比较了研究人员如何描述常规护理组；(3) 审查了现有的遗传咨询专业认可的定义和实践描述。我们发现常规护理的内容和提供方式存在很大差异。描述通常详细说明了常规护理的内容，最常见的是评估遗传风险因素、收集家族史和提供检测。少数包括解决心理问题或检测的风险与益处。除了亚专业之间预期的差异外，护理提供方式的描述非常模糊，包括临床医生的模式和类型。这种显著的差异降低了遗传咨询研究的有效性和可推广性。理想情况下，研究反映临床实践，以便生成的证据可用于改善临床结果。为了实现这一目标，我们提出了遗传咨询研究中常规护理的定义，该定义融合了国家遗传咨询师协会实践定义、互惠参与模型和遗传咨询师认证委员会实践能力的共同要素。在遗传咨询试验的设计中促进常规护理的一致执行可以使临床护理的代表性更加一致，并有助于生成改进护理的证据。
