Department of Genetics and Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, California, USA.
Geisinger, 100 North Academy Avenue, Danville, Pennsylvania, 17822, USA.
Genet Med. 2019 Mar;21(3):727-735. doi: 10.1038/s41436-018-0093-6. Epub 2018 Jul 6.
In response to genetic testing being widely ordered by nongenetics clinicians, the Consent and Disclosure Recommendations (CADRe) Workgroup of the Clinical Genome Resource (ClinGen; clinicalgenome.org ) developed guidance to facilitate communication about genetic testing and efficiently improve the patient experience. Considering ethical, legal, and social implications, and medical factors, CADRe developed and pilot tested two rubrics addressing consent for genetic testing and results disclosure. The CADRe rubrics allow for adjusting the communication approach based on circumstances specific to patients and ordering clinicians.
We present results of a formative survey of 66 genetics clinicians to assess the consent rubric for nine genes (MLH1, CDH1, TP53, GJB2, OTC; DMD, HTT, and CYP2C9/VKORC1). We also conducted interviews and focus groups with family and patient stakeholders (N = 18), nongenetics specialists (N = 27), and genetics clinicians (N = 32) on both rubrics.
Formative evaluation of the CADRe rubrics suggests key factors on which to make decisions about consent and disclosure discussions for a "typical" patient.
We propose that the CADRe rubrics include the primary issues necessary to guide communication recommendations, and are ready for pilot testing by nongenetics clinicians. Consultation with genetics clinicians can be targeted toward more complex or intensive consent and disclosure counseling.
由于非遗传学临床医生广泛要求进行基因检测，临床基因组资源（ClinGen；clinicalgenome.org）的同意和披露建议（CADRe）工作组制定了指导意见，以促进有关基因检测的沟通，并有效地改善患者体验。考虑到伦理、法律和社会影响以及医疗因素，CADRe 制定并试点测试了两个针对遗传检测同意和结果披露的纲要。CADRe 纲要允许根据患者和医嘱临床医生的具体情况调整沟通方法。
我们展示了对 66 名遗传学临床医生的形成性调查结果，以评估针对九个基因（MLH1、CDH1、TP53、GJB2、OTC；DMD、HTT 和 CYP2C9/VKORC1）的同意纲要。我们还对 18 名家庭和患者利益相关者、27 名非遗传学专家和 32 名遗传学临床医生进行了关于两个纲要的访谈和焦点小组讨论。
对 CADRe 纲要的形成性评估表明，对于“典型”患者，在同意和披露讨论方面做出决策的关键因素。
我们提出，CADRe 纲要包括指导沟通建议所需的主要问题，并且已经准备好由非遗传学临床医生进行试点测试。与遗传学临床医生的咨询可以针对更复杂或强化的同意和披露咨询进行。
