Genomes2People and Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Broad Institute and Harvard Medical School, 41 Avenue Louis Pasteur, Suite 301, 02115 Boston, MA, USA.
Trials. 2014 Mar 20;15:85. doi: 10.1186/1745-6215-15-85.
Whole genome sequencing (WGS) is already being used in certain clinical and research settings, but its impact on patient well-being, health-care utilization, and clinical decision-making remains largely unstudied. It is also unknown how best to communicate sequencing results to physicians and patients to improve health. We describe the design of the MedSeq Project: the first randomized trials of WGS in clinical care.
METHODS/DESIGN: This pair of randomized controlled trials compares WGS to standard of care in two clinical contexts: (a) disease-specific genomic medicine in a cardiomyopathy clinic and (b) general genomic medicine in primary care. We are recruiting 8 to 12 cardiologists, 8 to 12 primary care physicians, and approximately 200 of their patients. Patient participants in both the cardiology and primary care trials are randomly assigned to receive a family history assessment with or without WGS. Our laboratory delivers a genome report to physician participants that balances the needs to enhance understandability of genomic information and to convey its complexity. We provide an educational curriculum for physician participants and offer them a hotline to genetics professionals for guidance in interpreting and managing their patients' genome reports. Using varied data sources, including surveys, semi-structured interviews, and review of clinical data, we measure the attitudes, behaviors and outcomes of physician and patient participants at multiple time points before and after the disclosure of these results.
The impact of emerging sequencing technologies on patient care is unclear. We have designed a process of interpreting WGS results and delivering them to physicians in a way that anticipates how we envision genomic medicine will evolve in the near future. That is, our WGS report provides clinically relevant information while communicating the complexity and uncertainty of WGS results to physicians and, through physicians, to their patients. This project will not only illuminate the impact of integrating genomic medicine into the clinical care of patients but also inform the design of future studies.
ClinicalTrials.gov identifier NCT01736566.
全基因组测序（WGS）已经在某些临床和研究环境中使用，但它对患者健康、医疗保健利用和临床决策的影响在很大程度上仍未得到研究。目前也不清楚如何最好地将测序结果传达给医生和患者，以改善健康。我们描述了 MedSeq 项目的设计：这是首次在临床护理中进行 WGS 的随机试验。
方法/设计：这两项随机对照试验比较了 WGS 在两种临床环境中的标准护理：（a）心肌病诊所的特定疾病基因组医学和（b）初级保健中的一般基因组医学。我们正在招募 8 到 12 名心脏病专家、8 到 12 名初级保健医生和大约 200 名他们的患者。两项心脏病学和初级保健试验的患者参与者随机分配接受或不接受 WGS 的家族史评估。我们的实验室向医生参与者提供一份基因组报告，该报告平衡了增强对基因组信息的理解和传达其复杂性的需求。我们为医生参与者提供了一个教育课程，并为他们提供了一个遗传专业人员热线，以指导他们解释和管理患者的基因组报告。我们使用多种数据源，包括调查、半结构化访谈和临床数据审查，在披露这些结果之前和之后的多个时间点测量医生和患者参与者的态度、行为和结果。
新兴测序技术对患者护理的影响尚不清楚。我们设计了一种解释 WGS 结果并将其传递给医生的方法，这种方法预见了我们设想基因组医学在不久的将来将如何发展。也就是说，我们的 WGS 报告提供了临床相关信息，同时向医生传达了 WGS 结果的复杂性和不确定性，并通过医生向他们的患者传达。该项目不仅将阐明将基因组医学纳入患者临床护理的影响，还将为未来的研究设计提供信息。
ClinicalTrials.gov 标识符 NCT01736566。
