The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
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DOI：
10.1186/1745-6215-15-85
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发表时间：
2014-03-20
期刊：
影响因子：
2.5
通讯作者：
MedSeq Project
中科院分区：
文献类型：
--
作者：
Vassy JL;Lautenbach DM;McLaughlin HM;Kong SW;Christensen KD;Krier J;Kohane IS;Feuerman LZ;Blumenthal-Barby J;Roberts JS;Lehmann LS;Ho CY;Ubel PA;MacRae CA;Seidman CE;Murray MF;McGuire AL;Rehm HL;Green RC;MedSeq Project
全基因组测序（WGS）已经在某些临床和研究环境中使用，但其对患者健康，医疗保健利用和临床决策的影响在很大程度上尚未研究。也不知道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：WGS在临床护理中的第一个随机试验。这对随机对照试验比较了WGS与两种临床背景下的标准治疗：（a）心肌病诊所中的疾病特异性基因组药物和（B）初级保健中的一般基因组药物。我们正在招募8至12名心脏病专家，8至12名初级保健医生，以及大约200名患者。参与心脏病学和初级保健试验的患者被随机分配接受有或无WGS的家族史评估。我们的实验室向医生参与者提供基因组报告，以平衡增强基因组信息的可理解性和传达其复杂性的需求。我们为医生参与者提供教育课程，并为他们提供遗传学专业人员热线，以指导他们解释和管理患者的基因组报告。使用不同的数据来源，包括调查，半结构化访谈和临床数据的审查，我们测量的态度，行为和结果的医生和患者参与者在多个时间点之前和之后披露这些结果。新兴测序技术对患者护理的影响尚不清楚。我们已经设计了一个解释WGS结果的过程，并以一种预期我们设想的基因组医学在不久的将来将如何发展的方式将其提供给医生。也就是说，我们的WGS报告提供临床相关信息，同时将WGS结果的复杂性和不确定性传达给医生，并通过医生传达给患者。该项目不仅将阐明将基因组医学整合到患者临床护理中的影响，还将为未来研究的设计提供信息。ClinicalTrials.gov标识符NCT 01736566
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. 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
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
DOI：
10.1093/jnci/93.2.139
发表时间：
2001-01-17
期刊：
JOURNAL OF THE NATIONAL CANCER INSTITUTE
影响因子：
--
作者：
Joffe, S;Cook, EF;Weeks, JC
通讯作者：
Weeks, JC
影响因子：
3.6
作者：
Brehaut, JC;O'Connor, AM;Feldman-Stewart, D
通讯作者：
Feldman-Stewart, D
DOI：
10.1038/gim.2012.22
发表时间：
2012-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
3.9
作者：
Aronson, Samuel J.;Clark, Eugene H.;Babb, Lawrence J.;Baxter, Samantha;Farwell, Lisa M.;Funke, Birgit H.;Hernandez, Amy Lovelette;Joshi, Victoria A.;Lyon, Elaine;Parthum, Andrew R.;Russell, Franklin J.;Varugheese, Matthew;Venman, Thomas C.;Rehm, Heidi L.
通讯作者：
Rehm, Heidi L.