Crawford James M, Bry Lynn, Pfeifer John, Caughron Samuel K, Black-Schaffer Stephen, Kant Jeffrey A, Kaufman Jill H
Hofstra North Shore-LIJ School of Medicine, Uniondale, New York, USA.
Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Genet Med. 2014 Dec;16(12):954-61. doi: 10.1038/gim.2014.60. Epub 2014 Jul 10.
The practice of "genomic" (or "personalized") medicine requires the availability of appropriate diagnostic testing. Our study objective was to identify the reasons for health systems to bring next-generation sequencing into their clinical laboratories and to understand the process by which such decisions were made. Such information may be of value to other health systems seeking to provide next-generation sequencing testing to their patient populations.
A standardized open-ended interview was conducted with the laboratory medical directors and/or department of pathology chairs of 13 different academic institutions in 10 different states.
Genomic testing for cancer dominated the institutional decision making, with three primary reasons: more effective delivery of cancer care, the perceived need for institutional leadership in the field of genomics, and the premise that genomics will eventually be cost-effective. Barriers to implementation included implementation cost; the time and effort needed to maintain this newer testing; challenges in interpreting genetic variants; establishing the bioinformatics infrastructure; and curating data from medical, ethical, and legal standpoints. Ultimate success depended on alignment with institutional strengths and priorities and working closely with institutional clinical programs.
These early adopters uniformly viewed genomic analysis as an imperative for developing their expertise in the implementation and practice of genomic medicine.
“基因组”（或“个性化”）医学的实践需要有合适的诊断检测手段。我们的研究目的是确定卫生系统将下一代测序技术引入其临床实验室的原因，并了解做出此类决策的过程。这些信息可能对其他寻求为患者群体提供下一代测序检测的卫生系统有价值。
对来自10个不同州的13个不同学术机构的实验室医学主任和/或病理学系主任进行了标准化的开放式访谈。
癌症的基因组检测在机构决策中占主导地位，主要有三个原因：更有效地提供癌症治疗、认为机构在基因组学领域需要发挥领导作用以及基因组学最终将具有成本效益的前提。实施的障碍包括实施成本；维持这种更新检测所需的时间和精力；解释基因变异的挑战；建立生物信息学基础设施；以及从医学、伦理和法律角度整理数据。最终的成功取决于与机构优势和优先事项保持一致，并与机构临床项目密切合作。
这些早期采用者一致认为基因组分析对于发展他们在基因组医学实施和实践方面的专业知识至关重要。
