基因组医学中的证据综合与指南制定：现状与未来展望。
Evidence synthesis and guideline development in genomic medicine: current status and future prospects.
作者信息
Schully Sheri D, Lam Tram Kim, Dotson W David, Chang Christine Q, Aronson Naomi, Birkeland Marian L, Brewster Stephanie Jo, Boccia Stefania, Buchanan Adam H, Calonge Ned, Calzone Kathleen, Djulbegovic Benjamin, Goddard Katrina A B, Klein Roger D, Klein Teri E, Lau Joseph, Long Rochelle, Lyman Gary H, Morgan Rebecca L, Palmer Christina G S, Relling Mary V, Rubinstein Wendy S, Swen Jesse J, Terry Sharon F, Williams Marc S, Khoury Muin J
机构信息
Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA.
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
出版信息
Genet Med. 2015 Jan;17(1):63-7. doi: 10.1038/gim.2014.69. Epub 2014 Jun 19.
PURPOSE
With the accelerated implementation of genomic medicine, health-care providers will depend heavily on professional guidelines and recommendations. Because genomics affects many diseases across the life span, no single professional group covers the entirety of this rapidly developing field.
METHODS
To pursue a discussion of the minimal elements needed to develop evidence-based guidelines in genomics, the Centers for Disease Control and Prevention and the National Cancer Institute jointly held a workshop to engage representatives from 35 organizations with interest in genomics (13 of which make recommendations). The workshop explored methods used in evidence synthesis and guideline development and initiated a dialogue to compare these methods and to assess whether they are consistent with the Institute of Medicine report "Clinical Practice Guidelines We Can Trust."
RESULTS
The participating organizations that develop guidelines or recommendations all had policies to manage guideline development and group membership, and processes to address conflicts of interests. However, there was wide variation in the reliance on external reviews, regular updating of recommendations, and use of systematic reviews to assess the strength of scientific evidence.
CONCLUSION
Ongoing efforts are required to establish criteria for guideline development in genomic medicine as proposed by the Institute of Medicine.
目的
随着基因组医学的加速实施，医疗保健提供者将严重依赖专业指南和建议。由于基因组学影响着生命周期中的多种疾病，没有哪个单一专业团体能涵盖这个快速发展领域的全部内容。
方法
为探讨制定基于证据的基因组学指南所需的最低要素，疾病控制与预防中心和国家癌症研究所联合举办了一次研讨会，邀请了35个对基因组学感兴趣的组织（其中13个组织提出了建议）的代表参加。该研讨会探讨了证据综合和指南制定中使用的方法，并展开对话以比较这些方法，并评估它们是否与医学研究所的报告《我们可以信赖的临床实践指南》一致。
结果
制定指南或建议的参与组织都有管理指南制定和团体成员资格的政策，以及处理利益冲突的流程。然而，在依赖外部审查、定期更新建议以及使用系统评价来评估科学证据的力度方面，存在很大差异。
结论
需要持续努力，按照医学研究所的提议，建立基因组医学指南制定的标准。
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