Evidence synthesis and guideline development in genomic medicine: current status and future prospects.

Schully SD1, Lam TK1, Dotson WD2, Chang CQ1, Aronson N3, Birkeland ML4, Brewster SJ5, Boccia S6, Buchanan AH7, Calonge N8, Calzone K9, Djulbegovic B10, Goddard KA11, Klein RD12, Klein TE13, Lau J14, Long R15, Lyman GH16, Morgan RL17, Palmer CG18, Relling MV19, Rubinstein WS20, Swen JJ21, Terry SF22, Williams MS23, Khoury MJ24.

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Abstract

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.Genet Med advance online publication 19 June 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.69.