Literature DB >> 24946156

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

Sheri D Schully1, Tram Kim Lam1, W David Dotson2, Christine Q Chang1, Naomi Aronson3, Marian L Birkeland4, Stephanie Jo Brewster5, Stefania Boccia6, Adam H Buchanan7, Ned Calonge8, Kathleen Calzone9, Benjamin Djulbegovic10, Katrina A B Goddard11, Roger D Klein12, Teri E Klein13, Joseph Lau14, Rochelle Long15, Gary H Lyman16, Rebecca L Morgan17, Christina G S Palmer18, Mary V Relling19, Wendy S Rubinstein20, Jesse J Swen21, Sharon F Terry22, Marc S Williams23, Muin J Khoury24.   

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.

Entities:  

Mesh:

Year:  2014        PMID: 24946156      PMCID: PMC4272332          DOI: 10.1038/gim.2014.69

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  16 in total

1.  GRADE: an emerging consensus on rating quality of evidence and strength of recommendations.

Authors:  Gordon H Guyatt; Andrew D Oxman; Gunn E Vist; Regina Kunz; Yngve Falck-Ytter; Pablo Alonso-Coello; Holger J Schünemann
Journal:  BMJ       Date:  2008-04-26

2.  Characterizing genetic variants for clinical action.

Authors:  Erin M Ramos; Corina Din-Lovinescu; Jonathan S Berg; Lisa D Brooks; Audrey Duncanson; Michael Dunn; Peter Good; Tim J P Hubbard; Gail P Jarvik; Christopher O'Donnell; Stephen T Sherry; Naomi Aronson; Leslie G Biesecker; Bruce Blumberg; Ned Calonge; Helen M Colhoun; Robert S Epstein; Paul Flicek; Erynn S Gordon; Eric D Green; Robert C Green; Matthew Hurles; Kensaku Kawamoto; William Knaus; David H Ledbetter; Howard P Levy; Elaine Lyon; Donna Maglott; Howard L McLeod; Nazneen Rahman; Gurvaneet Randhawa; Catherine Wicklund; Teri A Manolio; Rex L Chisholm; Marc S Williams
Journal:  Am J Med Genet C Semin Med Genet       Date:  2014-03-13       Impact factor: 3.908

Review 3.  Pharmacogenomics knowledge for personalized medicine.

Authors:  M Whirl-Carrillo; E M McDonagh; J M Hebert; L Gong; K Sangkuhl; C F Thorn; R B Altman; T E Klein
Journal:  Clin Pharmacol Ther       Date:  2012-10       Impact factor: 6.875

4.  Are randomized trials obsolete or more important than ever in the genomic era?

Authors:  John Pa Ioannidis; Muin J Khoury
Journal:  Genome Med       Date:  2013-04-18       Impact factor: 11.117

5.  Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin.

Authors:  David A Flockhart; Dennis O'Kane; Marc S Williams; Michael S Watson; David A Flockhart; Brian Gage; Roy Gandolfi; Richard King; Elaine Lyon; Robert Nussbaum; Dennis O'Kane; Kevin Schulman; David Veenstra; Marc S Williams; Michael S Watson
Journal:  Genet Med       Date:  2008-02       Impact factor: 8.822

6.  Methodological quality of English-language genetic guidelines on hereditary breast-cancer screening and management: an evaluation using the AGREE instrument.

Authors:  Benedetto Simone; Emma De Feo; Nicola Nicolotti; Walter Ricciardi; Stefania Boccia
Journal:  BMC Med       Date:  2012-11-21       Impact factor: 8.775

Review 7.  Guidelines for guideline developers: a systematic review of grading systems for medical tests.

Authors:  Gowri Gopalakrishna; Miranda W Langendam; Rob J P M Scholten; Patrick M M Bossuyt; Mariska M G Leeflang
Journal:  Implement Sci       Date:  2013-07-10       Impact factor: 7.327

8.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971

9.  Horizon scanning for translational genomic research beyond bench to bedside.

Authors:  Mindy Clyne; Sheri D Schully; W David Dotson; Michael P Douglas; Marta Gwinn; Katherine Kolor; Anja Wulf; M Scott Bowen; Muin J Khoury
Journal:  Genet Med       Date:  2014-01-09       Impact factor: 8.822

Review 10.  Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.

Authors:  Jonathan S Berg; Laura M Amendola; Christine Eng; Eliezer Van Allen; Stacy W Gray; Nikhil Wagle; Heidi L Rehm; Elizabeth T DeChene; Matthew C Dulik; Fuki M Hisama; Wylie Burke; Nancy B Spinner; Levi Garraway; Robert C Green; Sharon Plon; James P Evans; Gail P Jarvik
Journal:  Genet Med       Date:  2013-10-24       Impact factor: 8.822

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  9 in total

1.  Comparative effectiveness research and demonstrating clinical utility for molecular diagnostic tests.

Authors:  Patricia A Deverka; Susanne B Haga
Journal:  Clin Chem       Date:  2014-10-01       Impact factor: 8.327

Review 2.  Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research.

Authors:  Kathryn A Phillips; Patricia A Deverka; Harold C Sox; Muin J Khoury; Lewis G Sandy; Geoffrey S Ginsburg; Sean R Tunis; Lori A Orlando; Michael P Douglas
Journal:  Genet Med       Date:  2017-04-13       Impact factor: 8.822

Review 3.  Precision medicine in diabetes prevention, classification and management.

Authors:  Fangying Xie; Juliana Cn Chan; Ronald Cw Ma
Journal:  J Diabetes Investig       Date:  2018-04-25       Impact factor: 4.232

4.  Stakeholder engagement in policy development: challenges and opportunities for human genomics.

Authors:  Amy A Lemke; Julie N Harris-Wai
Journal:  Genet Med       Date:  2015-03-12       Impact factor: 8.822

Review 5.  Pharmacogenetic approaches in the treatment of alcohol use disorders: addressing clinical utility and implementation thresholds.

Authors:  Christian S Hendershot
Journal:  Addict Sci Clin Pract       Date:  2014-09-13

6.  Application of the GRADE Approach in the Development of Guidelines and Recommendations in Genomic Medicine.

Authors:  Muhammad Rafiq; Stefania Boccia
Journal:  Genomics Insights       Date:  2018-01-30

7.  Assessing the readiness of precision medicine interoperabilty: An exploratory study of the National Institutes of Health genetic testing registry.

Authors:  Jay G Ronquillo; Chunhua Weng; William T Lester
Journal:  J Innov Health Inform       Date:  2017-11-17

8.  Genomics knowledge and attitudes among European public health professionals: Results of a cross-sectional survey.

Authors:  Annalisa Rosso; Erica Pitini; Elvira D'Andrea; Marco Di Marco; Brigid Unim; Valentina Baccolini; Corrado De Vito; Carolina Marzuillo; Floris Barnhoorn; Dineke Zeegers Paget; Paolo Villari
Journal:  PLoS One       Date:  2020-04-02       Impact factor: 3.240

Review 9.  From public health genomics to precision public health: a 20-year journey.

Authors:  Muin J Khoury; M Scott Bowen; Mindy Clyne; W David Dotson; Marta L Gwinn; Ridgely Fisk Green; Katherine Kolor; Juan L Rodriguez; Anja Wulf; Wei Yu
Journal:  Genet Med       Date:  2017-12-14       Impact factor: 8.822

  9 in total

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