title: An overview of recommendations and translational milestones for genomic tests in cancer.
abstract: OBJECTIVE
  To understand the translational trajectory of genomic tests in cancer screening, diagnosis, prognosis, and treatment, we reviewed tests that have been assessed by recommendation and guideline developers.
  
  
  METHODS
  For each test, we marked translational milestones by determining when the genomic association with cancer was first discovered and studied in patients, and when a health application for a specified clinical use was successfully demonstrated and approved or cleared by the US Food and Drug Administration. To identify recommendations and guidelines, we reviewed the websites of cancer, genomic, and general guideline developers and professional organizations. We searched the in vitro diagnostics database of the US Food and Drug Administration for information, and we searched PubMed for translational milestones. Milestones were examined against type of recommendation, Food and Drug Administration approval or clearance, disease rarity, and test purpose.
  
  
  RESULTS
  Of the 45 tests we identified, 9 received strong recommendations for their usage in clinical settings, 14 received positive but moderate recommendations, and 22 were not currently recommended. For 18 tests, two or more different sources had issued recommendations, with 67% concordance. Only five tests had Food and Drug Administration approval, and an additional five had clearance. The median time from discovery to recommendation statement was 14.7 years.
  
  
  CONCLUSIONS
  In general, there were no associations found between translational trajectory and recommendation category.Genet Med 17 6, 431-440.
authors.affiliation: Epidemiology and Genomics Research Program, National Cancer Institute, Rockville, Maryland, USA.
authors.forename: Christine Q
authors.identifier: 000000024624898X
authors.initials: CQ
authors.lastname: Chang
authors.affiliation: Epidemiology and Genomics Research Program, National Cancer Institute, Rockville, Maryland, USA.
authors.forename: Sharna R
authors.initials: SR
authors.lastname: Tingle
authors.affiliation: Epidemiology and Genomics Research Program, National Cancer Institute, Rockville, Maryland, USA.
authors.forename: Kelly K
authors.initials: KK
authors.lastname: Filipski
authors.affiliation: 1] Epidemiology and Genomics Research Program, National Cancer Institute, Rockville, Maryland, USA [2] Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
authors.forename: Muin J
authors.initials: MJ
authors.lastname: Khoury
authors.affiliation: Epidemiology and Genomics Research Program, National Cancer Institute, Rockville, Maryland, USA.
authors.forename: Tram Kim
authors.initials: TK
authors.lastname: Lam
authors.affiliation: Epidemiology and Genomics Research Program, National Cancer Institute, Rockville, Maryland, USA.
authors.forename: Sheri D
authors.initials: SD
authors.lastname: Schully
authors.affiliation: 1] Epidemiology and Genomics Research Program, National Cancer Institute, Rockville, Maryland, USA [2] Stanford Prevention Research Center, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA [3] Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California, USA [4] Department of Statistics, Stanford University School of Humanities and Sciences, Stanford, California, USA.
authors.forename: John P A
authors.initials: JP
authors.lastname: Ioannidis
mesh_terms: D057069:Diagnostic Test Approval; D055088:Early Detection of Cancer / Q000379:methods / Q000592:standards; D005820:Genetic Testing / Q000379:methods* / Q000592:standards; D023281:Genomics / Q000379:methods* / Q000592:standards; D006801:Humans; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D057170:Translational Research, Biomedical / Q000379:methods* / Q000592:standards; D014481:United States; D014486:United States Food and Drug Administration