title: The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.
abstract: The National Institutes of Health Genetic Testing Registry (GTR; available online at http://www.ncbi.nlm.nih.gov/gtr/) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis. Information is voluntarily submitted by test providers. The database provides details of each test (e.g. its purpose, target populations, methods, what it measures, analytical validity, clinical validity, clinical utility, ordering information) and laboratory (e.g. location, contact information, certifications and licenses). Each test is assigned a stable identifier of the format GTR000000000, which is versioned when the submitter updates information. Data submitted by test providers are integrated with basic information maintained in National Center for Biotechnology Information's databases and presented on the web and through FTP (ftp.ncbi.nih.gov/pub/GTR/_README.html).
authors.affiliation: National Institutes of Health, National Library of Medicine, National Center for Biotechnology Information, Bethesda, MD 20894, USA. wendy.rubinstein@nih.gov
authors.forename: Wendy S
authors.initials: WS
authors.lastname: Rubinstein
authors.forename: Donna R
authors.initials: DR
authors.lastname: Maglott
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Lee
authors.forename: Brandi L
authors.initials: BL
authors.lastname: Kattman
authors.forename: Adriana J
authors.initials: AJ
authors.lastname: Malheiro
authors.forename: Michael
authors.initials: M
authors.lastname: Ovetsky
authors.forename: Vichet
authors.initials: V
authors.lastname: Hem
authors.forename: Viatcheslav
authors.initials: V
authors.lastname: Gorelenkov
authors.forename: Guangfeng
authors.initials: G
authors.lastname: Song
authors.forename: Craig
authors.initials: C
authors.lastname: Wallin
authors.forename: Nora
authors.initials: N
authors.lastname: Husain
authors.forename: Shanmuga
authors.initials: S
authors.lastname: Chitipiralla
authors.forename: Kenneth S
authors.initials: KS
authors.lastname: Katz
authors.forename: Douglas
authors.initials: D
authors.lastname: Hoffman
authors.forename: Wonhee
authors.initials: W
authors.lastname: Jang
authors.forename: Mark
authors.initials: M
authors.lastname: Johnson
authors.forename: Fedor
authors.initials: F
authors.lastname: Karmanov
authors.forename: Alexander
authors.initials: A
authors.lastname: Ukrainchik
authors.forename: Mikhail
authors.initials: M
authors.lastname: Denisenko
authors.forename: Cathy
authors.initials: C
authors.lastname: Fomous
authors.forename: Kathy
authors.initials: K
authors.lastname: Hudson
authors.forename: James M
authors.initials: JM
authors.lastname: Ostell
mesh_terms: D030541:Databases, Genetic; D005796:Genes; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D020407:Internet; D010641:Phenotype; D012042:Registries