title: Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.
abstract: Using single-nucleotide polymorphism (SNP) chip and exome sequence data from individuals participating in the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP), we evaluated the number and therapeutic informativeness of incidental pharmacogenetic variants.
  
  
  
  Pharmacogenomics Knowledgebase (PharmGKB) annotated sequence variants were identified in 1,101 individuals. Medication records of participants were used to identify individuals prescribed medications with a genetic variant that might alter efficacy.
  
  
  
  A total of 395 sequence variants, including 19 PharmGKB 1A and 1B variants, were identified in SNP chip sequence data, and 388 variants, including 21 PharmGKB 1A and 1B variants, were identified in the exome sequence data. Nine participants had incidental pharmacogenetic variants associated with altered efficacy of a prescribed medication.
  
  
  
  Despite the small size of the NIH UDP patient cohort, we identified pharmacogenetic incidental findings potentially useful for guiding therapy. Consequently, groups conducting clinical genomic studies might consider reporting of pharmacogenetic incidental findings.Genet Med 18 12, 1303-1307.
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Elizabeth M J
authors.identifier: 0000-0003-3097-241X
authors.initials: EM
authors.lastname: Lee
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Karen
authors.identifier: 0000-0003-3412-1591
authors.initials: K
authors.lastname: Xu
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Emma
authors.initials: E
authors.lastname: Mosbrook
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Amanda
authors.initials: A
authors.lastname: Links
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Jessica
authors.identifier: 0000-0002-9307-2403
authors.initials: J
authors.lastname: Guzman
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: David R
authors.initials: DR
authors.lastname: Adams
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Elise
authors.initials: E
authors.lastname: Flynn
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Elise
authors.identifier: 0000-0003-0221-8196
authors.initials: E
authors.lastname: Valkanas
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Camillo
authors.identifier: 0000-0003-4624-4732
authors.initials: C
authors.lastname: Toro
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Cynthia J
authors.initials: CJ
authors.lastname: Tifft
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Cornelius F
authors.initials: CF
authors.lastname: Boerkoel
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
authors.affiliation: NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.|National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Murat
authors.initials: M
authors.lastname: Sincan
mesh_terms: D059472:Exome / Q000235:genetics*; D023281:Genomics; D006801:Humans; D033162:Incidental Findings; D009316:National Institutes of Health (U.S.); D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014481:United States