Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience

Elizabeth M.J. Lee, Karen Xu, Emma Mosbrook, Amanda Links, Jessica Guzman, David R. Adams, Elise Flynn, Elise Valkanas, Camillo Toro, Cynthia J. Tifft, Cornelius F. Boerkoel, William A. Gahl, Murat Sincan

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Purpose: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.Methods: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.Results: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.Conclusions: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.

Original languageEnglish (US)
Pages (from-to)1303-1307
Number of pages5
JournalGenetics in Medicine
Issue number12
StatePublished - Dec 1 2016
Externally publishedYes


  • NIH undiagnosed diseases program
  • next generation sequencing
  • pharmacogenomics
  • precision medicine
  • secondary findings

ASJC Scopus subject areas

  • Genetics(clinical)


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