ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Pharmacogenetics in Italy: current landscape and future prospects.Human genomics · 2024Review
- Advancing Pharmacogenomics from Single-Gene to Preemptive Testing.Annual review of genomics and human genetics · 2022Review
- Revisiting Secondary Information Related to Pharmacogenetic Testing.Frontiers in genetics · 2021Article
- Applying Next-Generation Sequencing Platforms for Pharmacogenomic Testing in Clinical Practice.Frontiers in pharmacology · 2021Review
- Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area.Journal of clinical medicine · 2020Review
- Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.European journal of human genetics : EJHG · 2019Article
- Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine.Science China. Life sciences · 2019Review
- Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.Frontiers in pharmacology · 2019Article
- Pharmacogenomics and big genomic data: from lab to clinic and back again.Human molecular genetics · 2018Review
- Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care.Clinical and translational science · 2018Article
- Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results.Pharmacogenomics · 2017Article
- Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.Molecular genetics & genomic medicine · 2017Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
Abstract
purposeUsing 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.
methodsPharmacogenomics 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.
resultsA 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.
conclusionsDespite 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.