ArticleMolecular genetics & genomic medicine2017
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 31 citations in OpenAlex.
- Genome Sequencing Enhances Precision and Clinical Utility of Pharmacogenetic Data Compared to Arrays.Journal of clinical pharmacology · 2026Article
- STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings.European journal of medical genetics · 2026Article
- Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival.Transplantation · 2026Article
- Review
- Current status of the analytical validation of next generation sequencing applications for pharmacogenetic profiling.Molecular biology reports · 2023Review
- The Critical Role of Pharmacists in the Clinical Delivery of Pharmacogenetics in the U.S.Pharmacy (Basel, Switzerland) · 2023Review
- Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data.The pharmacogenomics journal · 2022Article
- Pharmacogenomic testing in paediatrics: Clinical implementation strategies.British journal of clinical pharmacology · 2022Review
- Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing.The Journal of molecular diagnostics : JMD · 2022Article
- Applying Next-Generation Sequencing Platforms for Pharmacogenomic Testing in Clinical Practice.Frontiers in pharmacology · 2021Review
- Pharmacogenomics at the Point of Care: A Community Pharmacy Project in British Columbia.Journal of personalized medicine · 2020Article
- Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area.Journal of clinical medicine · 2020Review
- Technologies for Pharmacogenomics: A Review.Genes · 2020Review
- Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics.Clinical pharmacology and therapeutics · 2020Article
- Article
- Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.Frontiers in pharmacology · 2019Article
- Integrating pharmacogenetic testing into primary care.Expert review of precision medicine and drug development · 2017Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe characterized the pharmacogenomics (PGx) results received by diagnostic odyssey patients as secondary findings during clinical whole exome sequencing (WES) testing as a part of their care in Mayo Clinic's Individualized Medicine Clinic to determine the potential benefits and limitations to this cohort.
methodsWES results on 94 patients included a subset of PGx variants in
resultsThe majority was young with a median age of 10 years old, had neurological involvement in the disease presentation (71%), and was currently taking medications (90%). Of the 94 PGx-evaluated patients, 91% had at least one variant allele reported and 20% had potential immediate implications on current medication use.
conclusionDue to the disease complexity and medication needs of diagnostic odyssey patients, there may be immediate benefit obtained from early life PGx testing for many and most will likely find benefit in the future. These results require conscientious interpretation and management to be actionable for all prescribing physicians throughout the lifetime of the patient.
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