Literature DB >> 25238897

Progress towards the integration of pharmacogenomics in practice.

Sean D Mooney1.   

Abstract

Understanding the role genes and genetic variants play in clinical treatment response continues to be an active area of research with the goal of common clinical use. This goal has developed into today's industry of pharmacogenomics, where new drug-gene relationships are discovered and further characterized, published and then curated into national and international resources for use by researchers and clinicians. These efforts have given us insight into what a pharmacogenomic variant is, and how it differs from human disease variants and common polymorphisms. While publications continue to reveal pharmacogenomic relationships between genes and specific classes of drugs, many challenges remain toward the goal of widespread use clinically. First, the clinical guidelines for pharmacogenomic testing are still in their infancy. Second, sequencing technologies are changing rapidly making it somewhat unclear what genetic data will be available to the clinician at the time of care. Finally, what and when to return data to a patient is an area under constant debate. New innovations such as PheWAS approaches and whole genome sequencing studies are enabling a tsunami of new findings. In this review, pharmacogenomic variants, pharmacogenomic resources, interpretation clinical guidelines and challenges, such as WGS approaches, and the impact of pharmacogenomics on drug development and regulatory approval are reviewed.

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Mesh:

Year:  2014        PMID: 25238897      PMCID: PMC4362928          DOI: 10.1007/s00439-014-1484-7

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  63 in total

Review 1.  Pharmacogenetics of warfarin: challenges and opportunities.

Authors:  Ming Ta Michael Lee; Teri E Klein
Journal:  J Hum Genet       Date:  2013-05-09       Impact factor: 3.172

2.  Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.

Authors:  William S Oetting; Peter N Robinson; Marc S Greenblatt; Richard G Cotton; Tim Beck; John C Carey; Sandra C Doelken; Marta Girdea; Tudor Groza; Carol M Hamilton; Ada Hamosh; Berit Kerner; Jacqueline A L MacArthur; Donna R Maglott; Barend Mons; Heidi L Rehm; Paul N Schofield; Beverly A Searle; Damian Smedley; Cynthia L Smith; Inge Thomsen Bernstein; Andreas Zankl; Eric Y Zhao
Journal:  Hum Mutat       Date:  2013-04       Impact factor: 4.878

3.  A pharmacogenetic versus a clinical algorithm for warfarin dosing.

Authors:  Stephen E Kimmel; Benjamin French; Scott E Kasner; Julie A Johnson; Jeffrey L Anderson; Brian F Gage; Yves D Rosenberg; Charles S Eby; Rosemary A Madigan; Robert B McBane; Sherif Z Abdel-Rahman; Scott M Stevens; Steven Yale; Emile R Mohler; Margaret C Fang; Vinay Shah; Richard B Horenstein; Nita A Limdi; James A S Muldowney; Jaspal Gujral; Patrice Delafontaine; Robert J Desnick; Thomas L Ortel; Henny H Billett; Robert C Pendleton; Nancy L Geller; Jonathan L Halperin; Samuel Z Goldhaber; Michael D Caldwell; Robert M Califf; Jonas H Ellenberg
Journal:  N Engl J Med       Date:  2013-11-19       Impact factor: 91.245

Review 4.  Genome-wide association studies in pharmacogenomics: successes and lessons.

Authors:  Alison A Motsinger-Reif; Eric Jorgenson; Mary V Relling; Deanna L Kroetz; Richard Weinshilboum; Nancy J Cox; Dan M Roden
Journal:  Pharmacogenet Genomics       Date:  2013-08       Impact factor: 2.089

5.  PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.

Authors:  Joshua C Denny; Marylyn D Ritchie; Melissa A Basford; Jill M Pulley; Lisa Bastarache; Kristin Brown-Gentry; Deede Wang; Dan R Masys; Dan M Roden; Dana C Crawford
Journal:  Bioinformatics       Date:  2010-03-24       Impact factor: 6.937

Review 6.  PharmGKB summary: tamoxifen pathway, pharmacokinetics.

Authors:  Daniel J Klein; Caroline F Thorn; Zeruesenay Desta; David A Flockhart; Russ B Altman; Teri E Klein
Journal:  Pharmacogenet Genomics       Date:  2013-11       Impact factor: 2.089

Review 7.  Common misconceptions in the diagnosis and management of anemia in inflammatory bowel disease.

Authors:  Javier P Gisbert; Fernando Gomollón
Journal:  Am J Gastroenterol       Date:  2008-05       Impact factor: 10.864

8.  The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.

Authors:  Peter D Stenson; Edward V Ball; Matthew Mort; Andrew D Phillips; Katy Shaw; David N Cooper
Journal:  Curr Protoc Bioinformatics       Date:  2012-09

Review 9.  The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era.

Authors:  Marylyn D Ritchie
Journal:  Hum Genet       Date:  2012-08-25       Impact factor: 4.132

10.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971

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  11 in total

Review 1.  Bridging the Gaps in Personalized Medicine Value Assessment: A Review of the Need for Outcome Metrics across Stakeholders and Scientific Disciplines.

Authors:  William S Bush; Jessica N Cooke Bailey; Mark F Beno; Dana C Crawford
Journal:  Public Health Genomics       Date:  2019-08-27       Impact factor: 2.000

Review 2.  Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide.

Authors:  Evangelia Eirini Tsermpini; Zeina N Al-Mahayri; Bassam R Ali; George P Patrinos
Journal:  Hum Genet       Date:  2021-10-01       Impact factor: 4.132

3.  Search and visualization of gene-drug-disease interactions for pharmacogenomics and precision medicine research using GeneDive.

Authors:  Mike Wong; Paul Previde; Jack Cole; Brook Thomas; Nayana Laxmeshwar; Emily Mallory; Jake Lever; Dragutin Petkovic; Russ B Altman; Anagha Kulkarni
Journal:  J Biomed Inform       Date:  2021-03-16       Impact factor: 8.000

4.  Whole genome sequencing in pharmacogenomics.

Authors:  Theodora Katsila; George P Patrinos
Journal:  Front Pharmacol       Date:  2015-03-26       Impact factor: 5.810

5.  Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network.

Authors:  W S Bush; D R Crosslin; A Owusu-Obeng; J Wallace; B Almoguera; M A Basford; S J Bielinski; D S Carrell; J J Connolly; D Crawford; K F Doheny; C J Gallego; A S Gordon; B Keating; J Kirby; T Kitchner; S Manzi; A R Mejia; V Pan; C L Perry; J F Peterson; C A Prows; J Ralston; S A Scott; A Scrol; M Smith; S C Stallings; T Veldhuizen; W Wolf; S Volpi; K Wiley; R Li; T Manolio; E Bottinger; M H Brilliant; D Carey; R L Chisholm; C G Chute; J L Haines; H Hakonarson; J B Harley; I A Holm; I J Kullo; G P Jarvik; E B Larson; C A McCarty; M S Williams; J C Denny; L J Rasmussen-Torvik; D M Roden; M D Ritchie
Journal:  Clin Pharmacol Ther       Date:  2016-06-01       Impact factor: 6.875

6.  GT-WGS: an efficient and economic tool for large-scale WGS analyses based on the AWS cloud service.

Authors:  Yiqi Wang; Gen Li; Mark Ma; Fazhong He; Zhuo Song; Wei Zhang; Chengkun Wu
Journal:  BMC Genomics       Date:  2018-01-19       Impact factor: 3.969

Review 7.  Whole genome sequencing in oncology: using scenario drafting to explore future developments.

Authors:  Michiel van de Ven; Martijn J H G Simons; Valesca P Retèl; Wim H van Harten; Hendrik Koffijberg; Manuela A Joore; Maarten J IJzerman
Journal:  BMC Cancer       Date:  2021-05-01       Impact factor: 4.638

Review 8.  Pharmacogenomics in Pediatric Patients: Towards Personalized Medicine.

Authors:  Hedy Maagdenberg; Susanne J H Vijverberg; Marc B Bierings; Bruce C Carleton; Hubertus G M Arets; Anthonius de Boer; Anke H Maitland-van der Zee
Journal:  Paediatr Drugs       Date:  2016-08       Impact factor: 3.022

9.  Clinical application and importance of one-step human CYP2C19 genotype detection.

Authors:  Ling-Jie Zheng; Ning Liu; Kun Yang; Ai-Feng Wang; Zhi-Rong Tan; Xiang Li
Journal:  J Int Med Res       Date:  2018-10-25       Impact factor: 1.671

Review 10.  Pharmacogenomics cascade testing (PhaCT): a novel approach for preemptive pharmacogenomics testing to optimize medication therapy.

Authors:  Don Roosan; Angela Hwang; Moom R Roosan
Journal:  Pharmacogenomics J       Date:  2020-08-25       Impact factor: 3.550

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