All Medical Genetics Summaries content, except where otherwise noted, is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which permits copying, distribution, and adaptation of the work, provided the original work is properly cited and any changes from the original work are properly indicated. Any altered, transformed, or adapted form of the work may only be distributed under the same or similar license to this one.
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Medical Genetics Summaries (MGS) is an international point-of-care resource for clinicians. It describes the impact that specific DNA sequence variations have on health. The chapters in MGS form a growing collection of peer-reviewed articles that synthesize pharmacogenomic evidence. These articles provide practical information about genetic testing to guide drug therapy and include therapeutic recommendations based on genotype from medical and professional societies. Each chapter is standardized and includes a summary; a description of drug use, metabolism, and action; the enzymatic activity status of significant alleles; the assignment of likely metabolic phenotype based on genotype; and the translation of allele terms used in published literature to terms used in the laboratory, including HGVS expression, star allele, and dbSNP number. Additional MGS articles review genetic variants that underlie inherited conditions or affect the risk of developing a disease in the future. The primary focus of MGS is on genetic variations that influence how an individual may respond to a specific drug.
Contents
- AcknowledgementsMegan Kane.Last Update: December 22, 2020.
- IntroductionLaura Dean and Megan Kane.Created: September 15, 2016; Last Update: June 28, 2024.
- Genetic variants and drug responses
- Abacavir Therapy and HLA-B*57:01 GenotypeLaura Dean.Created: September 1, 2015; Last Update: April 18, 2018.
- Allopurinol Therapy and HLA-B*58:01 GenotypeLaura Dean and Megan Kane.Created: March 26, 2013; Last Update: December 9, 2020.
- Amitriptyline Therapy and CYP2D6 and CYP2C19 GenotypeLaura Dean.Created: March 23, 2017.
- Aripiprazole Therapy and CYP2D6 GenotypeLaura Dean and Megan Kane.Created: September 22, 2016; Last Update: February 10, 2021.
- Atomoxetine Therapy and CYP2D6 GenotypeLaura Dean.Created: September 10, 2015; Last Update: June 29, 2020.
- Azathioprine Therapy and TPMT and NUDT15 GenotypeLaura Dean.Created: September 20, 2012; Last Update: August 5, 2020.
- Belinostat Therapy and UGT1A1 GenotypeMegan Kane.Created: July 20, 2023.
- Brivaracetam Therapy and CYP2C19 GenotypeLaura Dean.Created: May 15, 2018.
- Capecitabine Therapy and DPYD GenotypeLaura Dean and Megan Kane.Created: September 15, 2016; Last Update: November 2, 2020.
- Carbamazepine Therapy and HLA GenotypeLaura Dean.Created: October 14, 2015; Last Update: August 1, 2018.
- Carisoprodol Therapy and CYP2C19 GenotypeLaura Dean and Megan Kane.Created: April 4, 2017; Last Revision: October 21, 2024.
- Carvedilol Therapy and CYP2D6 GenotypeLaura Dean.Created: August 1, 2018.
- Celecoxib Therapy and CYP2C9 GenotypeLaura Dean and Megan Kane.Created: August 18, 2016; Last Update: January 25, 2021.
- Cetuximab Therapy and RAS and BRAF GenotypeLaura Dean and Megan Kane.Created: November 24, 2020.
- Chloroquine Therapy and G6PD GenotypeMegan Kane.Created: May 16, 2023.
- Clobazam Therapy and CYP2C19 GenotypeLaura Dean.Created: September 23, 2019.
- Clopidogrel Therapy and CYP2C19 GenotypeLaura Dean and Megan Kane.Created: March 8, 2012; Last Update: December 1, 2022.
- Introduction
- Drug: Clopidogrel
- Gene: CYP2C19
- Linking CYP2C19 Genetic Variation with Treatment Response
- Genetic Testing
- The CYP2C19 Gene Interactions with Medications Used for Additional Indications
- Therapeutic Recommendations based on Genotype
- Nomenclature of Selected CYP2C19 Alleles
- Acknowledgments
- Version History
- References
- Clozapine Therapy and CYP GenotypeLaura Dean and Megan Kane.Created: June 8, 2016; Last Update: May 26, 2021.
- Codeine Therapy and CYP2D6 GenotypeLaura Dean and Megan Kane.Created: September 20, 2012; Last Update: March 30, 2021.
- Dabrafenib Therapy and BRAF GenotypeLaura Dean and Megan Kane.Created: August 15, 2017; Last Update: December 4, 2023.
- Deutetrabenazine Therapy and CYP2D6 GenotypeLaura Dean.Created: May 1, 2019.
- Diazepam Therapy and CYP2C19 GenotypeLaura Dean.Created: December 10, 2018; Last Update: October 15, 2020.
- Dronabinol Therapy and CYP2C9 GenotypeLaura Dean and Megan Kane.Created: November 17, 2020.
- Eliglustat Therapy and CYP2D6 GenotypeMegan Kane and Laura Dean.Created: December 22, 2020.
- Esomeprazole Therapy and CYP2C19 GenotypeLaura Dean.Created: October 1, 2012; Last Update: September 23, 2019.
- Flibanserin Therapy and CYP2C19 GenotypeLaura Dean.Created: September 23, 2019.
- Fluorouracil Therapy and DPYD GenotypeLaura Dean and Megan Kane.Created: November 3, 2016; Last Update: January 11, 2021.
- Flurbiprofen Therapy and CYP2C9 GenotypeLaura Dean.Created: February 11, 2019.
- Gentamicin Therapy and MT-RNR1 GenotypeLaura Dean and Megan Kane.Created: April 29, 2015; Last Update: September 22, 2022.
- Hydroxychloroquine Therapy and G6PD GenotypeMegan Kane.Created: May 2, 2023; Last Revision: August 22, 2024.
- Introduction
- Drug: Hydroxychloroquine
- Disease: Malaria
- Disease Class: Rheumatic and Autoimmune Disorders
- Gene: G6PD
- Linking Gene Variation with Treatment Response
- The G6PD Gene Interactions with Medications Used for Additional Indications
- Genetic Testing
- Therapeutic Recommendations based on Genotype
- Nomenclature for Selected G6PD Alleles
- Acknowledgments
- Version History
- References
- Imipramine Therapy and CYP2D6 and CYP2C19 GenotypeLaura Dean.Created: March 23, 2017.
- Irinotecan Therapy and UGT1A1 GenotypeLaura Dean.Created: May 27, 2015; Last Update: April 4, 2018.
- Lacosamide Therapy and CYP2C19 GenotypeLaura Dean.Created: April 18, 2018.
- Lecanemab Therapy and APOE GenotypeMegan Kane.Created: August 12, 2024.
- Lesinurad Therapy and CYP2C9 GenotypeLaura Dean.Created: February 11, 2019.
- Maraviroc Therapy and CCR5 GenotypeLaura Dean.Created: March 18, 2015; Last Update: April 10, 2017.
- Mercaptopurine Therapy and TPMT and NUDT15 GenotypeLaura Dean and Megan Kane.Created: September 20, 2012; Last Update: October 26, 2020.
- Metoprolol Therapy and CYP2D6 GenotypeLaura Dean and Megan Kane.Created: April 4, 2017; Last Update: September 19, 2024.
- Introduction
- Drug: Metoprolol
- Gene: CYP2D6
- Other Genes of Interest: ADRB1, ADRB2, OR10P1, SNX9, GRK5
- Linking CYP2D6 and ADRB1/2 Genetic Variation with Treatment Response
- Genetic Testing
- The CYP2D6 Gene Interactions with Medications Used for Additional Indications
- Therapeutic Recommendations based on Genotype
- Nomenclature of Selected CYP2D6 Alleles
- Nomenclature of Selected ADRB1 Alleles
- Nomenclature of Selected ADRB2 Alleles
- Acknowledgments
- Version History
- References
- Omeprazole Therapy and CYP2C19 GenotypeLaura Dean and Megan Kane.Created: October 1, 2012; Last Update: February 4, 2021.
- Introduction
- Drug class: Proton Pump Inhibitors
- Drug: Omeprazole
- Gene: CYP2C19
- Linking Gene Variation with Treatment Response
- The CYP2C19 Gene Interactions with Medications Used for Additional Indications
- Genetic Testing
- Therapeutic Recommendations based on Genotype
- Nomenclature for Selected CYP2C19 Alleles
- Acknowledgments
- Previous Versions
- References
- Oxycodone Therapy and CYP2D6 GenotypeMegan Kane.Created: October 4, 2022; Last Revision: August 21, 2024.
- Panitumumab Therapy and RAS and BRAF GenotypeLaura Dean and Megan Kane.Created: November 30, 2020.
- Pegloticase Therapy and G6PD GenotypeLaura Dean and Megan Kane.Created: October 1, 2020.
- Pertuzumab Therapy and ERBB2 GenotypeLaura Dean and Megan Kane.Created: September 10, 2015; Last Update: January 21, 2021.
- Introduction
- Drug Class: HER2 Inhibitors
- Drug: Pertuzumab
- Gene: ERBB2 (HER2)
- Genes: ESR1 and PR
- Linking Gene Overexpression with Treatment Response
- Genetic Testing
- Therapeutic Recommendations based on Genotype
- Nomenclature for Selected Genes Associated with Pertuzumab Response
- Acknowledgments
- Version History
- References
- Phenytoin Therapy and HLA-B*15:02 and CYP2C9 GenotypeLaura Dean and Megan Kane.Created: September 22, 2016; Last Update: April 7, 2021.
- Introduction
- Drug: Phenytoin
- The HLA Gene Family
- Gene: HLA-B*15:02
- Gene: CYP2C9
- Linking HLA-B and CYP2C9 Genetic Variation with the Risk of Side Effects and Treatment Response
- The HLA-B and CYP2C9 Gene Interactions with Medications Used for Additional Indications
- Genetic Testing
- Therapeutic Recommendations based on Genotype
- Nomenclature of Selected HLA-B Alleles
- Nomenclature of Selected CYP2C9 Alleles
- Acknowledgments
- Version History
- References
- Piroxicam Therapy and CYP2C9 GenotypeLaura Dean.Created: February 11, 2019.
- Prasugrel Therapy and CYP GenotypeLaura Dean and Megan Kane.Created: April 10, 2017; Last Revision: October 15, 2024.
- Primaquine Therapy and G6PD and CYP2D6 GenotypeMegan Kane.Created: July 6, 2023; Last Revision: August 21, 2024.
- Introduction
- Drug: Primaquine
- Disease: Malaria
- Gene: G6PD
- Gene: CYP2D6
- Linking G6PD and CYP2D6 Genetic Variation with Treatment Response
- The G6PD and CYP2D6 Gene Interactions with Medications Used for Additional Indications
- Genetic Testing
- Therapeutic Recommendations based on Genotype
- Nomenclature for Selected G6PD and CYP2D6 Alleles
- Acknowledgments
- Version History
- References
- Propafenone Therapy and CYP2D6 GenotypeLaura Dean.Created: April 4, 2017.
- Rasburicase Therapy and G6PD and CYB5R GenotypeLaura Dean and Megan Kane.Created: September 29, 2020.
- Risperidone Therapy and CYP2D6 GenotypeLaura Dean.Created: April 10, 2017.
- Simvastatin Therapy and SLCO1B1
GenotypeMegan Kane.Created: March 22, 2024.
- Introduction
- Drug: Simvastatin
- Gene: SLCO1B1
- Linking SLCO1B1 Genetic Variation with Treatment Response
- Genetic Testing
- The SLCO1B1 Gene Interactions with Medications Used for Additional Indications
- Therapeutic Recommendations based on Genotype
- Nomenclature for Selected SLCO1B1 Alleles
- Acknowledgments
- References
- Siponimod Therapy and CYP2C9 GenotypeMegan Kane.Created: August 9, 2023.
- Sofosbuvir Therapy and IFNL4 GenotypeLaura Dean.Created: January 25, 2017.
- Tafenoquine Therapy and G6PD GenotypeLaura Dean and Megan Kane.Created: October 13, 2020.
- Tamoxifen Therapy and CYP2D6 GenotypeLaura Dean.Created: October 7, 2014; Last Update: May 1, 2019.
- Thioguanine Therapy and TPMT and NUDT15 GenotypeLaura Dean.Created: September 20, 2012; Last Update: August 7, 2020.
- Thioridazine Therapy and CYP2D6 GenotypesLaura Dean.Created: February 9, 2017.
- Tramadol Therapy and CYP2D6 GenotypeLaura Dean and Megan Kane.Created: September 10, 2015; Last Revision: August 21, 2024.
- Trastuzumab Therapy and ERBB2 GenotypeLaura Dean and Megan Kane.Created: August 5, 2015; Last Update: January 5, 2021.
- Vemurafenib Therapy and BRAF and NRAS GenotypeLaura Dean.Created: August 15, 2017.
- Venlafaxine Therapy and CYP2D6 GenotypeLaura Dean.Created: July 27, 2015; Last Update: June 29, 2020.
- Voriconazole Therapy and CYP2C19 GenotypeLaura Dean.Created: December 27, 2019.
- Warfarin Therapy and VKORC1 and CYP GenotypeLaura Dean.Created: March 8, 2012; Last Update: June 11, 2018.
- Abacavir Therapy and HLA-B*57:01 Genotype
- Genetic variants and disease
- ABO Blood GroupLaura Dean.Created: October 1, 2012; Last Update: July 27, 2015.
- ACHOO SyndromeLaura Dean.Created: October 15, 2012; Last Update: July 27, 2015.
- McCune-Albright SyndromeLaura Dean.Created: March 8, 2012; Last Update: March 6, 2017.
- Methylenetetrahydrofolate Reductase DeficiencyLaura Dean.Created: March 8, 2012; Last Update: October 27, 2016.
- Pitt-Hopkins SyndromeLaura Dean.Created: March 8, 2012; Last Update: August 1, 2018.
- SchizophreniaLaura Dean.Created: March 8, 2012; Last Update: February 6, 2017.
- ABO Blood Group
- Authoring and Peer ReviewCreated: May 11, 2017; Last Update: August 20, 2024.
- Medical Genetics Summaries Expert ReviewersLaura Dean and Megan Kane.Created: June 29, 2017; Last Update: December 12, 2023.
- CYP2D6 Overview: Allele and Phenotype FrequenciesMegan Kane.Created: October 15, 2021.
Indiana University is sponsoring Medical Genetics Summaries in association with the National Center for Biotechnology Information.
Copy Editors: Susan Douglas, Stacy Lathrop
Book Cover Image Credit: Aynex Mercado
Medical Genetics Summaries staff cannot provide medical advice to individuals, or consultant services. To find a genetics professional in your area, please visit the Genetic Testing Registry homepage and go to the section "Locate a Genetics Professional" to find links to directories of professional societies.
- NLM CatalogRelated NLM Catalog Entries
- Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.[Cochrane Database Syst Rev. 2022]Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, et al. Cochrane Database Syst Rev. 2022 Feb 1; 2(2022). Epub 2022 Feb 1.
- Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG).[Genet Med. 2022]Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG).Tayeh MK, Gaedigk A, Goetz MP, Klein TE, Lyon E, McMillin GA, Rentas S, Shinawi M, Pratt VM, Scott SA, et al. Genet Med. 2022 Apr; 24(4):759-768. Epub 2022 Feb 10.
- PGMD: a comprehensive manually curated pharmacogenomic database.[Pharmacogenomics J. 2016]PGMD: a comprehensive manually curated pharmacogenomic database.Kaplun A, Hogan JD, Schacherer F, Peter AP, Krishna S, Braun BR, Nambudiry R, Nitu MG, Mallelwar R, Albayrak A. Pharmacogenomics J. 2016 Apr; 16(2):124-8. Epub 2015 May 5.
- Review DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium.[J Mol Diagn. 2024]Review DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium.Pratt VM, Cavallari LH, Fulmer ML, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, et al. J Mol Diagn. 2024 Oct; 26(10):851-863. Epub 2024 Jul 18.
- Review Pharmacogenomics in Pain Management: A Review of Relevant Gene-Drug Associations and Clinical Considerations.[Ann Pharmacother. 2021]Review Pharmacogenomics in Pain Management: A Review of Relevant Gene-Drug Associations and Clinical Considerations.Brandl E, Halford Z, Clark MD, Herndon C. Ann Pharmacother. 2021 Dec; 55(12):1486-1501. Epub 2021 Mar 26.
- Medical Genetics SummariesMedical Genetics Summaries
Your browsing activity is empty.
Activity recording is turned off.
See more...