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In the clinic with Medical Genetic Summaries (MGS)

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In the Clinic with Medical Genetics Summaries (MGS)

What are the Medical Genetics Summaries (MGS)?

Reviews that provide practical information about genetic testing to guide drug therapy. MGS synthesizes pharmacogenomic information from all available authoritative sources, such as FDA, professional practice guidelines and literature. NCBI Bookshelf: www.ncbi.nlm.nih.gov/books/NBK61999

Information useful in the clinic:

Therapeutic dosing recommendations by phenotype

Enzymatic activity status of significant alleles

Assignment of likely phenotype based on genotypes

Translation of terms in published literature with terms in the lab and clinic - allele nomenclature table harmonizes available synonymous allele names including HGVS, star allele, variant description from the literature, and dbSNP

MGS articles:

Abacavir Therapy and HLA-B*57:01 Genotype
Allopurinol Therapy and HLA-B*58:01 Genotype
Amitriptyline Therapy and CYP2D6 and CYP2C19 Genotype
Aripiprazole Therapy and CYP2D6 Genotype
Atomoxetine Therapy and CYP2D6 Genotype
Azathioprine Therapy and TPMT Genotype
Capecitabine Therapy and DPYD Genotype
Carbamazepine Therapy and HLA Genotypes
Celecoxib Therapy and CYP2C9 Genotype
Clopidogrel Therapy and CYP2C19 Genotype
Clozapine Therapy and CYP2D6, CYP1A2, and CYP3A4 Genotypes
Codeine Therapy and CYP2D6 Genotype
Diazepam Therapy and CYP2C19 Genotype
Esomeprazole Therapy and CYP2C19 Genotype
Fluorouracil Therapy and DPYD Genotype
Gentamicin Therapy and MT-RNR1 Genotype
Imipramine Therapy and CYP2D6 and CYP2C19 Genotype
Irinotecan Therapy and UGT1A1 Genotype
Maraviroc Therapy and CCR5 Genotype
Mercaptopurine Therapy and TPMT Genotype
Omeprazole Therapy and CYP2C19 Genotype
Pertuzumab Therapy and ERBB2 (HER2) Genotype
Phenytoin Therapy and HLA-B*15:02 and CYP2C9 Genotypes
Simeprevir Therapy and IFNL3 Genotype
Sofosbuvir Therapy and IFNL4 Genotype
Tamoxifen Therapy and CYP2D6 Genotype
Thioguanine Therapy and TPMT Genotype
Thioridazine Therapy and CYP2D6 Genotypes
Tramadol Therapy and CYP2D6 Genotype
Trastuzumab Therapy and ERBB2 (HER2) Genotype
Venlafaxine Therapy and CYP2D6 Genotype
Warfarin Therapy and the Genotypes CYP2C9 and VKORC1
 

Standardized format of MGS articles

§Introduction: Drug & drug metabolism, Influence of genetic variation on drug response, FDA, CPIC take-home points: Quick dosing guidelines

§Drug
§Gene(s)
§Genetic Testing
§Therapeutic Recommendations based on Genotype Excerpted from FDA, CPIC, and other authorities
§Nomenclature table: Variant translation table – star alleles, HGVS, etc. 


NCBI has a suite of human genome resources that support the Precision Medicine Initiative by enabling ready access to accurate and up-to-date information to optimize individualized clinical care.

Clinicians can use MedGen (www.ncbi.nlm.nih.gov/medgen) to consider a differential diagnosis, find clinical, molecular, and research information about a condition or phenotype along with links to relevant information, and to find a suitable test in the NIH Genetic Testing Registry (GTR, www.ncbi.nlm.nih.gov/gtr) for specific genes or diseases.

Thank you to all our expert reviewers!

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