Cover of Medical Genetics Summaries

Medical Genetics Summaries

Editors

Editors: Victoria M. Pratt,1,2 Stuart A. Scott,3,4 Munir Pirmohamed,5,6,7 Bernard Esquivel,8,9 Brandi L. Kattman, Co-editor,10 and Adriana J. Malheiro, Editor-in-chief11.

Affiliations

1 Adjunct Professor, Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, IN 46202
2 Director, Scientific Affairs Pharmacogenetics, Agena Bioscience, San Diego CA 92121
3 Professor, Department of Pathology Stanford University, Palo Alto, CA 94305
4 Director, Stanford Medicine Clinical Genomics Laboratory, Stanford, CA 94305
5 David Weatherall Chair of Medicine and UK National Health Service Chair of Pharmacogenetics, University of Liverpool, Liverpool, UK
6 Director, MRC Centre for Drug Safety Science and Wolfson Centre for Personalized Medicine, University of Liverpool, Liverpool, UK
7 Director, Health Data Research UK North, Liverpool, UK
8 CEO, GenXys, Vancouver, BC V6B 1B8, Canada
9 VP, Clinical Innovation, ixlayer, San Francisco, CA 94105
10 Chief, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health, Bethesda, MD 20894
11 Project Lead, Medical Genetics and Human Variation, National Center for Biotechnology Information (NCBI), National Library of Medicine, National Institutes of Health, Bethesda, MD 20894
Bethesda (MD): National Center for Biotechnology Information (US); -.
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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.