Genetics and Medicine

Information resources on genetics and clinical practice, including genetic disorders, genetic testing, precision medicine, and pharmacogenomics

Genetic Medicine Resources: Starting Points for Clinicians

OMIM

MedGen
o Summaries of medical genetics information compiled from GeneReviews, OMIM, ClinVar, Genetic Testing Registry, and PubMed.
o Search for a gene, genetic disorder, or clinical feature.
o Links to practice guidelines.
Gene Reviews
o Point-of-care information for inherited conditions - diagnosis, management, and genetic counseling information.
o Peer-reviewed chapters typically focus on a single gene or phenotype/disorder.
OMIM (Online Mendelian Inheritance in Man)
o Overviews of Mendelian disorders and genes associated with disease.
o Search for symptoms/physical features to find clinical synopses.
ClinVar
o Variants found in patient samples
o Assertions regarding variants' clinical significance.

PharmGKB: Pharmacogenomics Knowledge Base
o Curated information on the impact of human genetic variations on drug responses.
o Drug dosing guidelines.
PharmGKB's Level 1A & 1B Clinical Annotations
o Clinical variant-drug annotations with the highest level of evidence.
FDA Table of Pharmacogenomic Biomarkers in Drug Labeling
o FDA-approved drugs with pharmacogenomic information in their labeling

Genetics Home Reference
o Consumer-friendly information on genetics and health.
GeneReviews
o "Resources" section in each disease chapter is designed for patients.
Genetic & Rare Diseases Information Center (GARD)
o Reliable information about rare and/or genetic diseases written for the public.
o Information Specialists available for individual assistance.
MedlinePlus information on Genetics & Birth Defects
o Information for the public from professional associations, government agencies, patient advocacy organizations.
My Family Health Portrait
o Tool for creating your family health history.

Genetic Competency Guidelines & Educational Materials
o Genetic competencies for physicians, nurses, physician assistants, pharmacists, and genetic counselors.
Universal Genomics Instructor Handbook and Toolkit
o Materials for educators implementing introductory training in genomic medicine for physicians.
Genetics and Genomics for Health Professionals (NHGRI)
o Genetics and genomics information related to patient management, curricular resources, and ethical, legal and social issues.
Recommendations for the integration of genomics into clinical practice
o 2016 article in Genetics in Medicine.
The New Genetics (National Institute of General Medical Sciences)
o Overview of the role of genes in health and disease, the basics of DNA and RNA, and new directions in genetic research.
CDC Public Health Genomics Knowledge Base
o Curated database of scientific literature, guidelines, and commentaries that address the translation of genomic discoveries into improved health care and disease prevention.
Clinicians Toolbox - Implementing Genomics in Practice
o Clinical decision support & integration of genetic information in EHRs.
o Genetic testing & reimbursement.
Genetic Counseling Cultural Competence Toolkit

Two ways to efficiently identify PubMed references relating to medical genetics:

Use the Medical Genetics clinical filter which can be found under "Clinical Queries"
Locate a MeSH term that describes the topic you're interested in, and then add the "genetics" subheading. For example: "Cardiomyopathy, Hypertrophic/genetics"[Mesh]

CSER Guide to Interpreting Genomic Reports
o Guide developed for non-genetic specialists
NIH Genetic Testing Registry (GTR)
o Tests for clinical use and genetic research.
o Information submitted by test providers.
o Use Advanced Search to specify multiple criteria.
GeneTests
o Search by disorder or gene to find available clinical genetic tests.
Tier Table Database (CDC Office of Public Health Genomics)
o Ranking of genomic tests, and family health history applications, by levels of evidence.

Clinical Genomics (2015) by Shashikant Kulkarni (Editor); John Pfeifer (Editor)
Provides an overview of the next-generation sequencing (NGS) technologies that are used in clinical diagnostic laboratories. Also focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting.

ClinVar (NCBI)
o Variants found in patient samples
o Assertions regarding variants' clinical significance.
Variation Services (NCBI)
o Upload your sequence data and get a report of known human variants and functional consequences.
Variant Effect Predictor (ENSEMBL)
o Predicts the effect of variants on genes, transcripts, protein sequences, and regulatory regions.
PolyPhen-2 (Polymorphism Phenotyping - Harvard)
o Predicts possible impact of an amino acid substitution on the structure and function of a human protein.