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Genomics research discoveries are ushering in a new era of healthcare through earlier diagnosis, move effective prevention and treatment of disease, and avoidance of drug side effects.

Clinical Resources

Many clinical tools, toolkits, and other resources are now available to healthcare providers to personalize screening, prevention, diagnosis, and treatment of individuals and their families.

Guide to Interpreting Genomic Reports: A Genomics Toolkit (CSER Consortium; February 2017) 
Genomic tests and their results are new to most healthcare providers. These reports are complex, involving scientific and technical concepts not generally learned in medical school. The Practitioner Education Working Group of the NHGRI Clinical Sequencing Exploratory Research (CSER) consortium developed this web-based guide for non-genetics practitioners to explain the different types of data found in whole genome sequencing (WGS) or whole exome sequencing (WES) test reports. The goal of this guide is to provide a resource to a physician (or other practitioner) who may be caring for a patient who has had WGS or WES performed and is uncertain what the different categories in the test report (diagnostic, incidental, carrier) mean and what type of next steps should be considered, and helpful links. There is also an embedded glossary of genomic terms.

Definitions of Genetic Terms

Information About Specific Diseases

General Information
Rare Diseases

Tools for Collecting Family History

Locating a Genetics Clinic and Genetics Health Professionals

Clinical Trials Resources

Last updated: April 6, 2020