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Guide to Interpreting Genomic Reports: A Genomics Toolkit (CSER Consortium; February 2017New
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.

ASHG Global Virtual Meeting: Genetics in Your Clinic: What You Can and Should Do Now: Toolkit Resources for Primary Care ProvidersPDF file
March 22, 2016. Bob Wildin, M.D. and Jean Jenkins, Ph,D., R.N., F.A.A.N.

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Definitions of Genetic Terms

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Information About Specific Diseases

General Information
Rare Diseases
Cancer

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Tools for Collecting Family History

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Locating a Genetics Clinic and Genetics Health Professionals

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Clinical Trials Resources

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Last Updated: February 13, 2017