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NCBI Resources for Genetics-based Clinical Decision Support

This workshop was given on April 18, 2023.

NCBI Faculty:  Rana Morris, PhD

Workshop Duration:
  1.5 hours

Content Difficulty:  Intermediate

Target Audience:  Clinicians who are interested in incorporating genetic testing in patient care.

Workshop Description:

Using information gleaned from a person’s genome can assist clinicians in customizing their patient’s case management and increase the likelihood of a positive outcome. While NCBI has long had resources for biologists to explore what is known about genomes, genes and genetic variations, we have also added resources designed to assist the clinical community in understanding the impact of genetic variations in their patients.  Using real-world cases, this workshop will show you how to use free, high quality, online resources to assist you with your patient care.

At the end of this workshop, you will:
Understand the relevance of genetic information for clinical practice and how it can impact patient outcomes for: 
    • Disorder diagnosis for case management
    • Pharmacogenetic assessment for drug selection & dosing
Be able to find information helpful for case management by:
    • Searching for information about a gene-related disorder in MedGen
    • Finding an appropriate clinical genetic test in GTR
    • Learning about a specific genetic variant in ClinVar
    • Linking to key literature sources helpful for variant-based case management
Please note that we will not be discussing clinical practice guidelines or best practices for use of genetics in clinical practice, but focusing on using resources to find helpful information for clinical decision support.


Data Access Technology:  NCBI Website

NCBI Resources: 
MedGen, Genetic Testing Registry, ClinVar, Medical Genetics Summaries and other related resources accessible on the NCBI website

Last Reviewed: April 18, 2023