Using NCBI Resources for Genotype-Based Medication Optimization

Using NCBI Resources for Genotype-Based Medication Optimization

NCBI offers a variety of clinical genetic resources to help you research, diagnose, and treat diseases and conditions. You can quickly and easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website.  

How and why should you use our resources? Consider the example below.

Your patient is a 58-year-old woman who has been diagnosed with Acute Coronary Syndrome, scheduled for an angioplasty, and she will need to take clopidogrel for at least three months. She mentions that her father died of a stroke while taking the drug and is concerned. You look into pharmacogenetic influences on clopidogrel response and use the results of your patient’s genetic test to determine if a change in the prescription is needed.  

Use the following relevant NCBI resources to gather information useful for optimizing your patient’s medication. 

book with medical symbol on front Look up Clopidogrel Response in MedGen to learn more about the phenotype and read about it from authoritative pharmacogenetics. Find therapeutic recommendations based on genotype from the Medical Genetics Summaries. You can also read a summary of the latest published research.
test tube and measuring instruments Find a clinical test in the NIH Genetic Testing Registry. 
clipboard with ATGC bases written on front with a stethoscope Search ClinVar with information from test results to learn about the patient’s variant.
Base pair letters, ATGC, in a circle Go to the dbSNP record to find relevant population frequency data for the variant. 
Drawing of books on a shelf Learn more about the variant and its impact on drug response in the NCBI Bookshelf’s Medical Genetics Summaries. 
drawing of a DNA strand and outlines of three humans For follow-up, search dbGaP to find clinical studies examining the impact of genetics on clopidogrel response. 

Want to view the full case study? Check out our video or handout. 

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