The Difference Between Genetic and Genomic Testing

What is the difference between genetic and genomic testing?

genetic and genomic testingYou may think that genetic and genomic testing refer to the same thing. They are actually quite different. But, don’t worry, you’ll soon know how to tell them apart. Dr. Kelly Shimabukuro is a medical oncologist. She explains the difference between the two types of cancer tests in this video.

Its important to learn the distinction between these two tests if you think you may need them. If you need a little reminder, click on the video below and listen to what Dr. Shimabukuro has to say:

Video Transcripts

Kelly A. Shimabukuro: A lot of times, genetic and genomic testing are used interchangeably, but the way I think about the two types of testing are for me it is different. So, genetic testing is looking at a lot of times the inheritance of patterns of different genes and how they may relate to cancer. So, an example would be for breast cancer, a genetic test that we would do would be BRCA, looking at BRCA expression in terms of determining whether if you have that gene, you are at risk for breast cancer. In colon cancer, it is looking doing specific test, genetic testing to see whether or not you are at risk for something called Lynch syndrome, which is a type of defect in a gene that makes one at higher risk for developing colon cancer. So, genetic testing I think of as testing for inherited or hereditary diseases.

Genomic testing I think of as testing that is done on one’s tumor sample, so that tumor may have a genetic basis, meaning it may have been inherited, but genomic testing is done specifically on a patient’s tumor sample to help look at different genes that may be involved in how that cancer developed or potentially as target for treatment down the road. So that is the way I differentiate it in my mind and it sometimes is used interchangeably, which makes it confusing for people, but genetic testing I think of as trying to see whether or not a disease is inherited and genomic testing I think of as testing that is done on one’s tumor sample that may help with treatment approaches down the road.

Kelly Shimabukuro
Dr. Kelly Shimabukuro is currently the Assistant Clinical Professor of Medicine at the University of California, San Diego department of medicine. She specializes in the management of gastrointestinal cancers including colorectal cancer, pancreatic cancer, esophageal cancer, hepatobiliary cancer and anal cancer. She has a particular interest in hepatocellular cancer and is working closely with our multidisciplinary hepatology team in the management of these patients. She has specialized training in clinical trial design and implementation and is integrating this into her practice.


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