Genetic testing has been in the news recently, and with improvements in technology has become much cheaper and more accessible for consumers. So you may be wondering, is genetic testing for me? For my family? And should I be asking my doctor for one? However as with any new technology, there remains a lot of misinformation out there about the capabilities of genetic testing. This article will highlight 3 main uses of genetic testing so that you can decide whether to ask your doctor about it the next time you are at a check up.

#1. Predicting chronic disease

The 3 most prevalent chronic diseases in developed countries are cancer, heart disease, and diabetes. A well-known success story of genetic testing is the discovery of the BRCA1 mutation in breast cancer. Genetic testing is able to uncover mutations in the BRCA1 gene, which can increase a woman’s likelihood of developing breast cancer. Genetic testing the BRCA1 and BRCA2 genes is now a common screening test for breast cancer for women with strong family history of disease.
Since the discovery of BRCA1&2, hundreds of new studies have discovered additional genes related to other cancers such as prostate cancer and colon cancer. Research studies have also found strong links between a patient’s genes and risk of developing heart disease and diabetes, especially if there is a history of these diseases in the family. Genetic testing can give you and your physician an idea of your risk for certain diseases, so that together you can be better prepared and make adjustments to your care if appropriate.

#2 Identifying possible drug side effects

Our body performs two important jobs whenever we take a drug. First, it has to absorb the drug into the blood, where it can circulate throughout the body and do what it’s supposed to do. Second, our body has to then break down (metabolize) the circulating drug so that they don’t reach harmful levels and cause damage. As with all other jobs our body performs, specialized proteins help our body absorb and metabolize drugs.

Genes are the instructions our body uses to produce proteins. Genetic testing can uncover mutations in the genes responsible for producing the proteins controlling absorption and/or metabolism of the drugs we take. Mutations in these genes can cause these pumps to malfunction and cause drug side effects or even make drugs ineffective. For example with the drug Tecta, some patients have a mutation in a drug metabolism gene that causes the protein to work faster than normal, causing the drug concentration in the blood to fall below a useful level. A genetic test for drug response can give you and your physician an idea of how your body will respond to certain drugs you might need to take, helping you to avoid drug side effects and improve treatment.

#3 Family planning/genetic counselling

If you and your partner decide to have children, genetic testing can help determine the likelihood that the child will develop certain hereditary conditions. Having each parent tested before conceiving could uncover mutations in healthy parents who may be hidden carriers of a disease. Alternatively, some parents who have an already diagnosed condition can use the results from testing to find out the likelihood that they will pass it onto their children. Thus, genetic testing can give couples more information when they are making the decision to have children.

It’s important to keep in mind that diseases are often the result of a combined effect of both our genetics and our environment. Genetic testing can only provide part of the solution, and it is always a good idea to consult with your primary care physician the results of any genetic testing, since they have a better understanding of environmental factors through your medical history. Genetic and environmental factors go hand in hand to cause disease, they should also be considered hand in hand in your treatment so don’t be afraid to ask your doctor about how genetic testing can complement your normal care!

What’s next?

Want to learn more about genetic testing? Check out this article about the 5 factors to consider when choosing a genetic test.

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