What is Genetic Testing?

As personalized genetic testing – also known as DNA testing – becomes more available to the general public, concerns over whether that information should be shared with employers or insurance companies have become subject of heated debate. In Canada, the recent ruling of Bill S-201 –or the Genetic Discrimination Act – is aimed at keeping the results of an individual’s genetic testing private.
With that in mind, those who aren’t yet in the know are likely wondering what is involved in genetic testings, and how can results from tests help an individual reduce their risk of developing a disease through lifestyle changes or closer monitoring and pursuit of treatment options.

What is genetic testing? 
Genetic testing can be as simple as providing a blood sample or a cheek swab. But despite the ease at which a sample is given, the results could be life changing for some individuals. Genetic testing can highlight an individual’s inherited diseases, determine parentage, and even outline the possible presence of genetic diseases, or mutant genes associated with increased risk of developing genetic disorders.
According to the National Institute of Health’s Genetics Home Reference (GHR), there are several methods of genetic testing including:

• Molecular genetic tests: study single genes or short lengths of DNA to identify mutations that can lead to genetic disorders
• Chromosomal genetic tests: analyze whole chromosomes or long lengths of DBNA to identify large genetic changes like an extra copy of chromosomes that could result in a genetic condition
• Biochemical genetic tests: study the amount or activity level of proteins as abnormalities in either case could be indicative of changes to DNA the can result in an genetic disorder.

Limitations and risks to genetic testing

While there are indeed benefits of genetic testing, there are also limitations and risks. GHR outlines that for the most part the risks associated with genetic testing are related the emotional, social, or financial consequences of the results. Furthermore, tests are also limited in the information they can provide. While a test could identify if an individual has a certain predisposition for a genetic disorder, they cannot determine if the individual will show symptoms. Moreover, there are not always available treatment strategies for genetic disorders, which can make the price of knowing quite taxing for an individual.

Learn more?

Want to learn more about genetic testing? Stay tuned for our second installment that provides an overview of the types of genetic testing available to individuals.

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Securities Disclosure: I, Vivien Diniz, hold no direct investment interest in any company mentioned in this article.