Pros + Cons of DIY Genetic Testing
By Rethink Breast Cancer April 30 2018
DIY genetic testing (also known as Direct-to-Consumer, or DTC Testing) has been a hot topic in the media these days. People have confirmed information about their ethnicity and heritage by purchasing kits from genomics services like AncestryDNA and 23andMe. But just last month, the FDA (U.S. Food and Drug Administration) announced that 23andMe can now include three out of more than 1,000 known BRCA mutations. The presence of BRCA1 or BRCA2 gene mutations in customers’ test results can tell people whether they’re at a higher risk for breast and/or ovarian cancers.
While this announcement is specific to Americans, 23andMe and DIY genetic testing is also relevant to Canadians. According to an article in Maclean’s magazine, 23andMe’s services are available to Canadians too. However, Health Canada and provincial governments have struggled to decide who’s responsible for regulating these kinds of services.
But what does all of this really mean? Should we be jumping on the DIY genetic testing bandwagon just yet? Here’s what you need to know.
It puts breast health in the hands of the patient.
Probably the coolest feature of DIY genetic testing is the independence. Typically, you need a referral to find out whether you’re a carrier of the BRCA gene mutations. Your doctor decides whether genetic testing is right for you based on your personal and family medical histories. However, services like 23andMe give women the ability to access genetic information about their breast health whether they were referred or not. This can be especially helpful for women who are unsure about their family background or medical history. But most of all it gives women information that ultimately gives them the ability to have choices.
It’s relatively inexpensive.
According to the Canadian Cancer Society, genetic testing might be covered by provincial, territorial, or personal insurance plans if the test is requested by a doctor, but this isn’t always the case. So DIY services like 23andMe can often be an inexpensive alternative to traditional genetic testing. Depending on what you’re looking to test, prices for these kinds of services can range anywhere from C$100 to C$300.
It’s a convenient alternative.
DIY genetic testing is a convenient alternative because it takes out the middle man. You can take this test whenever you want, in the comfort of your own home, and the results go directly to you. All of this means you don’t have to arrange another doctor’s visit just to view your results.
It doesn’t come with genetic counselling.
One of the major drawbacks of DIY genetic testing is that it doesn’t always come with genetic counselling. So while you might be able to view your results (positive or negative), it’s difficult to determine what they really mean or what your next steps should be. In order to be truly breast aware, it’s important that a professional, such as a genetic counsellor, can explain your results to you because every situation and every person is different. Similarly, often a positive result for BRCA testing has an impact on close family members. How and when to disclose this information can be very tricky and require some counselling.
It doesn’t tell you everything.
A common misconception when it comes to cancer is that genes = destiny. Many people think they’ll automatically get breast cancer if they have a family history of the disease. On the other hand, some think that they’re “safe” because they don’t have the BRCA gene mutations. Neither of these things are true. An article by Time magazine mentioned that, while DIY genetic tests are scientifically sound, they’re only testing for two gene mutations: BRCA1 and BRCA2. There are actually 1,000+ variants of these genes that are connected to increased breast cancer risk. This means that the results from these tests can’t tell you everything when it comes to your breast cancer risk. You’ll need a more comprehensive test or a discussion with your doctor in order to get a better picture.
It’s not exactly private.
There have been a lot of concerns about whether your genetic information is private after giving it to companies like 23andMe. For example, 23andMe is known for sharing the genetic information of their customers with pharmaceutical companies and major governmental organizations like the U.S. National Institutes of Health for research purposes. 23andMe is open about how it uses customer information and has mentioned that it doesn’t include personal details when using test results for research. However, it’s important to understand privacy rights and legislation in your country. Fortunately, the Canadian government passed the Genetic Non-Discrimination Act last May, to help create clearer guidelines around privacy and disclosure.