Does Genetic Testing Hold the Answers to Your Health?
Genetic testing used to be a procedure you would have done at your physician’s office or at a hospital, to rule out suspected genetic conditions or to help determine your chance of developing or passing on a genetic disorder. But with advancements in access and technology, genetic testing has made its way into homes across the globe due to the popularity of ancestry mapping skyrocketing over the last decade.
Most people are aware that our genes determine things such as our eye color and hair color and whether or not we have dimples. But our genes can also reveal many things about our health, including how our bodies age and perform physically and mentally. Genetic testing analyzes particular genetic markers to allow insight not only into your family tree but also whether you carry genetic markers associated with risks for certain health conditions.
We spoke to Sara Pirzadeh-Miller, a certified genetic counselor and assistant director of the Cancer Genetics program at UT Southwestern Medical Center and Texas Health Dallas, to learn more about direct-to-consumer genetic testing and what you should consider before purchasing a kit.
What are the advantages and disadvantages of having genetic testing so accessible to the general consumer?
“The ability for many consumers to consider genetic testing, because it’s at a price point that they can handle without any insurance coverage, has allowed access to a lot of people who wouldn’t have had it otherwise,” Pirzadeh-Miller explains. “However, I think the downside to this is the opportunity for misinformation based on not understanding what information they are receiving and what it means in a practical sense.”
Pirzadeh-Miller notes that while many genetic testing vendors work hard to make sure they have applicable information and resources available on their websites and in their reports to help people digest what their report is saying, there is still an opportunity for confusion or even panic.
“We still have a lot of consumers going to their doctors or genetic counselors needing help interpreting their report, and they’re shocked to find out the limitations of their test and that in most cases their results are not clinically applicable.”
What kind of limitations?
“A great example is with the BRCA genes,” Pirzadeh-Miller says. “23andMe does have FDA clearance to test for the BRCA 1 and 2 genes, the most common genes for hereditary breast cancer, but they can test for the three most common Ashkenazi Jewish founder mutations in those genes.
“I’ve had patients come in and tell me they’ve had genetic testing that includes BRCA1/BRCA2 testing through one of these retailers and they believe they’ve had the full test for both of those genes. We then have to educate them that unless they are of Ashkenazi Jewish descent, only in that case would I feel a little bit more confident that they had the BRCA testing that applied to them. But there are still lots of other genes, in addition to the rest of the BRCA1/BRCA 2 genes, that really were not analyzed in that test that could still be applicable to understanding cancer risks for the person and for their family.”
What do you mean by ‘not clinically applicable’?
“The information is interesting, for sure, but it doesn’t always doesn’t typically mean a direct action or treatment would be recommended based on the result,” she says. “It’s really important to remember that for any disease there is more that goes into your risk than just a genetic marker. Many of the health conditions that they test for are multifactorial conditions. This means your family history plays a part, your own personal risk factors play a part and the environment/external factors. There are a variety of considerations that play into what your risk might actually be besides just a genetic marker.”
What should consumers keep in mind if they want to purchase one of these kits?
“You have to be an educated consumer. Read, read, read,” she exclaims. “Look at the company’s website carefully to understand what testing they’re offering and what exactly it examines. Some companies offer genetic counseling services as part of the package to help consumers understand their test results.”
Pirzadeh-Miller says you need to keep in mind that different companies have varying genetic testing technologies they use, as well as different algorithms for how they may interpret their findings. Learn more about their testing process and procedures.
After everything you know about genetic testing, do you think it’s worth it to buy one of these kits?
“I think it can be interesting information to learn,” she says. “I think at the very least it can inspire conversation to make sure we are following up on appropriate risk-reduction and screening options, as well as other important health care recommendations to do all we can to live a healthful lifestyle. But buyer beware. Know what you are getting into and know what to expect. Additionally, there may be findings that do require appropriate follow-up and confirmatory testing, such as if a BRCA1/BRCA2 mutation common in the Ashekenazi Jewish is discovered. Armed with understanding the concerns and potential benefits of this information, people can make their own determination if testing through a direct-to-consumer genetic testing company is right for them.”
What’s your take-home message for any consumer considering genetic testing?
“The last thing I want is for someone to take this one test and think it’s all of the information that they need related to their health care and the decisions they need to be making to live a healthful life,” Pirzadeh-Miller explains. “You need to have a conversation with your health care provider about putting it into the context of your own personal and family medical history.
Texas Health is committed to providing quality care throughout North Texas and beyond. While various technologies and services are discussed here, not all of our hospitals offer every treatment and diagnostic technology highlighted. Call 1-877-THR-WELL to learn more about genetic testing and counseling services at a Texas Health hospital near you.
To learn more about Sara Pirzadeh-Miller and the Cancer Genetics program at UT Southwestern Medical Center, please visit their website. To learn more about the Cancer Risk and Prevention Program at Texas Health Dallas, please visit their website.