Direct-to-Consumer Genetic Testing for Inherited Cancer Risk

Morgan Turner, MS, CGC, is a Virginia-licensed and nationally board-certified, cancer-specialized genetic counselor at Inova Schar Cancer Institute. She joined Inova in June 2018.

Many patients are surprised to learn that the majority of people who are diagnosed with a cancer do not have a genetic (or inherited) cause for their cancer. Indeed, it is a minority of individuals and families who are born with an inherited “predisposition,” or higher than average risk, of developing cancer due to a genetic “mutation,” or error.

In the nearly three decades since the discovery of BRCA1 and BRCA2, genetic testing for inherited cancer risk is more comprehensive and more popular than ever before. In recent years, a growing number of clinical (or medical-grade) and direct-to-consumer (DTC) genetic testing laboratory options have become available, with a wide range of quality, cost and access points that can vary dramatically from one laboratory option to another. With so many options for accessing genetic testing to learn more about your risk of cancer, what are some of the factors that are important to consider?

Content and Quality

The availability of genes and technologies for cancer predisposition genetic testing is increasingly the biggest difference between clinical genetic testing laboratories and DTC laboratories. Generally, genetic testing performed by a DTC lab may only analyze the most common mutations seen in the most common genes related to cancer risk. For example, one popular DTC genetic testing laboratory offers genetic testing for inherited predisposition to breast cancer, but it only tests the two most common genes related to breast cancer risk – BRCA1 and BRCA2 – and only for the three mutations that occur more frequently within the Ashkenazi Jewish population.

In comparison, a clinical genetic testing laboratory’s testing for inherited breast cancer predisposition may include almost 20 different genes and would test these genes for thousands of possible mutations. In addition, there are panels of genes that can test for mutations in multiple different genes associated with several types of cancers, including breast, colorectal, prostate and other more rare types of cancer.

Most of my patients are also surprised to learn that DTC genetic testing laboratories don’t have to follow the same quality standards as clinical laboratories do. Because of this, we cannot make medical management recommendations based on the results of DTC genetic testing, and any mutation found through this type of testing must be confirmed with a clinical genetic test. My patients often ask whether they need more genetic testing after completing DTC genetic testing, and unfortunately my answer is almost always a resounding “yes.”

Cost

DTC genetic testing laboratories and clinical laboratories increasingly have comparable prices for genetic testing. This is because the cost of clinical genetic testing for inherited cancer predisposition has fallen dramatically. Today, clinical genetic testing often costs a few hundred dollars (or less) if the test is not covered by health insurance. However, the cost of clinical genetic testing can vary depending on the choice of lab and insurance coverage. Talking with a genetic counselor can help individuals ensure that the most comprehensive test is ordered with consideration of cost and insurance provider.

Privacy

Clinical genetic testing is considered a medical test. Therefore, this type of genetic testing is protected by the laws that apply to private medical information, such as the Health Information Portability and Accountability Act (HIPAA).

However, DTC genetic testing is not considered a medical test. Therefore, these laboratories are not required to protect their customers’ genetic testing results in the same way or to the same degree as a medical laboratory must. Some DTC genetic testing laboratories even reserve the right to sell your genetic information or use your information for research without having to ask your permission first. These policies may be only communicated to their customers in the “fine print.”

How a Genetic Counselor Can Help

Working with a genetic counselor as part of your medical team can be helpful to anyone who is considering genetic testing for inherited cancer predisposition. The Inova Cancer Genetics Program serves those who are concerned about the possibility of inherited cancer based on their personal and/or family history. Services are provided by our team of board-certified and licensed genetic counselors trained in genetic risk assessment.

Our expert team helps patients and their families navigate through complex medical information and understand the practical and ethical implications of genetic testing. If you are interested in a consultation, please contact our referral line at 571-472-0444.

1 Comment

  1. Missy on September 1, 2021 at 12:58 pm

    It is SO important for people to understand that the vast majority of breast cancer patients do not have the BRCA mutations that cause breast cancer. Medical professionals, when reviewing genetic screening results with patients, need to clearly and overly explain this. A friend of mine whose mother and maternal grandmother died from breast cancer recently had the genetic screening, and upon hearing the news that she did not have BRCA mutated genes, she believed she would never get breast cancer. I had to explain the reality to her – clearly there is a family history/genetic connection, it’s just not based on the BRCA mutation.

    Separately, I had genetic counseling/screening done through the Inova system sometime between March and June 2018. As mentioned in this article, I do not have the BRCA mutations that cause breast cancer yet I had breast cancer. I was told I’d be notified if any new gene combinations or observations about my genetic results came to light over the years. I have not heard anything but I assume there are learnings that have been gleaned from my results and others. Just curious what triggers an update to be sent to patients that were screened yet don’t have the cancer-causing BRCA mutations?

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