By now, most of us have become well acquainted with genetic testing — whether we’ve done it personally or not. For geneticists, there’s never been a more exciting time to work in this field, as new discoveries happen all the time. To that end, we sat down with Ellen Matloff, a certified genetic counselor and CEO of My Gene Counsel, a digital health company helping to scale genetic counseling and testing and keep patients and clinicians updated, to inform us on what we should know about genetic testing, when to get retested, and all the exciting developments on the horizon.
The article has been edited for length and clarity.
Everyday Health: You were a gene counselor before testing was more widely available. What tools did you have to help identify people who might be at higher risk?
Ellen Matloff: I worked at Yale before testing became available for BRCA1 and BRCA2 mutations. [BRCA1 testing became available in 1995; BRCA2 in 1996.] We would take a detailed personal and family history, called a pedigree, and based on that alone we made risk assessments. People made surgical decisions based on this.
EH: When the BRCA mutations were identified to be linked to cancer risk, what type of impact did it make?
EM: It was huge. Instead of giving people an estimate based on family history, I was able to take a blood sample and get an answer that, yes or no, there was a disease-causing mutation in their family. It was groundbreaking.
EH: How did that change when testing for BRCA1 and BRCA2 became more available? How did it change your ability to test people at higher risk or with a family history?
EM: We now had an actual test to offer them. For example, if a mother had early-onset breast and ovarian cancer and came in with three daughters, we would offer testing for the mother first. If we found the mutation in the mother, we could then test everyone else and get a definitive test result. It was thrilling and miraculous.
EH: You were part of the movement to make BRCA testing more available. Can you tell us about that?
EM: I did this first at Yale just in terms of educating physicians, other clinicians, and the general public. I also worked to make the test more widely available. Patents that were issued for BRCA1 and BRCA2 limited how we could use them both in the clinical and research setting. That fight started in 1998 and it took until 2013 for those patents to be abolished by the Supreme Court.
EH: Since the BRCA genes were identified, many more have since been discovered. Can you give us a rundown of the different genes linked to higher cancer risk?
EM: There are so many. Depending on the company doing the genetic analysis, the panel may have 10 genes, many have 40, and some may contain 140 genes. Some involve breast cancer, ovarian cancer, and other types of cancer. There are pros and cons, however. If you’re testing for these other genes, we can figure out what the genes mean. But if you carry a mutation in one of these genes that we know little about, you won’t know what that could mean for you or your family, how to reduce your risk, or how often you should maintain surveillance. People get caught in those cross hairs. Also, your insurance may not cover surveillance or risk reduction.
EH: If you were tested back in the day, when it first became available, does that mean you’re done testing, or should you get tested again?
EM: If you were one of the original families, where we tested the affected mother and found a deleterious mutation, and also found it in her sister who had ovarian cancer, you may not need to get tested again because we found the root cause of what was causing cancer in the family. For people who tested negative, or those who may have had a variant of uncertain significance, or if you want more information, you might be a candidate for genetic testing. I’d suggest reaching out to a certified genetic counselor to see if you’re a eligible for more testing.
EH: Are over-the-counter test kits, like 23andMe, accurate for testing for BRCA and other genes related to cancer risk?
EM: I hear "I’ve had genetic testing and I’m good" so often that it pains me. When I probe, I learn that they did 23andMe and came up BRCA negative. I’ll ask if they’re of Jewish ancestry and they may say they’re not. The reason I ask is that 23andMe only identifies three common Jewish variants while there are hundreds or thousands of variants found in BRCA1 and BRCA2 that are found in other ethnic backgrounds that aren’t identified through 23andMe. People think they’ve had the whole enchilada if they’ve done 23andMe or Ancestry. They soon realize that they haven’t had clinical-grade testing.
EH: What should you do with the results and how do you get help making sense of everything?
EM: The best way is to work with a certified genetic counselor. Also, you don’t have to go to someone near you as they’re available through telehealth and digital platforms such as My Gene Counsel.
EH: What do you think is the most common misconception about genetic testing and breast cancer risk?
EM: Perhaps the most common is that BRCA1 and BRCA2 are the only genes involved and that they happen mostly in people of Jewish ancestry and only in women. Another misconception is that the BRCA gene is linked with only breast cancer when the BRCA1 and BRCA2 mutations are associated with other cancers, including ovarian, fallopian, pancreas, prostate, and male breast.
EH: Does most insurance cover genetic testing and repeat testing?
EM: Most insurance companies will cover genetic testing when it’s medically indicated — meaning if you likely have an inherited mutation based on personal or family history that requires you get tested.
EH: Is there ever a situation where someone shouldn’t be tested?
EM: If someone learns of their testing options and has informed consent, but doesn’t want to be tested, that’s their decision. Also, if you speak to a genetic counselor in person or on the phone, it’s just to learn about your options. You’re not locked in. You can opt out.
EH: What does the future look like when it comes to genetic testing?
EM: Genetic testing is evolving at a remarkably fast rate. Germline testing is available, which evaluates genes that get passed down in families. We can also test tumor cells, which tells us what type of therapy will respond best and if a patient is a candidate for specific type of treatment. Testing is changing so fast that even the best specialists at the best centers are overwhelmed with the amount of genetic testing products available. We’re also seeing a lot of errors. That’s why it’s important to see a certified genetic counselor. If you’re looking for a counselor, check out the National Society of Genetic Counselors. A counselor will truly understand your test results and help your family members understand them, too.