An expert raises her concerns about direct-to-consumer testing and shares ways people can protect themselves.
In an interview with CURE®, Lisa Schlager, vice president of public policy for Facing Our Risk of Cancer Empowered (FORCE) and a BRCA1 mutation carrier, discussed OTC genetic tests versus those provided by health care professionals and what consumers should keep in mind as they make health decisions.
CURE®: What are the major differences between OTC genetic tests and those ordered by a physician or genetic counselor?
Schlager: It’s like night and day. As an example, 23andMe has a component where you can opt to test for the BRCA mutations, although it looks for only three of the potentially thousands of BRCA mutations. The BRCA1 and BRCA2 gene mutations are associated with increased risk of breast, ovarian, prostate and pancreatic cancer, and some people are interested to know if they may have one of these mutations.
But when you’re testing for only three of the potentially 5,000 mutations, and those three mutations are most commonly found in the Ashkenazi Jewish population, you’re going to miss a lot of information. The fact that the Ashkenazi Jewish population is about 2% of the population in the United States means that 98% of the population in this country is unlikely to have those specific mutations.
If you were to go to a genetic counselor or a health care specialist with expertise in genetics, they would talk to you about your family history, determine which testing is most appropriate and probably give you a test that is much more expansive.
We must understand also that BRCA mutations are not the only mutations that cause an increased risk of cancer. We now have dozens of mutations with names like PALB2, CHEK2, ATM and Lynch syndrome. These are all mutations that cause increased cancer risk, and if you test for only the three BRCA mutations, you’re really not getting good information about your potential risk.
How can consumers determine which OTC tests are reputable?
There have been a lot of reports in the media of people selling tests to unwitting consumers who don’t realize who they are dealing with, who don’t realize that they’re being duped out of their insurance or Medicare information. I think the important thing is that if you go to a qualified health care professional, they are more likely to steer you to a reputable genetic test. If you’re going to do a test over the counter, look at it for what it is. It’s kind of a fun thing, and it may provide you with some interesting information, but the best place to learn about health risks and health conditions is through a qualified health care professional or genetics counselor. Ultimately, if you do test positive for one of these health risks … you need to confirm it with a health care provider anyway. The other thing to be aware of is that if something seems suspicious, go with your gut.
Should consumers be more aware of certain characteristics of these fraudulent tests?
Absolutely. (Be wary of) those that are making promises about coverage and that everyone is able to get it covered now, 100% free or no cost to you, or if they are aggressively marketing. We have seen people marketing these tests at health fairs and senior centers. That’s not a reputable way to do this. That’s not how health care is supposed to be done.
Some of these tests, such as 23andMe, have been approved by the Food and Drug Administration (FDA). What does this mean?
FDA approval means that the FDA has vetted it and determined that the test is in fact accurate for what it claims to do. The reality is that the vast majority of genetic tests are not FDA approved, they are CLIA (Clinical Laboratory Improvement Amendments) approved, which is a designation under the Centers for Medicare & Medicaid Services.
So, it comes down to knowing who is providing the test to you and making sure that the company, the test provider, the laboratory, is a reputable lab.
What is the biggest takeaway for consumers who are concerned about their risk?
Talk to a doctor that you have a relationship with and share your concerns. Most doctors will either have a mechanism for assessing risk in office or will refer you.
Ultimately, there is coverage for genetic testing for people who have a family history or personal cancer history. People don’t need to turn to these less reliable tests to get the testing.