Lisa Schlager, vice president of public policy at FORCE: Facing Our Risk Empowered, offered background on the differences between genetic testing and a direct-to-consumer test, and why patients should be careful when using over-the counter genetic tests.
BY Kristie L. Kahl and Lisa Schlager
Kristie L. Kahl: What are genetic tests and how can they benefit someone who thinks they’re at risk for cancer?
Lisa Schlager: When most people think of a genetic test for cancer, they are actually thinking of a test that looks at whether they have a hereditary predisposition to cancer or if someone has already been diagnosed, whether or not that predisposition might run in their family, or maybe they have inherited it. There are different ways to do that type of test these days. You can do it with a cheek swab with some tests. Others have a spit kit, where you spit into a test tube. And there is the more traditional method through a blood draw that you can have done at the doctor’s office.
Kristie L. Kahl: More specifically, what is a direct-to-consumer test?
Lisa Schlager: So, people might not think of it as direct-to-consumer, but what we consider as direct-to-consumer or over-the-counter, is a test like the 23AndMe test, where you can buy it at the grocery store, at the drug store, and a lot of times it provides recreational information about your ancestry. But it can also provide some information about potential genetic risks, or hereditary risks, for health care conditions. In particular, it could be cancer, diabetes, heart disease, there are different tests out there that have different components to them that cover those areas.
Kristie L. Kahl: Why do you think these tests have increased in popularity over the years?
Lisa Schlager: There is an entertainment factor to it. It’s really interesting, especially as America becomes more of a melting pot, to see where we came from. But I also think that with the growth in medicine and genetics, the manufacturers of these over-the-counter tests are finding ways to incorporate testing for things that people find interesting or informative, such as for certain diseases. The issue we have here is that those types of tests aren’t really medical-grade tests. So, we have to keep that in context when someone is deciding to use one of these over-the-counter tests to look at their potential for risk of disease.
Kristie L. Kahl: What are the major differences between over-the-counter tests and if you were to see a genetic counselor?
Lisa Schlager: It’s like night and day. As an example, 23AndMe has a component where you can opt to request to test for the “BRCA” mutations. Although, it only looks for three of the potentially thousands of BRCA mutations. So, we have the BRCA1 and BRCA2 mutations that have been associated with increased risk of breast, ovarian, prostate and pancreatic cancer. And some people are interested to know if they, in fact, may have one of these mutations, but when you’re only talking about testing for three of potentially 5,000 mutations, and those three are the ones most commonly found in the Ashkenazi Jewish population, you’re going to miss a lot of information.
Looking at the fact that the Ashkenazi Jewish population is only a little bit over 2% of the US, that means 98% of the population is unlikely to have those specific mutations. And they are missing out on that information, whereas 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 to determine which testing is the most appropriate. And they would probably give you a test that is much more expansive. And we have to understand also that the BRCA mutations are not the only mutations that cause an increased risk of cancer. Now, we have dozens of mutations with names like PALB2, CHK2, APM, Lynch Syndrome – these are all mutations that cause an increased risk. If you were to test for only the three BRCA mutations, you’re really not getting good information about your potential risk.
Kristie L. Kahl: Because it’s increased in popularity, are there any pros or benefits from direct-to-consumer tests?
Lisa Schlager: It’s definitely raised awareness among the population. There has been a combination of factors that have done that, dating back to Angelina Jolie in 2013 and the Supreme Court case around patenting DNA in the BRCA genes, and then these newer over-the-counter tests. We’re glad that it’s raising awareness because that is a positive thing. And in some cases, we do find out that people do have a mutation, and that is incredibly informative information. But on the flip side, it is not something people should make medical decisions with. They need to confirm that information by seeing a medical expert. Ultimately, they have to keep it in context for what it is, which is more for entertainment or recreational for the most part.
Kristie L. Kahl: How can consumers do research to make sure that they are getting reputable tests?
Lisa Schlager: There have been a lot of reports of fraud in the media recently. People selling tests to unwitting consumers who don’t realize who they are dealing with; they don’t realize that they are being duped out of their insurance information or Medicare information. I think the important thing is if you go see a qualified health care professional, they are more likely to be able to steer you to a reputable 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. In fact, 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 mutations through an over-the-counter test, you need to confirm it with a health care provider anyway.
The other thing to be aware of is if something seems suspicious, go with your gut. Don’t play into the hands of people who are not being on the up-and-up.
Kristie L. Kahl: Are there certain characteristics of these fraudulent tests?
Lisa Schlager: Absolutely. Making promises about coverage and that everyone is able to get it covered now; 100% free; no costs to you; or if they are aggressively marketing. We’ve seen people marketing these tests at health fairs and senior centers. That is not a reputable way to do that. That is not how health care is supposed to be done. So, we advise people to seek out a trusted health care provider if you want to pursue genetic testing or explore whether it is right for you.
Kristie L. Kahl: Some of these tests are (Food and Drug Administration) approved – can you explain what this means?
Lisa Schlager: FDA approval basically means that the FDA has vetted it and determined in fact that the test is accurate for what it claims to do. The reality is the vast majority of genetic tests are not FDA approved. They are (Clinical Laboratory Improvement Amendments; CLIA) approved, which is a designation under the Centers for Medicaid and Medicare Services. So, really it comes down to knowing who is providing the test to you and making sure that the company, the name of the test provider and laboratory, is in fact a reputable ad. There are ways that consumers can look that up. But again, the best way to know that you’re dealing with a reputable lab is to go through a trusted health care provider.
Kristie L. Kahl: If someone does receive information that they’re at risk, what are recommended next steps so that they’re taking the right steps?
Lisa Schlager: So, we do see people who do a test and it comes back and tells them that they potentially have a mutation that puts them at an increased risk for cancer or another disease. The next steps, and most tests do say this in their literature, is to take that test with you to a trusted provider, whether it be to your internal medicine doctor, your OBGYN, your oncologist or a genetic counselor. And say, “This is what I found out. Can you help me understand what this means and help me verify that this information is in fact correct?”
What we are seeing some people do, which is very concerning, is to take the raw data from some of these tests and run them through a third party database or software platform that basically spits out additional information that was never intended to be communicated and they read too much into it. We want to caution people about that. It’s very dangerous, it’s very misleading. In fact, if you really want that kind of information, the best thing to do again is to talk to a genetics expert.
Kristie L. Kahl: What is your biggest piece of advice for someone who thinks they are at risk or has a family history with cancer?
Lisa Schlager: The first step would be to talk to a doctor that you have a relationship with, share with them your concerns. Most doctors will either have a mechanism for assessing your risk in the office or they’ll refer you. Ultimately there is coverage for genetic testing for people who have a family history or personal cancer history, so the cost is either nothing or very little out of pocket. People don’t need to turn to these less reliable tests in order to get the testing. In fact, they would be better spending the small amount or going through their health care provider and getting a more accurate and comprehensive test.
Transcript Edited for Clarity.