Company 23andMe recently received approval from the FDA to sell — direct to consumers – genetic tests that will check your risk for 10 conditions, including Alzheimer’s and Parkinson’s disease, celiac disease and hereditary thrombophilia.
“This is an important moment for people who want to know their genetic health risks and be more proactive about their health,” said Anne Wojcicki, 23andMe CEO and co-founder, in a press release.
The test costs $ 199. You send in a saliva sample, and in a few weeks receive reports about your genetic risk for the 10 conditions. The reports explain how much a gene variant could increase your risk of developing the condition and what other factors might play a role.
For example, if you tested positive for APOE e4 gene variant, the only Alzheimer’s-related gene variant the company tests for, the report explains how that slightly increases a white man’s risk of developing Alzheimer’s by age 75 from 3 to 4 percent to 7 percent. It also says that other genes that the test didn’t look for may also impact your risk, along with lifestyle factors, that the results do not guarantee that you will develop Alzheimer’s, and that relatively few people with a single copy of the gene variant go on to develop the disease.
We sat down with certified genetic counselor Robin Bennett to talk about ordering a genetic test kit on the Internet and receiving potentially life-altering results.
WebMD: Are there any pitfalls to ordering your own genetic tests rather than going through a health care provider?
Bennett: First, testing isn’t interpreted in the context of your health – both your health right now and your family history. So if you had a marker for Alzheimer’s disease, for example, and there’s no family history of Alzheimer’s, it probably has less significance. Likewise, if you had a marker that said you didn’t have a high risk for Alzheimer’s, but you have a strong family history of it, again that marker is less likely to be relevant. Alzheimer’s is one that has a lifestyle component.
So, when you’re ordering your own tests, you might be falsely reassured that you have fewer health risks than you do or you can think that you’re at high risk and in context you really aren’t.
Also, the consent process is different when you order these tests yourself. You could just be browsing the Internet late at night and say, “These tests look cheap and easy. I think I’ll order them.” But do you really want that information?
If you went through a genetic counselor, they would ask whether this information could affect your life insurance and your disability insurance and how you are going to share this information with your family.
A person who’s really trying to make healthy life choices in the context of genetics should think about their family history. The first genetic test is a good family history. Ask why people died in the family and how old they were. Try to get death certificates and pathology reports from surgeries or cancers. Get records from colonoscopies about what types of polyps relatives had. Then use that information to think about what kinds of genetic tests would be most useful.
(Note: Before you order the tests, 23AndMe says you read a disclaimer that the results might show you have increased risk for a condition that cannot be prevented or cured. Consumers are also warned that the results could affect their ability to get certain types of health insurance though 23AndMe will not share results with health insurance companies without your consent. You must take additional steps to demonstrate understanding and consent before you opt into your Alzheimer’s and Parkinson’s risk results.)
WebMD: What should someone do if they are confused or concerned about their results?
Bennett: The average physician does not have training to answer those questions. Most doctors would refer you to a genetic counselor, and then we don’t have the capacity to answer these kinds of questions either. That brings up another pitfall of ordering these tests: placing a burden on a health-care system that is not prepared.
Genetic counselors need to focus on people that have high health risks that are actionable, that we can help them with. To come to a genetic counselor with information that no one can interpret is a big burden on the system. Those aren’t the risk factors that we counsel people on in general. This testing is used in ways that it hasn’t been used before.
It might be more helpful if there were webinars that people could watch about what these tests mean and how to interpret them. Then the people that really do have high risk factors could go see a genetic counselor, but the average report from 23andMe is going to be very hard to interpret.
(Note: 23AndMe says it does not offer genetic counseling directly to consumers, but includes information on how to seek genetic counseling and when it might be appropriate. The company also encourages you to share results with a health care provider who might be able to interpret them within the broader context of family history and other personal risk factors and make recommendations about prevention and relevant lifestyle changes if needed.)
WebMD: Do you recommend the tests for people who don’t have a relevant family history but just like to gather as much information as they can?
Bennett: Even though people might look at it as “recreational genetics,” people have a hard time thinking of it that way when they get the report. They’re going to want to take action on this information. But I don’t think we know whether it’s information that’s been validated to use in a health-care setting. So, you have to use these tests with caution and not assume that you’re healthy or not based on this information alone.
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