Published On June 18, 2018
IN NOVEMBER, THE FOOD AND DRUG ADMINISTRATION ANNOUNCED that it would simplify the approval process for direct-to-consumer genomic tests. This move is likely to boost the number of people who get at least part of their genome sequenced—a number that may reach as high as 2 billion by the year 2025, according to a 2015 PLoS study. That doesn’t guarantee, however, that once people acquire their genomic data, they will be able to understand it.
“Expecting people to manage their genetic testing process is like asking them to interpret their own MRIs,” says Bryce Mendelsohn, a geneticist and assistant professor of pediatrics at the University of California, San Francisco, School of Medicine. Mendelsohn is the lead clinician at the Preventive Genomics Clinic, where healthy patients can get their genes sequenced and interpreted by medical professionals. The effort—one of a handful of similar initiatives—aims to improve overall genetic literacy.
Q: Why did your team open this clinic?
A: More and more of our patients were coming in with direct-to-consumer test results. Many were confused or anxious, which could have been avoided if they had done their testing and counseling through medical channels. That kind of clinic didn’t exist, though, so we decided to build one ourselves.
Q: What’s wrong with DNA tests from private companies?
A: One problem is that these companies screen for a very narrow range of diseases and the most common mutations linked to them. So when a commercial test doesn’t raise any alarms, it doesn’t necessarily mean that someone is risk-free. Another problem is that people can panic when they test positive for a gene associated with a serious disease, such as early-onset Alzheimer’s. But they may not know that genes are only part of the equation.
Q: Is there an educational component to what you do?
A: Absolutely. Our product is education, not a test. When someone comes in, one of the first things I ask is, “What motivated you to come here?” Many have some risk factor—a family history of cancer, a mother who died of ALS, or an ethnicity associated with a certain disorder. I explain what current technology can do and what it can’t—and of course sometimes it won’t be helpful at all in their case. If they decide not to get further screening, that’s okay with us.
Q: Are people generally well informed?
A: I find it is very mixed. Some patients ask informed and detailed questions. At the other extreme, some buy into concepts about what genetic screening can and can’t do that are not widely accepted. So there’s really a huge spectrum.
Q: What tests do you offer?
A: People can screen for their genetic risk of adult diseases, or do “carrier screening,” which looks for diseases that might be passed on to children. They can also get a pharmacogenetics test, which looks at how their bodies might be predisposed to respond to certain medications. We can also sequence their whole exome—all of the genes that produce proteins. Patients then possess all of their most significant genetic data, which can then be referenced as more discoveries are made.
We bill insurance for all tests, but most people end up paying because the tests are still considered elective. The first three tests are $250 each and whole exome sequencing costs $3,500, although this price will probably come down with time.
Q: Are you opposed to consumer genetic tests?
A: The consumer demand for these tests is not currently something that brick-and-mortar academic centers can keep up with, even if this model spreads. But I think there are any number of ways to deliver better information and counseling with genetic data, even with these companies. What matters is that it is accessible and of high quality—and perhaps as importantly, that it is motivated by a desire to inform and empower, and not just to sell tests.
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