By CRG staff - interview with Adele Schneider

Adele Schneider, MD, is Director of Clinical Genetics at the Victor Center for Jewish Genetic Diseases at Albert Einstein Healthcare Network in Philadelphia. She was invited to speak at the July FDA hearings on consumer genetic testing (statement printed below).


Are very many direct-to-consumer genetic testing companies trying to tell people whether they are a carrier for Tay-Sachs?

Many of them are, because the test has been around for a long time, it's a severe disease, and people know about it. It fills all the criteria for an important disease that you would want to screen out of the community. The detection rate, if you do it with enzymes, is good. If you do both the enzyme and DNA test, the detection rate is 98%; but if you only do the DNA, it's 88.6%. The DNA test is looking for specific mutations in the Jewish community, but the Jewish community is not monolithic—the demographics have changed, so you can't just test the DNA.

And I assume none of these genetic testing companies have an option to include the enzyme test?

The ones that are direct-to-consumer do not, because they're using saliva and they would need a blood sample.

I haven't seen the results that they provide, but how do the companies only using saliva samples frame the results?

They say in the report that if you are negative, your risk is reduced—they're careful about that. If you're a carrier, they tell you that. What I'm concerned about is them saying your risk is reduced for Tay-Sachs when it may not be, because they didn't do the proper test.

With enzyme and DNA testing, you're going to pick up 98% of the carriers. There's that 2% residual risk, at which point your risk is so significantly reduced that you pretty much ignore it. If your residual risk is 25%, it means that one out of four people who was told that their risk is reduced in fact doesn't have a reduced risk. So it's important for people to understand, and to get counseling.

It's like if you had an X-ray and a beautician read it. You're not dealing with the people qualified to tell you about it—you're dealing with business people. If you look at the staffing of many of these direct-to-consumer labs, their lab directors are not resident lab directors and are often in other parts of the country. There is usually a PhD geneticist somewhere around, and the rest are business people.

And there's the concern about conflict of interest …

Oh, there are a lot of conflicts of interest. All of these companies have people out there who have good reputations, speaking on their behalf, who are on their payroll. To the person on the street, it looks great when a Harvard guy or a Yale guy says, "This is the bee's knees, we really love this test, it found out that we were carriers." That's great, but does this person really understand what they are saying? And how many bucks are they being paid to say it?

You mentioned in your FDA statement that you too often have been on the other side of calls from people who ordered genetic testing without seeking counseling. Can you think of any examples that stick out to you?

There was a woman who called us one afternoon and said, "My doctor did my cholesterol and breast cancer gene testing and I'm positive. What do I do?" They had just said, "Let's get your cholesterol, and let's just get your breast cancer gene while we're about it." No counseling. This is a woman whose life is turned upside down, and there's no one to explain it to her.

This happens all the time. Every geneticist has had to deal with something like that. And then we get the flipside: "My doctor didn't look at my results and told me they were fine." And they weren't fine.

You've had cases where the doctors did not even look at the results?

Yes. Babies get born with recessive diseases now and then where the mother was screened, the doctor told her she was fine, and when we go back and look, the results were positive. And the doctor says, "You know, I'm so busy—they're usually normal, so I assumed they would be normal."

Is it a matter of it being difficult for doctors to interpret?

It's a matter of the doctor not being thorough. That's why genetic counseling is so much better, because genetic counselors are thorough beyond words.

And they know exactly what they're looking for.

Exactly. And anybody who gets their screening done with a genetic counselor is going to know that the counselor double and triple checks things.

Are you finding that more people are going to genetic counselors?

A little bit. In obstetric practices it's becoming somewhat more common, but still most doctors don't really know about genetic counseling, and in places where you don't have large medical centers, often there are cities that do not have a genetic counselor. Tulsa, Oklahoma doesn't have one, though they're hiring one soon. There's a geneticist who could do it, but it's not the same as living in Philadelphia or Boston where there are hundreds of genetic counselors.


Adele Schneider, from a statement made at public meeting on oversight and laboratory developed tests, Sponsored by FDA, July 19-20, 2010:


Too often I have been on the other end of phone calls from a patient whose primary care provider ordered genetic testing without providing genetic counseling and have had to "pick up the pieces" under emergent conditions explaining to a distressed person what their test results might mean. I am concerned that companies offering direct-to-consumer testing are not necessarily obligated to obtain informed consent from customers or to include an appropriately trained medical professional in the testing process. As a result individuals who are tested may not understand the test results, may take no action when one would be beneficial and fail to take steps to prevent a problem. This might be a missed opportunity to provide good preventive care if the interaction bypasses the person's medical providers.

Some DTC companies test for the BRCA 1 and 2 mutations that occur at greater frequency in the Ashkenazi Jewish population, without counseling or adequate/meaningful informed consent. It is also possible for a minor to order testing from these online companies. Since the first principle of medical care is to "do no harm," these practices would seem to be counter to the medical model of helping patients and not doing anything that might cause unnecessary distress or harm.

Laboratories offering DTC testing may expose the public to harm in several ways. First, the failure to provide adequate guidance in test selection and proper counseling about the benefits and limitations of test results may lead to lack of recommended medical care or unnecessary medical care that would have been avoided if genetic counseling was part of the process. Test results provided by DTC companies are often not offered in a format that the average individual can understand as was noted in an article in the May 2010 issue of Genetics in Medicine. Many do not provide a health professional to explain the results. Regulation is needed to ensure that the tests are reliable and clearly explained and results provided with the help of a medical professional.

Second, there are few laws that require DTC companies to protect the privacy or confidentiality of consumer information, and some companies require consumers to consent to the research use of their samples as a condition of testing. When IRBs approve a study using DNA it has to be clear what is done with the remainder of the sample. Similar consumer protection should be provided by labs offering DNA testing.

Third, the clinical utility of many of the tests on the DTC panels has not been established. Some panels have large numbers of tests with detection rates below 10%. That is not really a useful test but makes for good advertising (as in—"we screen for over 100 disorders") but this is not "truth in advertising" and is misleading the public. I would ask that regulatory agencies and perhaps the national medical organizations clarify what detection rate constitutes a valid test, so tests in these panels actually provide useful information for the person tested. Finally, DTC test companies fail to disclose clear conflicts of interest—such as the use of paid advisors as spokespeople without disclosing their financial relationships to the company on the website.

As the medical director of a Jewish genetic disease screening program I have a specific concern relating to Tay-Sachs disease. Since the Hex A enzyme assay became available in the 1970's over 1 million people have been screened for TS disease and the incidence of the disease in the Ashkenazi Jewish community has fallen by 90%. The optimal screen for TSD is an enzyme assay with the DNA test and this has a 98% sensitivity. The enzyme assay has to be done on blood. The DTC companies are testing for TSD with DNA only (using saliva), looking at a small number of mutations that are known to be present in a homogenous Ashkenazi Jewish population. With intermarriage and adoption, the AJ gene pool is no longer homogeneous and in a recent study we published in the American Journal of Medical Genetics, we showed that if you omit the enzyme assay you will miss 11.4% of AJ carriers who do not have one of the common AJ TSD gene mutations.

My fear is that members of the public, believing that they are obtaining good medical care, will be tested by one of these DTC panels and will be falsely reassured that they are not TSD carriers when in fact their carrier status has been missed because HexA enzyme was not included in the assay. I fear that in the next year we will see an increase in births of babies with TSD to people who tried to get proper screening but instead were deceived by a DTC company that failed to disclose that the TSD screening it provided was inadequate to rule out TSD carrier status.

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