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November 12, 2009

Direct-to-consumer genetic tests:

Risks, benefits, inadequate regulation

Thanks to recent advances in understanding of the human genome, today’s consumers can DNA+$purchase their own genetic tests online or on pharmacy shelves, no doctor needed.

Test kits are advertised to assess one’s genetic predisposition for conditions ranging from restless leg syndrome to breast cancer.

And Jerry Springer and Maury Povich could find themselves out of the baby mama drama business  — consumers can buy genetic test kits for paternity and other non-medical issues such as ancestry.

The rise of direct-to-consumer genetic testing has both risks and benefits, and regulation has not kept up with the technology, according to an expert in law and genetic policies who spoke here recently.

“If you read the newspapers, it seems like a new gene and its function and its effect on health are being discovered every day,” said Gail H. Javitt, who delivered the annual Mark A. Nordenberg Lecture in Law, Medicine and Psychiatry, “Direct to Consumer Genetic Testing,” Nov. 5. Javitt is former law and policy director at the Johns Hopkins Genetics and Public Policy Center and currently research scholar in the Berman Institute of Bioethics at Johns Hopkins and attorney in the food and drug regulatory practice of Sidley Austin.

Gail H. Javitt

Gail H. Javitt

Citing recent headlines purporting to find genetic links to obesity, schizophrenia and addiction, and even to fidelity or belief in God, she said the completion in 2003 of the Human Genome Project (which identified all the genes in the human DNA and the order of the chemical base pairs that make up the genes) has  “led to a whole range of debate over what is genetic and what is not.”

The vast majority of a person’s DNA —99.9 percent  — is the same between any two humans, but the remaining 0.1 percent accounts for differences in appearance, health and risk of disease, she said.

The testing made possible by our increasing understanding of the genome has many uses. Individuals may seek testing to find whether they have inherited a genetic condition, are predisposed to an illness or risk passing one along to their offspring. Genetic testing also may be used in tumor typing because understanding a tumor’s genetics can help doctors determine the most effective treatment.

Other genetic tests can help determine ancestry or be useful in forensic testing for law enforcement.

Among the newest are pharmacogenetic tests that can determine which drug and what dosage may be best for a particular individual, based on his or her genetics.

Javitt noted that a voluntary registry (at genetests.org) used by traditional labs lists genetic tests for more than 1,800 diseases. She noted that is an undercount of the tests available because the listing typically doesn’t include the direct-to-consumer (DTC) tests that are available.

At one time, to obtain genetic testing, an individual would meet with a geneticist who would take a family history and decide whether to order the test and where to send it for analysis. There would be pre-testing counseling to inform the person what might be discovered. When the test was completed, the doctor received the results and the patient received additional counseling on what the results meant.

Many factors have contributed to a change in which doctors are bypassed and individuals can order their own tests, Javitt said, labeling direct-to-consumer testing the result of a “perfect storm” of technology combined with a lack of oversight.

“It’s much easier to interpret DNA sequences and the cost is declining,” she said, making for a low barrier to market entry for companies who want to market such tests. In addition, there is little governmental regulation, and the Internet has made it easy for individuals to shop for their own genetic tests.

In direct-to-consumer testing, the buyer requests the test and receives the results without a health care provider as an intermediary, Javitt said. DTC also can refer to the advertising campaigns run by test providers who want to encourage people to request a particular test from their doctor.

Javitt said about three dozen businesses currently offer DTC testing for a total of about 50 conditions. The process is simple, she said. The customer receives a collection kit for blood, saliva or cells from inside the cheek. The company analyzes the sample and sends the customer a report.

Tests range from recreational — Do you have wet or dry earwax? — to serious — determining one’s risk of getting diabetes, cancer or heart disease, for example.

Some such testing already is passé: So-called “nutrigenomic” tests that advised individuals about what to eat based on their genetic profile have given way to broader profiles of a person’s genome and pharmacogenetic testing.

Javitt cautioned that there is no standardization among these companies: Some stick to offering either health-related or non-health related tests; others do both. Some may offer counseling; others send only a report. Some do their own lab analyses; others do not. Privacy policies may vary as well.

Pros and cons

The new market for such tests has both risks and benefits, Javitt said.

On the positive side, “It’s clearly lowering the bar to access,” she said. Those who prefer to undergo testing on their own or have privacy concerns can order tests themselves. “It gives personal control over your health, over your destiny,” she said.

The results can provide additional knowledge and insight about one’s self and family and can foment lifestyle changes.

Javitt noted that Francis Collins, who led the Human Genome Project, discovered through genetic testing that he carries two copies of a risk factor for diabetes, which prompted him to lose 20 pounds.

Negative concerns about genetic testing aren’t limited strictly to the direct-to-consumer tests. Lab quality, test accuracy and validity are among the potential question marks for any genetic testing.

But in the case of direct-to-consumer tests, buyers also may be confused and unable to properly interpret complicated results. They may be victimized by exaggerated claims, or perhaps fail to consider the consequences of testing on themselves and their families.

“We really don’t know whether any of these things are happening,” Javitt said, noting that there is no profile of who seeks this information, what they’re doing with it and how their lives are impacted, although the Genetics and Public Policy Center is undertaking a survey to find out.

A U.S. Government Accountability Office report on nutrigenetic tests purchased online concluded that the tests can mislead “by making predictions that are medically unproven and so ambiguous that they do not provide meaningful information to consumers,” Javitt said.

And a recent research project submitted five individuals’ genetic samples to seven test firms to test for 13 diseases, Javitt said. It found that 50 percent or fewer results were the same across all seven companies. “Not ready for prime time was the conclusion,” she said.

Privacy concerns over what the lab might do with one’s genetic sample and potential discrimination should information be released without one’s consent also need to be considered. The decision to have a genetic test may impact not only the individual, but also his or her ancestors and descendants, she noted.

Concerns about privacy go beyond one’s own request for testing.

“Not only can you find out information about your genome, but so can other people,” Javitt noted, adding that the use of so-called  “abandoned DNA” that could be found, for example, on a discarded cigarette butt, traditionally has been used by law enforcement but now could be in anyone’s hands. There has been particular societal concern about employers’ or health insurance companies’ potential use of such information, she said, noting a law was passed last year prohibiting genetic discrimination by employers.

Javitt pointed out that individuals might not be the only ones interested in their genetic test results. Others might want to know, perhaps in the case of infidelity testing and its corollary, over-the-counter paternity testing. “In theory, anybody can purchase that kit and do paternity testing,” she said.

Regulation

Regulation of this new realm has not kept pace with the technology.

The Center for Medicare and Medicaid Services oversees the quality of clinical labs that conduct health-related testing, but doesn’t analyze clinical validity of the meaning of lab tests.

The Food and Drug Administration regulates the tests labs purchase to do the testing, although that, too, applies only to medically related tests and doesn’t cover tests created in-house by a lab.

The Federal Trade Commission regulates deceptive trade practices, such as false advertising claims.

“Yes, there is oversight,” Javitt said, but the regulations that exist tend not to apply specifically to genetic tests. “Retrofitting them can be a challenge,” she said.

So what approaches can be taken? Should it be the status quo, which essentially is “buyer beware”? Or should there be a voluntary certification process — a sort of Good Housekeeping seal for test providers? Should there be heightened enforcement for false or misleading claims or requirements for third-party review of tests?

It remains to be determined.

“Clearly genetic science has moved faster than policy, which is not a surprise,” Javitt said. “The current regulatory framework doesn’t fit. There are gaps in oversight for all genetic tests, but that are particularly apparent and worrisome when you talk about genetic testing directly to consumers.

“There is not protection for the privacy of genetic information with the exception of the genome, and we don’t really know the impact of genetic testing on the public, but we hope to get updated soon.”

—Kimberly K. Barlow

Filed under: Feature,Volume 42 Issue 6

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