Growth Of Genetic Tests Concerns Federal Panel

WASHINGTON — The science of genetic tests is marching ahead and so are efforts to sell them directly to consumers who are willing to send in a check and a bit of saliva to learn whether they are at risk for a disease.

What is not keeping up is regulation and oversight, according to a federal advisory panel. The panel concluded that a growing number of the tests are being marketed with claims that are unproved, ambiguous, false or misleading.

Millions of people have already taken the tests, a relatively new tool that even many doctors have yet to master. Test results can provide information to help prevent, detect and treat hundreds of conditions including cancer, heart disease, diabetes, cystic fibrosis and blood disorders.

The results can lead to momentous decisions. For example, women with a family history of breast cancer rely on them in deciding whether to have surgery to remove breasts or ovaries as a preventive measure.

With use of the tests growing at an explosive rate, the panel concluded that patients could be harmed. In most cases, the tests do not pose a direct physical risk; but, the panel said, if a test is inaccurate, patients may be given risky, unnecessary treatments or denied treatments that would be highly beneficial.

In addition, the panel said, most doctors lack the training and expertise needed to interpret genetic tests, and many are unfamiliar with professional guidelines for their use. Although professional societies play an important role in making sure their members get up-to-date information, the panel said, “they cannot keep up with the pace of development of genetic tests.”

While the report does not focus on the ethical and social consequences of genetic testing, it does note that companies now market many tests directly to consumers, bypassing doctors, a trend that it said has raised “significant ethical concerns.”

Doctors themselves have expressed concern about the pluses and minuses of tests — like a new one that can predict whether a man is at risk for prostate cancer — that provide information but leave people at sea about how, or whether, to be treated. Medical ethicists have asked whether insurance companies might try to limit coverage to someone who had learned that he was at risk yet showed no signs of having a disease.

The 15 members of the advisory panel are doctors, research scientists and lawyers who are experts in medical genetics. They represent constituencies with a variety of reasons for being interested in genetic testing, including universities, drug and biotechnology companies, hospitals, laboratories and an insurance company.

The genetic tests that were the focus of their work analyze DNA (or its chemical cousin, RNA), chromosomes, genes, enzymes or other proteins to detect mutations related to disease or health. Test material is obtained from cheek swabs, blood samples, biopsies and other tissue specimens.

Some executives in the genetic testing industry say it is capable of regulating itself while others say they would welcome more federal standards to provide reassurance to consumers.

Rosalynn D. Gill, chief science officer of Sciona, based in Boulder, Colo., said the company had performed tens of thousands of “nutrigenetic tests,” sold directly to consumers over the Internet and through other channels. The results of the tests are used as the basis of recommendations about a person’s diet and nutrition.

“This industry is growing like mad,” Dr. Gill said. “We would welcome more federal regulation. It’s unclear what regulatory requirements apply to our products.”

But Alan B. Mertz, president of the American Clinical Laboratory Association, a trade group, said that overly stringent regulation of genetic tests could “stifle innovation.”

In any case, the advisory panel found, federal officials are unsure how to regulate the tests and the laboratories that perform them.

One arm of the Department of Health and Human Services, the Centers for Medicare and Medicaid Services, regulates the operations of clinical laboratories, including those that handle genetic tests. Another arm, the Food and Drug Administration, has the power to regulate genetic tests as medical devices. The Federal Trade Commission polices advertising and marketing.

No federal agency even has a complete list of all the tests. The panel concluded that more than 1,100 genetic tests are currently available, although some geneticists put the number much higher. Current genetic tests may be useful to 2 percent of the population, the panel said, but that figure could grow to 60 percent with tests now being developed.

Federal health officials say that some genetic tests are scientifically sound, some are highly questionable and many appear to fall somewhere in between.

In the final draft of its report, the panel, known as the Secretary’s Advisory Committee on Genetics, Health and Society, also said that “there is currently no requirement that test providers disclose information to support claims about the accuracy and validity of testing,” and scientific evidence for the value of some widely used tests is sparse. The panel said that doctors and patients cannot be sure whether the tests will predict or diagnose a particular disease as promised because “the Food and Drug Administration is not currently assessing the clinical validity of most genetic tests.”

Even within the government there is debate over whether more federal regulation is the answer. The panel found much confusion and uncertainty about the division of labor among federal agencies.

For instance, one genetic test, known as MammaPrint, used to predict whether breast cancer will spread to other parts of the body, was cleared by the food and drug agency last February.

But another genetic test, Oncotype DX, which uses a different technique to predict the recurrence of breast cancer, has not been submitted to the F.D.A. for review even though it has been on the market since 2004.

Randy W. Scott, the chief executive of Genomic Health, which developed Oncotype DX, said its laboratory was regulated and certified by the Centers for Medicare and Medicaid Services, so there was no need for review by the food and drug agency.

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