By Lisa Seachrist

Washington Editor

WASHINGTON — Rapid progress in genetics has left the impression that every week researchers discover another gene associated with disease. With these discoveries comes the dilemma of when to offer tests for these genetic mutations and to whom they should be administered.

Anticipating these types of issues, the National Institutes of Health and the Department of Energy established a Task Force on Genetic Testing to come up with recommendations for how to use genetic technology before these tests become widespread. At a meeting of science writers in Washington, Frances Collins, director of the National Genome Research Institute, and two members of the task force, Johns Hopkins University professor of medicine Neil Holtzman and Patricia Murphy, a consultant to OncorMed Inc., in Gaithersburg, Md., said that the time has indeed arrived.

"Market forces have certainly come to bear on the business of genetic testing," Collins said. "And companies and individuals have begun to solicit directly to the public."

Collins highlighted several current ads that have appeared in a variety of magazines. One offered genetic testing to determine the risk for periodontal disease. Another, placed by a surgeon, offered to test Jewish women for mutations in BRCA1.

"This particular ad is phrased to encourage panic," Collins said, noting that Ashkenazic Jews have a surprisingly high 1 percent rate of BRCA1 mutations. "It is clear that this surgeon expects that women with a BRCA1 mutation would want prophylactic mastectomies."

The most disturbing example that Collins had to offer was found in a gay newspaper. The ad offered testing for mutations in the CCR5 gene. Approximately 1 percent of Caucasians have mutations in both copies of this gene, which serves as a co-factor for HIV infection. "This mutation renders a person genetically immune to AIDS," Collins said. Recent reports, however, have indicated that this double mutation may not offer absolute protection from infection.

"I am not opposed to genetic testing," Collins said. "But the sad fact is that after we discover a gene for a disease, we can go more quickly to diagnostics than we can to treatment."

Collins maintained that genetic testing is different from other forms of medical testing because it predicts disease in a healthy individual rather than diagnosing a disease that already is manifest, provides information that often doesn't offer a clear treatment choice, and can result in discrimination from insurance companies and employers.

"We want to see honest genetic testing companies succeed because there is great potential for this type of information, but we need guidelines to help us hammer out when a genetic test is appropriate," Collins said.

The Task Force on Genetic Testing, sponsored by the Human Genome Project, is charged with making recommendations that will insure the development of safe and effective genetic tests, their delivery in laboratories of assured quality, and their appropriate use by health care providers and consumers. The group comprises academics, industry and consumer representatives. Holtzman, who serves as chair, said the task force would have its final recommendations after its May 19 meeting.

The task force members agree that laboratories providing genetic tests should collect post-testing data that addresses the tests' validity and utility. In addition, the task force likely will recommend that genetic testing protocols receive approval from institutional review boards.

The group has run into some snags, though. Holtzman noted that they have tabled any efforts to come up with a recommendation for the role that the FDA should play in regulating genetic testing. Currently, the agency regulates any type of medical testing kit as a medical device. While the agency maintains it has the authority to regulate genetic testing laboratories as medical services, it chooses not to .

"Companies don't create kits so they can circumvent the FDA regulatory process," Holtzman said.

Murphy, who said OncorMed is the only company that limits its tests to high-risk individuals, told BioWorld Today that the genetic testing services simply can't be boxed into a kit. "I spend an hour and a half with each patient explaining to them the benefits and risks to the tests they are contemplating," Murphy said. "The patients also consent to having the test performed, having their blood stored for future tests, and they consent at the time of disclosure. These aren't things a kit can do."

In addition, Murphy pointed out that the FDA isn't the right regulatory authority for genetic testing laboratories because the agency doesn't have geneticists on board and it doesn't have the interest in regulating the laboratories. She noted that with a little work, the Clinical Laboratory Improvement Amendments (CLIA) of 1998, which are jointly administrated by the Health Care Financing Administration and the Centers for Disease Control and Prevention, in Atlanta, could provide the appropriate type of oversight.

"CLIA is the appropriate means to regulate genetic testing service," Murphy said. "But CLIA needs to form a category devoted to genetic testing."

Murphy said genetic testing falls under cytogenetics in CLIA. Under that classification, CLIA does not require that genetic testing services be proven proficient. Murphy suggested that the most efficient way to regulate genetic testing services is to give CLIA more teeth rather than foist the responsibility onto an agency that doesn't want it.

The discussion over the utility and validity of genetic testing will continue as the NIH sponsors a consensus conference on the value of screening for cystic fibrosis carrier status from April 14 -16.

Collins summed up the dilemma facing society * as predictive tests rapidly outpace the ability to intervene * with a quote from Sophocles' play Oedipus the King, "It is but sorrow to be wise when wisdom profits not." *