By SARAH LUECK

Staff Reporter of THE WALL STREET JOURNAL
May 24, 2005; Page D1

The do-it-yourself craze is breaking into new territory: genetic testing. Still relatively rare even in physicians' offices, genetic tests are increasingly available directly to consumers. Without ever talking to a doctor, consumers can buy kits off the Internet that promise to tell them if they are at higher risk for breast cancer, blood clots or other medical problems.

The trend is sparking a debate over whether such direct-to-consumer sales are a good idea. Critics including bioethicists and many physicians worry that patients won't get sufficient guidance about what test results mean, how to deal with thorny family issues and whether preventive measures should be considered. And because the testing field is little-regulated, some are concerned about the accuracy of test results.

The test sellers say home kits are another way to give information to patients, who are demanding increasing control over their own health. The kits also appeal to people who are concerned about privacy, the sellers say.

Companies such as San Francisco-based DNA Direct and HealthCheckUSA in San Antonio sell tests online at prices ranging from a few hundred to several thousand dollars. The tests, which are available without a prescription, look for genetic markers and mutations in saliva or blood samples that are linked to a range of conditions -- from hemochromatosis, which is an iron overload that can lead to organ failure, to Celiac disease, a digestive illness triggered by gluten, a wheat protein. DNA Direct started selling two tests for breast- and ovarian-cancer risk in March, and says it soon will add tests related to fertility.

Many of these tests are the same kind given in doctors' offices and are backed by extensive research. Others don't have as much support, at least in published research, genetic experts say, or are using tenuous genetic links to sell vitamins and dietary supplements. Genelex, of Seattle, sells tests to tell people how well they metabolize medications and which nutrients should be increased or decreased in individual diets. Howard Coleman, Genelex's founder, says the testing his company offers "is not a complete answer, it's not a panacea, but it is at a point where it's useful."

While no one tracks overall sales of genetic self-tests, many sites say their sales are growing. Consumers have grown increasingly comfortable ordering up their own medical tests, and non-genetic screening for ailments such as high cholesterol are widely available. Genelex, which also does paternity testing, says nonpaternity sales were 25% of its sales last year; they now are about 40%. The increasing popularity of home genetic tests led the Johns Hopkins University Genetics & Public Policy Center to convene a panel of physicians, bioethicists and industry representatives recently in Washington, D.C., to discuss the advisability of these tests, though they stopped short of making any recommendations.

Genetic tests -- whether ordered by doctors or consumers themselves -- don't require Food and Drug Administration approval to be sold. The labs that conduct the tests are overseen by the Department of Health and Human Services.

Even if results are accurate, the data can be hard to interpret. Take Celiac disease. A person who lacks two genetic markers for the condition isn't likely to have the disease, so a negative result on a genetic test helps rule it out, most doctors agree. A test result showing a patient has just one of the markers wouldn't necessarily mean the person had the illness, or was likely to get it. A person who misunderstood the result could decide to make significant changes in diet and lifestyle without really needing to.

In addition, patients must contend with whether to share what they have learned with family members, who may not want the anxiety of knowing they could be at risk for a disease. Because of such complexities, "there should be a physician between most genetic testing and the patient, at least at this point in time," says Michael S. Watson, executive director of the American College of Medical Genetics in Bethesda, Md.

Ryan Phelan, DNA Direct's founder and chief executive, says the home kits give people greater control over their medical care. For instance, genetic testing for cancer risk often "is not readily available because physicians are making the choice for [patients] that it won't do that much good," she says. Ms. Phelan says DNA Direct encourages people to share test results with a physician.

At DNA Direct, the breast-cancer test work like this: The patient who orders a test online must first talk to a genetic counselor at the company about his or her personal and family history. Once the test kit arrives in the mail, the patient takes it to a lab to get a blood sample and then mails the kit back to DNA Direct. (Some tests require a cheek swab for saliva, which people can do on their own.) Within a month, a counselor calls with the results; a written report is available privately online.

HealthCheckUSA offers its customers genetic counseling services through Kimball Genetics Inc., a genetic testing lab in Denver. Kimball requires customers to supply a physician's name and contact information, and results are both faxed to the physician and mailed to the patient. HealthCheckUSA provides a physician, whom the customer doesn't meet. "We just make it practical for people," says HealthCheck President Holt Vaughan.

Consumers who order home testing often are looking to protect their privacy. But privacy has its limits. If a life or health insurer asks about genetic tests, people must answer honestly or risk not having claims paid later if the insurer finds out they lied. If the results are medically important, "that information is probably going to end up in your medical record" anyway, says Kathy Hudson, director of the Johns Hopkins center on genetics.