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Too Much Information
Results of Home DNA Tests Can Shock, Misinform Some Users

By Sandra G. Boodman
Washington Post Staff Write
Tuesday, June 13, 2006

Imagine being able to order a genetic test over the Internet -- to see if you have inherited a predisposition to cancer or whether there might be a genetic component to your infertility -- without having to get approval from your doctor, consult a genetic counselor or risk the fallout that might result from filing an insurance claim.

Now imagine sitting alone at your home computer and receiving devastating news: test results that will forever change your life -- and your family's -- in ways you never anticipated.

Those are the promises and perils of the nascent, growing and largely unregulated phenomenon of direct-to-consumer (DTC) genetic tests. For the price of a mail order test kit containing swabs to scrape cells inside the cheek, nearly a dozen companies now offer curious consumers the chance, without ever seeing a doctor, to learn whether they carry genes for cancer, blood disorders or other diseases. Some companies are marketing personalized diet or skin care recommendations based on DNA analysis using tests that are not widely accepted in the scientific community.

Spawned by a burgeoning interest in self-care fueled by the Web and the completion in 2003 of the federal Human Genome Project, home testing enables users to "be proactive in managing their care" from the privacy of their homes, according to San Francisco-based DNA Direct, a leading purveyor of DTC genetic tests. An article last month in Good Housekeeping pronounced the process "as simple as ordering takeout."

That kind of characterization alarms experts in genetics, a technical and highly complex specialty. Testing, they say, should remain the province of specialists who can advise, educate and counsel patients -- not of companies that may resort to hype and fear-mongering as marketing tactics or whose employees may not understand the nuances of risk and probability that are central to genetics.

Two examples of what troubles experts: A woman tested for hereditary breast cancer may mistakenly think a negative result on a home test means she can forgo regular mammograms. In fact, breast cancer genes account for only a fraction of cases. Similarly, someone who receives a positive finding on a DNA-based colon cancer screening test may have cancerous polyps that can be removed, colon cancer that has spread or neither because the test is a false positive.

In 2004 the Bethesda-based American College of Medical Genetics advised the public to avoid home tests, which it called "potentially harmful," citing the possibility of "inappropriate test utilization, misinterpretation and other adverse consequences." Genetic testing, medical geneticists say, should be ordered and interpreted only by an "appropriately qualified health care professional" who counsels families before and after testing about their risks for the presence of or susceptibility to inherited diseases, such as cystic fibrosis or various cancers, and advises them about follow-up care.

Counselors say they are worried about the impact of results conveyed online that can cause unnecessary anxiety -- or inappropriate reassurance. A positive finding can trigger extreme distress, even in patients who have undergone pretest counseling. And many patients erroneously think an elevated risk of genetic disease means they are sure to develop it.

"This can be really, really shocking, especially if you really don't know what you're getting into," said Scott M. Weissman, co-chair of the Familial Cancer Risk Counseling Group for the 2,000-member National Society of Genetic Counselors (NSGC). "Testing may do more harm than good."

Kelly E. Ormond, director of the genetics counseling program at Northwestern University and past president of NSGC, agrees. "It's not like being pregnant. There are a lot of gray areas, and correctly interpreting what those mean is really important." So, she said, is informing patients about the limitations and uncertainties of a test, such as its rate of false positives and false negatives -- advice that can be overlooked in online encounters.

Another concern is that genetic testing exists in a regulatory vacuum, notes lawyer Gail H. Javitt, policy director of the Genetics and Public Policy Center at the Berman Bioethics Institute of Johns Hopkins University.

The Food and Drug Administration regulates test kits that are sold to labs to detect about a dozen genetic diseases. But the vast majority of DNA tests are "home brews," in industry parlance: tests assembled, sold and analyzed in-house by various labs.

It is up to each lab to decide whether a test is sufficiently accurate and clinically valid, Javitt said. There is no independent review, which makes it difficult for consumers to know whether a test is meaningful. Assessing a lab's proficiency is also a black box for consumers, Javitt said.

Even if a test is credible and the lab proficient, experts question the benefit of testing for conditions about which patients can do very little, such as Alzheimer's disease.

Genetic counselor Elissa R. Levin, clinical director of DNA Direct, said her firm has taken steps to address such concerns. Officials at the company, launched last year by a California entrepreneur, declined to disclose how many clients have been tested or other details it deems proprietary.

The firm, whose motto is "your genes in context," offers testing for about a dozen conditions or diseases, with prices ranging from $199 for hereditary hemochromatosis, a surfeit of iron in the blood that can cause liver disorders and cancer, to $3,300 for tests for the BRCA genes associated with breast and ovarian cancer. DNA Direct does not offer Alzheimer's testing.

All tests ordered online by consumers must be approved by a medical geneticist, said Levin. Phone counseling before and after testing is required for infertility and breast cancer testing; others can reach a counselor by phone if they choose.

Before receiving a test kit, users complete an online risk quiz, which Levin said helps ensure a consumer is receiving the proper test. DNA samples are analyzed by large commercial labs -- LabCorp or Myriad Genetics -- and users receive their results online within a month, along with recommendations about follow-up and a letter to give their physician and family members.

"The traditional mode of genetic services is not for everyone," said Levin, who previously worked as a genetic counselor at the University of California, San Francisco (UCSF). DNA Direct, she said, fills an unmet need for services and allows people who don't live in major metropolitan areas to be tested quickly and privately.

Privacy was the paramount concern of Carol Jordan, 51, a Georgia bookkeeper. Jordan said she already knew she had hemochromatosis, but was not sure whether it was hereditary. If so, she didn't want it on her medical record, because she'd already been turned down for additional life insurance.

A DNA Direct test revealed she had the genes, which Jordan described as "both a shock and a relief," because it explained the severity of her symptoms at an early age, which included high blood pressure caused by elevated iron levels. The results mean her 25-year-old daughter may well be at increased risk and will need to be monitored closely.

Jordan is among the one-third of DNA Direct customers found to carry a genetic mutation, according to Levin. That number is substantially higher than the 5 to 10 percent seen in genetics clinics such as UCSF's, Levin said. So far, she said, there have been no problems with patients falling apart when they get their results.

The DNA Direct experience "is not significantly different than going to a genetics center," Levin said.

Jill Fonda disagrees. A veteran genetic counselor in Montgomery County who works in a high-risk obstetrics practice, Fonda previously counseled patients at Children's Hospital.

Fonda said she is concerned about the way DNA Direct describes the risk of cystic fibrosis (CF), a lung disorder, and promotes home testing for it.

The company's Web site says that as many as one in 25 Americans is a carrier of the CF gene. Adults with infertility or chronic sinus infections, as well as children with unexplained growth or digestive problems, might be candidates for testing, it says.

"You see 'one in 25,' and that sounds really high," said Fonda, "but what I don't see here is that each parent must pass on a defective gene for a child to have CF." (According to the National Heart, Lung, and Blood Institute, one in 3,000 babies born in the United States has CF and 30,000 Americans are estimated to have the disorder.)

That information appears midway through a long section on the DNA Direct Web site and is easily missed, Fonda said. Much of the information on the site, she added, is too technical and hard to understand.

Levin disagreed. "I think the information we provide is absolutely adequate and accurate," she said. "Everybody uses the Web differently. I'm very comfortable with the fact that all the information is there and that people are adequately understanding" it.

Fonda is dubious. "People don't read stuff, and most of them won't read that far," she said. "I don't think it's the right context for this."

Resources

Sources of consumer information on genetic testing include:

· The National Human Genome Research Institute: http://genome.gov/ . Call 301-402-0911.

· The National Society of Genetic Counselors, whose Web site contains a locator for counselors: http://www.nsgc.org . Call 312-321-6834 or e-mail questions to fyi@nsgc.org .

· The Genetic Alliance, a nonprofit Washington-based coalition: http://www.geneticalliance.org/ . Call 202-966-5557 or e-mail info@geneticalliance.org .

Join Gail H. Javitt of the Berman Bioethics Institute of Johns Hopkins University for a Live Online chat about genetic testing, today at 2 p.m. at www.washingtonpost.com.

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