May 10, 2006 1:48 PM PDT
Knowledge is power, but can you handle it?
Gene testing--medical analysis to detect alterations in a person's DNA or chromosomes--has been around for a while. It allows people to detect everything from infertility causes to cancer risks.
Now the Internet is allowing consumers direct access to genetic testing--if they want it. Nearly a dozen direct-to-consumer gene testing companies are giving people the ability to send a blood sample or a swab of saliva to a lab to learn about their genetic predisposition for diseases like ovarian cancer.
"Knowledge is power," said Ryan Phelan, founder and CEO of DNAdirect, an Internet-based gene-testing and counseling service, which launched in March 2005. "Genetics is the next tool out there for consumers."
DNAdirect, a privately held company in San Francisco, sells tests for diseases that Phelan said could have therapeutic possibilities, like a predictive genetic test to determine the likelihood of developing breast cancer.
Genetic testing has mushroomed in the last decade. There are now genetic tests for more than 900 diseases, according to the Genetics and Public Policy Center at Johns Hopkins University, and several hundred more are coming.
But critics say the medical profession hasn't kept pace with science. Most practicing physicians don't know much about genetic testing, and experts on the subject are hard to find.
One of the reasons Phelan began DNAdirect was the shortage of genetic counselors with the background and expertise to walk people through a gene test and what it means, she said. There are only about 1,500 genetic counselors across the country, largely limiting access to people in urban areas, she said. By offering virtual access to qualified counselors through DNAdirect by Web and telephone, Phelan believes it can open doors to many more people.
"Many people don't have adequate access to genetic testing information or professionals," said Judith Benkendorf, project manager at the American College of Medical Genetics, in Bethesda, Md. "Delivering alternative access to those services is certainly important."
As many experts see it, genetic testing is a process that first involves a pre-test screening to determine an appropriate test and its relevancy to the patient. For example, the patient might have a family history of ovarian cancer and want to get tested for the gene. A predictive genetic test might tell her she has an 85 percent chance of developing ovarian cancer by age 45.
Next there's the actual test in the lab, followed by interpretation of the results. How and by whom that information is communicated to the patient is also part of the process, experts say. Ideally, a board-certified genetic counselor delivers the information.
However, no one regulatory body oversees the entire process. A federal law called the Clinical Lab Improvements Act, or CLIA, regulates the labs but doesn't require special expertise for ensuring the quality of genetics tests, which carry a high degree of complexity.
Gail Javitt, law and policy director for the Genetics and Public Policy Center at Johns Hopkins University, doesn't point specifically to DNAdirect, but said the whole enterprise of gene testing lacks uniformity when it comes to establishing basis for administering a specific test and then delivering counseling for the results. Online operations carry the same risks.
"Our fundamental concern is about the quality of the underlying genetic tests because there is generally little oversight over the whole enterprise, and that makes it challenging for consumers to separate the wheat from the chaff," Javitt said.
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