Gene testing--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 hasin 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 theto 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.
No regulatory body ensures that genetic tests do what they purport to do, unlike oversight of new drugs, she added. While Javitt said in the case of some genetic tests, direct-to-consumer services could be empowering and helpful to the consumer, in the current environment there is cause for concern. "Pretty much anyone today can operate over the Internet and purport to test for anything with very little barriers," she said.
DNAdirect tries to answer these concerns by offering a "gold standard" online, the company said. It asks prospective customers of its tests--which can cost anywhere between $585 and $3,300-?to fill out a medical history questionnaire before buying one. It then develops detailed online reports for customers that combine lab results with personal history so that the person can understand his or her results, "in context."
DNAdirect offers eight different gene tests for things such as breast and ovarian cancer. It employs certified genetic counselors to take calls from customers after more information concerning their tests. It also draws on the expertise of "domain experts" in areas like ovarian and breast cancer to inform its tests and counsel customers.
But what if personal genetic information will fall into the wrong hands and be used against them? Some worry an insurance company could deny coverage if it knows a patient is genetically prone to developing a certain disease.
For now, it's unclear whether and how the insurance industry and the military are using genetic information. Congress has been working on related legislation for several years without success.
Rep. Judy Biggert, an Illinois Republican, introduced the Genetic Nondiscrimination Act, or HR 1227, last year. The bill would allow consumers to pursue genetic testing but would prohibit insurance companies from denying coverage or charging higher premiums for consumers known to have a predisposition for a genetic disorder.
It would also prohibit employers from requiring applicants to submit results of genetic testing. The bill now has 182 co-sponsors, but it may stall before it becomes law, according to executives from the National Institute of Health. A similar bill, S 306, passed the Senate by a vote of 98 to 0.
On Apr. 29th, Dr. Francis Collins, director of the NIH's National Human Genome Research Institute, wrote in a policy alert that people's fear about genetic discrimination is threatening the progress of medical research, and legislation to govern genetic testing isn't going forward because businesses that are worried about "nuisance lawsuits" are lobbying against it.
In some cases, genomics is already ushering in personalized medicine, he said. Oncologists can take genetic information from the tumor of a woman with breast cancer and use that to determine whether she needs ancillary chemotherapy after the tumor has been removed, Collins said.
All that said, when it comes to fatal diseases, experts say some people would rather stay in the dark.
"Many people just don't want to know," said Benkendorf, "so that's why they aren't taking tests."