Gene testing -- medical analysis to detect abnormalities in a person's DNA or chromosomes -- has been around for a while. It can predict everything from infertility to cancer risk, with varying results.
Now the Internet is allowing consumers direct access to genetic testing. Nearly a dozen companies allow people to send a blood sample or 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 chief executive of DNAdirect, an Internet-based gene testing and counselling service launched in March 2005. "Genetics is the next tool out there for consumers."
DNAdirect, a privately held company in San Francisco, sells predictive tests for diseases like breast cancer.
Genetic testing has mushroomed in the last decade. More than 900 diseases are covered, according to the Genetics and Public Policy Centre at Johns Hopkins University, and hundreds more soon will be.
Critics say the medical profession hasn't kept pace with science. Most practising 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 counsellors 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 counsellors across the US, mostly in urban areas, she said.
"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, Maryland. "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 relevance to the patient. The patient might have a family history of ovarian cancer and want to get tested for the gene. A predictive test might tell her she has an 85 percent chance of developing the disease by age 45.
Next there's the actual lab test and interpretation of its results. Ideally a certified genetic counsellor delivers the information.
No single 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 are complex.
Gail Javitt, law and policy director for the Genetics and Public Policy Centre at Johns Hopkins University, doesn't point specifically to DNAdirect, but said the whole enterprise of gene testing lacks uniformity when it comes to deciding which test to use and then delivering counselling 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 genetic tests do what they purport to, unlike oversight of new drugs, she added. Direct-to-consumer tests could be empowering and helpful to the consumer, she said, but 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."
DNAdirect says it tries to address these concerns by offering a "gold standard" online. 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. 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 like breast and ovarian cancer. It employs certified genetic counsellors to take calls from customers about their results, and consults "domain experts" in areas like ovarian and breast cancer to inform its tests and counsel customers.
But what if personal genetic information falls into the wrong hands? 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.
Talkback
My 18-year-old son David Asbell, was just denied enlistment into the US Air Force. Without even getting a military physical, he was denied twice due to his family medical DNA records that show he has genetic hemochromotosis. After failing the first time we went to Birmingham Alabama and met with a highly regarded specialist in the blood disorder field, Doctor James C. Barton of Southern Hematology & Oncology. Dr. Barton evaluated my son’s condition and composed a letter to the Air Force explaining his condition in detail. He explained that his HFE genotype and iron values represent no excessive risk. He also explained the number of suspected cases that are currently in the military unknowing and having the same condition as my son.
We were fortunate to find that my son is a C282Y homozygote at the early age of 16. He realizes that regular monitoring is a must, and possibly phlebotomy or a new oral drug Exjade may be necessary to live a normal healthy lifestyle. He is currently in good health, and at present his iron levels are so low that he has never had the need of any treatment or a phlebotomy. Because of the early DNA testing that revealed his potential problem, he should never have to give blood more than 3 or 4 times each year at some point in the future, if at all.
I am outraged that medical science says or his DNA says that he has hemochromatosis, when the disease is a result of Iron overload, which he hopefully will never experience due to his advance knowledge of the potential problem. There needs to be another term for the disease or his condition so as to indicate to other unknowing medical or government agencies that it is entirely possible to avoid complications or never actually experience the end result of the disease.
Due to the blessing of our advanced awareness and now the curse of the medical terminology, my son is a far lesser liability to the military than all the unknowing troops that are subject to have problems later in life due to iron overload.
The military medical manuals concerning the disease is outdated, and does not take into consideration at all discovery of the disease in advance through genetic DNA testing. Early discovery (as in our case), of the disease, all but elimminates the risk.