The U.S. Food and Drug Administration (FDA) approved the commercialization of a personal genetic testing kit assessing the risk for 10 conditions including Parkinson’s, Celiac, and Alzheimer’s diseases. The tests assess genetic risks for the conditions but don’t diagnose them, the FDA says. They will only tell the person if she or he carries a DNA variant that, according to research, is associated with a higher risk of a disease.
The FDA had previously stopped the company 23ndMe from selling these personal genetic testing kits in the U.S in 2013. But as the firm later agreed to work with the FDA, they are now allowed to market the tests assessing the risks for the following diseases or conditions:
- Alzheimer’s Disease, a chronic, degenerative neurological disorder that affects one in 100 people over age 60. The disease is ultimately fatal. Right now, Alzheimer’s disease has no known cure.
- Parkinson’s Disease, a progressive disorder of the nervous system that affects movement. Parkinson’s disease can’t be cured.
- Celiac disease, a serious genetic autoimmune disorder where the ingestion of gluten leads to damage in the small intestine. The only treatment currently for celiac disease is a strict, gluten-free diet.
- Hereditary thrombophilia, a disorder with increased risks of developing blood clots in blood vessels which can lead to strokes and heart attacks. There is no specific treatment for thrombophilia.
- Gaucher disease type 1, an inherited organ and tissue disorder leading to enlarged spleen and liver, low blood cell counts, bleeding problems and bone disease. Two treatment therapies are available for this disease.
- Hereditary hemochromatosis, a genetic disease that alters the body’s ability to regulate iron absorption. If correctly diagnosed, HH is easily and effectively treated, but if untreated, it can lead to severe organ damage.
- Early-onset primary dystonia, a hereditary movement disorder that involves involuntary muscle contractions, and other uncontrolled movements.
- Alpha-1 antitrypsin deficiency, a genetic disorder in which the body does not make enough of a protein that protects the lungs and liver from damage. The condition can lead to emphysema and cirrhosis. There is no definite cure for this disease.
- Factor XI deficiency, a rare genetic bleeding disorder caused by reduced levels and insufficient activity of a blood protein called factor XI.
- Glucose-6-phosphate dehydrogenase deficiency, a genetic condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection.
The test, available for $199, can be purchased directly online without any doctor or counselor’s advice. After mailing back the saliva sample, results can be viewed online.
The director of the FDA’s Center for Devices and Radiological Health, wrote, “It is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”
Some medical professionals are still not convinced that the links between the genes in question and the higher risks of disease are reliable enough to warrant a direct-to-consumer marketing and testing, as opposed to genetic testing with the guidance of a professional. They think that the genetic factor in some of the conditions is just a piece of the story when developing a disease.
Some of the conditions genetically tested like Alzheimer’s or Parkison’s have no cure and cannot be prevented. Furthermore, even if a genetic DNA variant predisposes someone to a particular condition, it doesn’t mean that the person will develop the disease. Conversely, a person without the gene tweak can get the illness.
Most of these conditions cannot be prevented by any lifestyle or diet changes and there is no drug that can be taken to lower the risk of getting them. So, what will the consumer do with the information? We can envision a lot of anxiety and depressions resulting from that kind of information.
The Alzheimer’s Association does not recommend routine genetic testing for the disease in the general population because it can’t “productively guide medical treatment.” A genetic test result for Alzheimer’s is “not going to provide useful information even if you’re at an increased risk,” said Keith Fargo, director of scientific programs at the Alzheimer’s Association.