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Submitted by George Elliott on Sat, 03/16/2013 - 6:38am.
So, you want to know more about the genes that make you what you are? Or, maybe you’re interested in knowing what your potential disease vulnerability is by getting your genome sequenced? Well, you may want to think twice, or maybe three times before taking the dive. Costing from several hundred to thousands of dollars, they’re now sold over the Internet, and there are plans to sell them in drugstores. Some tests claim to provide personal nutrition advice based on your genetic profile. Usually all you have to do is rub a swab inside your cheek and mail it to the company, which will scan your DNA, looking for mutations and variations that suggest increased risk, and then send you the results.
Home tests have not been reviewed by the FDA or any other agency, unlike most physician-ordered genetic tests or other kinds of at-home medical tests. And, there’s no data to indicate the take home tests are even accurate to begin with. In addition, the FDA has advised some home test makers to submit factual test based results, given that some companies are claiming to be able to devise health care plans based on an individual’s personal genetic results, which can start to be borderline legal.
One problem is the overblown claims made in much of the marketing material. In most cases, there’s no research showing that the results of the tests can help people prevent disease or lead to better treatment or longer lives. Government testing in 2010 showed that for every genetic test they evaluated, the results varied by which company was supplying the swabs, and each companies lab. In the end, the government indicated there’s no evidence that any particular test is accurate or preferred, or even if the results are accurate, that and recommendations made by the companies are true, accurate, or useful.
Moreover, no one (or even two) genes necessarily stand alone in the functioning of the human body, let alone in disease issues. It is the passage of time, the physical environment, the social environment, and a host of individual experiences and interactions that are likely to be as involved as any single gene.
Even if you have a gene or two that makes you susceptible to sugar diabetes, for example, by controlling your weight and exercising, those genes may never be activated. Alternately, you might not have a genetic susceptibility, but by having a dangerous lifestyle, you could still develop the disease.
dditionally, and this is true of more complex diseases, you might not ever develop a sickness because of other issues that develop through the course of a lifetime. This could mean anything from at what age a disease might begin; is it 50 for you, and 60 for someone else, and not until 80 for most people? And let’s say a disease normally wouldn’t show up until 80 years of age. What if you found out about a genetic predisposition for such a disease, but you only live until 77 anyway? You could have had a lifetime of worry and concern for nothing.
Although the science of genetic testing is progressing rapidly, and holds vast potential on an individual basis, it’s too early in the game to rely on, and especially act on specific genetic tests you may take. This is especially true for any at home tests.
In some circumstances, it’s reasonable to consider genetic testing, when it’s done in conjunction with a health-care professional knowledgeable in genetic medicine and by a specialized lab. There are a few cases in which genetic testing in a specialized lab could be warranted, and I’ve spelled those out below:
Breast cancer: About 2 percent of women have a family history strong enough to warrant testing. If the results are positive, you should have frequent mammograms and other testing (such as MRIs), and may even decide to have prophylactic surgery.
Colon cancer: If you have a strong family history of this cancer, you need frequent colonoscopies to find and remove polyps. Genetic testing can be helpful in determining if you need even more frequent colonoscopies.
Dementia: Three rare gene mutations are known to almost always produce early onset of Alzheimer’s disease, but account for less than 1 percent of all cases. Another gene is linked to increased risk for the more common late-onset Alzheimer’s, though most people who have this gene do not develop the disease. In the end, this type of test might not prove to be beneficial, since even if you test positive for one or more of the genes, the disease accounts for only a slim percentage of cases, and in any case, there’s nothing that can be done about the potential of getting Alzheimer’s, other than following a healthy life style and remaining mentally active as well.
Pregnancy: If you are planning a pregnancy and certain disorders run in your family and/or you belong to an ethnic or racial group that tends to have certain disorders, you might be advised to chat with your doctor about the pros and cons of testing.
Ovarian Cancer: Talk with your doctor about the potential here, since early detection is in its infancy. There could be some genetic predispositions to this disease in certain ethnic groups as well.
By: George Elliott