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June 20, 2018

Careful Thought Before Genetic Testing

Genetic testing is being promoted to average risk individuals, is it right for you?

Consider the Benefit, Risks of Knowing the Results

Genetic testing is being promoted to average risk individuals, is it right for you?

When I was in college more than 40 years ago, we were able to identify our chromosomes and take pictures of them in my genetics class. This was cutting-edge technology. We could count the chromosomes and tell men from women by the presence of either the X or Y chromosome. As you can imagine, the technology has advanced remarkably since then. Now specific proteins and markers can be identified on chromosomes that are unique to individuals and are more accurate than a fingerprint. This technology can convict criminals and in certain instances can identify markers that are linked to disease.

Companies have taken advantage of this technology and have been promoting genetic testing to average risk individuals to reap a profit. These companies ( and 23 and Me are two popular ones) have promoted their testing as a way to identify ancestry and to calculate risk for certain diseases. The testing is relatively simple because it can be done on cells collected from a specimen of saliva that is spit into a container and costs around $75 to $150. However, there are consequences to doing the testing and careful thought should be given prior to doing testing.

Chromosomes determine certain physical traits about us. Our gender, height, hair color and other traits are determined by the chromosomes we receive at conception. There are normally 23 pairs of chromosomes with half of each pair coming from each parent. There can be multiple genes on each chromosome. Currently the chromosome makeup of an individual cannot be changed.

In some specific instances the testing for specific genes can be beneficial and can lead to people taking measures to avoid or treat illness. Targeted testing may be recommended by your healthcare provider. One example of this that has been in the news recently is screening for the BRCA gene in women who have a family history of breast or ovarian cancer. If the gene is present, these patients may decide to have mastectomies done as a preventive measure to avoid developing breast cancer.

At this time the science and technology have not advanced to the point that disease can be predicted definitively for most problems from gene testing. Certain genes may increase risk but there are other factors in addition to the genetics that affect disease expression. Environmental factors and lifestyle have a large impact on disease expression. For the average person a genetic test is not needed to tell them that their health and risk for disease will improve if they avoid tobacco, limit alcohol use, lead an active lifestyle, maintain a healthy weight, and control risk factors like blood pressure and cholesterol.

There are some issues that need to be considered when doing genetic testing. First of all, the individual being tested should ask them self what benefit will come of this testing. In other words, will they change anything based on the results? If it is simply being done for entertainment and curiosity purposes, there may be some satisfaction in just knowing what part of the world their ancestors came from. However, if the testing is being used as a way to identify risk factors for disease, some people may suffer more from the anxiety of knowing that they have risk even though the disease may never occur.

Also, there can be other unexpected consequences of having the testing done. At this time the companies state that the results will not be shared with anybody else. However, recently an individual was convicted of a crime when the results became available to authorities. In addition, if insurance companies or employers were able to access this information this could affect a person's ability to purchase insurance or be employed.

Genetic testing is being promoted and seems to be a popular thing to do. However, it has its consequences. Consider asking your health care provider if genetic testing would benefit you and stay healthy my friends.

Michael Shattuck, MD, is an emergency department physician at ThedaCare Medical Center-Berlin.