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Things To Consider Prior To Genetic Testing



Oscar-winning actress Angelina Jolie recently received a positive test result for the BRCA1 gene mutation. This meant that she had a chance of developing breast cancer that was almost 90 percent. As a result of this test, she decided to have a double mastectomy performed. Having such a high profile celebrity involved in a situation like this helped to make genetic testing front-page news all around the world.

Advances in Genetic Research

Only one decade ago, the human genome was finally unraveled. Since then, research has increased dramatically in the field of genetics. A decade ago, it was only possible for a person to be tested for genetic links to roughly 900 diseases. That number has now increased to more than 2,500. The price has also become more affordable, allowing almost anyone to have the test performed. Previously, the procedure had to be performed in a medical environment. However, a person can now perform the DNA test in the comfort of their own home for a price as low as $100.

Genetic testing has the ability to provide a person with information that can be used to prevent, treat, and diagnose various diseases. However, the question still remains as to which tests are worth getting. Before a person makes their decision, there are some important factors for each type of test that must be considered.

At-Home Kits

An at-home kit can allow a person to find out if they are at risk of developing celiac disease, psoriasis, osteoarthritis, and a host of other diseases. The genetics company 23andMe has at-home kits available online for $99, allowing anyone to unlock all of the secrets that their DNA contains. The test is simple to perform. A person mails his or her saliva sample to the company. The person will receive the test results six to eight weeks later.

However, it should be noted that direct-to-consumer tests such as these will only examine common markers. They do not read all of the possible variations that a gene could have. Also, the average person will find some of the data difficult to interpret. A trained genetic counselor or doctor will need to be consulted to explain certain parts of the data. The consumer should also be aware that these tests are usually not covered by health insurance, they are not FDA approved or regulated in any way, and are not standardized adequately.

Doctor-Administered Tests

These tests can screen a person based on factors such as ethnicity and family history. These tests usually cost between $300 and $3,500. However, they are usually covered by health insurance. Before getting the test performed, it would be wise for a person to ask their insurer first. Some insurers require a visit to a genetic counselor, a detailed family history, or a letter from the patient’s doctor.

Other Important Factors

Some other factors to consider before a person gets tested are possible insurance discrimination and emotional repercussions. The federal Genetic Information Nondiscrimination Act that was passed in 2008 prohibits health insurers and employers from using a person’s genetic test results against them. However, there is no protection regarding disability, life, and long-term care coverage.

A person must also be certain that they are completely prepared to hear the test results they receive, as they could be potentially devastating to the person and their family. It is usually better to know in advance if a person is at risk for a disease. This allows steps to be taken to prevent it.