Genetic testing can be a complicated process. There are many different types of genetic tests, including testing to confirm a clinical diagnosis, to determine increased health risks, and general health knowledge. Today, some genetic testing companies offer general health genetic screening for conditions such as cancer, heart disease and other health conditions. If you are suspected of having a genetic condition, you can pursue a genetic test to confirm the diagnosis typically through your healthcare provider. There are also genetic tests that don’t require a healthcare provider’s signature, such as ancestry or minimal carrier genetic testing.
A genetic test is a medical test that analyzes the DNA in your body by using saliva, blood, amniotic fluid, or tissue. By evaluating the coding of your DNA, a genetic test can determine if a mutation has occurred which may cause a segment of DNA to not function properly. These segments of DNA are called genes. If a gene does not function properly, it could mean that you have a confirmation of your diagnosis, are at increased risk for disease, or may pass on a genetic condition to a future child. Your physician or genetic counselor can determine which test is right for you.
So, what exactly are the risks of genetic testing?
Physical Risks: If you are having your blood drawn or spitting saliva into a tube, there are essentially no physical risks associated with these samples for genetic testing. To perform genetic testing on a pregnancy requires a diagnostic procedure called an amniocentesis or chorionic villus sampling (CVS), which is associated with a risk of miscarriage or preterm labor. The risk of miscarriage for amniocentesis is approximately 1/700 – 1/900 and for CVS procedure is approximately 1/200 according to more recent studies.
Emotional Risks: It can be very difficult for a person to learn that they have an increased risk or will eventually develop a disease. For example, someone who is positive for a BRCA1 gene mutation has a high risk of developing breast or ovarian cancer during their lifetime. This can be emotionally overwhelming and unsettling. Another example is a person with a strong family history of a devastating condition like Huntington’s disease, in which that person has a 50% chance of also having the gene mutation and one day developing the disease. It is important in these kinds of circumstances to make sure a person is emotionally stable and prepared to receive this kind of news. In addition, there are genetic screens that can be done during pregnancy which may give someone information about their pregnancy that is difficult to hear. On the other hand, someone may be very hopeful to receive an explanation for their health condition or the health of their loved one and genetic testing does not always provide an answer. These situations can be equally frustrating and emotional.
Once a genetic test is performed and results are given to the patient, your DNA does not change, and your result will not change. If you are considering genetic testing but are concerned about these emotional risks, it may be important to meet with a therapist prior to deciding if you should pursue genetic testing.
Social Risks: A genetic test result can sometimes change your perspective of yourself and your life. This can affect your relationship with family members and friends. For example, if you learn that you will develop a debilitating disease later in your life, that can affect the decisions you make regarding your relationships, career, education, etc. In addition, sometimes you can find out genetic information about yourself that also is significant for your family members, and they may not want to know that information. Careful consideration of these different social risks is important prior to pursuing genetic testing.
Financial Risks: While genetic testing has become much more affordable, there are still costs associated with genetic testing. Health insurance companies are becoming better at covering the costs of recommended genetic tests and sometimes individuals will not have to pay at all. However, if your health insurance does not cover the cost of your genetic test, depending on the genetic testing company and the genetic test, you may have to pay a few hundred dollars or more to cover the self-pay cost of the test if you still desire to pursue genetic testing. Fortunately, many companies will check your health insurance prior to starting your genetic test to determine what your out-of-pocket costs will be.
Another risk to consider is genetic discrimination. While the Genetic Information Nondiscrimination Act (GINA) protects us from discrimination in health insurance and employment, it does not cover life insurance and long-term disability insurance. There are also additional exceptions to this law. Please take a closer look at GINA to determine if you need to make financial adjustments prior to genetic testing.
Genetic testing carries risks but can also have many benefits for yourself and your family. It is important to carefully consider the benefits and risks of genetic testing prior to pursuing genetic testing. A genetic counselor is trained to help you make the best decision regarding genetic testing for yourself and your family, including weighing risks associated with pursuing genetic testing and providing emotional support. If you are trying to make a decision about genetic testing, or think you need to have genetic testing, please contact AT-GC to meet with a genetic counselor.