First, a disclaimer. What you about to read is my opinion and should not be taken as gospel. With new technology and scientific findings, more genetic disorders can be identified now than was possible in the past. Deciding to do genetic testing can often be a difficult decision. The answers to our questions may help us, they may depress us, they may give us information to improve our health, or they may leave us waiting for the sky to fall. If you break genetic disorders into three categories, deciding whether to do testing is easier.
Category one is treatable genetic disorders. If there is a treatment plan which will make a positive difference in your life, then do the genetic testing. Pre-natal and post-natal genetic testing for treatable disorders is mandatory.
The next group covers non-treatable genetic disorders. It’s my personal opinion that there is no reason to do genetic testing if nothing will change regardless of the test being positive or negative. Parkinson’s falls into this category. Sure, if you have the gene for Parkinson’s, exercise and a good diet may help but exercise and good diet helps everything. So, why worry about a positive gene test that may or may not mean that you are going to develop the disease associated with the test. As with everything, exceptions exist. If you enroll in research for a particular disease, genetic typing is helpful to the researchers.
My third group is those disorders where, if positive, treatment protocols save lives. Breast cancer falls into this category. Certainly, knowing the results of gene testing in genetically inherited disorders is helpful in deciding whether to have children or not, whether to treat them with meds or surgery and help you counsel your children and siblings as to their needs for monitoring.
Remember, a positive test does not mean you are going to develop the disorder you tested for. When you are uncertain about what to do, see a geneticist.
