Nowadays, it is possible to obtain access to one’s genome data easily and relatively cheap. There are several companies offering this information and together with interesting information regarding ancestry they provide medically relevant data.
The first reason to be careful with is the meaning of the data by itself. The majority of diseases are multifactorial in origin, meaning that not one, but many genes could be involved in their genesis. In addition, the environment is also important, meaning that if even if the “defective genes” are present, a healthy diet and physical fitness can ameliorate the effects. An adequate interpretation of the data has to be performed by a physician and if further questions arise this should be followed by a second medical opinion of a physician with training in genetic counseling.
A second reason to be cautious is the abundance of information in the internet about certain conditions and the recommendations provided by well intentioned, non-medically trained people. We always have to keep in mind that we are unique and that the combinations in our genetic material probably do not repeat in another person. Therefore, the recommendations have to personalized. Again, as in the previous paragraph, your physician has to be in charge of starting a necessary treatment or reassuring the patient if necessary.
Finally, what would happen if an insurance company obtains someone’s personal information? Would they use to raise premiums if they know that you are at risk for a certain condition? Would a person become uninsurable? Privacy of course has to be a key factor here. Even if you disclose information to your personal doctor and he or he makes it part of the medical record, the insurance company might have access to it.
Genetic testing, now widely available and cheap can provide medically relevant information. However, there are risks associated with obtaining it. The primary physician should be in charge of guiding the interpretation and possible therapies associated with it and also has to be instrumental helping you keep the privacy of the information. Also, we cannot underestimate the importance of a second medical opinion.
Marco A. Ramos MD
