The concept of ‘personalized medicine’ evolved rapidly as scientists and researchers began sequencing the human genome—our genetic code—and discovered its potential in yielding new tools to help physicians better tailor treatments to individual patients and the diseases they face. For many the ultimate goal of personalized medicine would be the ability to take blood from a sick patient and rapidly determine the genetic factors involved in a given disease process as well as uncover genetic signals as to the drugs or treatment strategies to which the patient will best respond. Additionally, healthy patients could have the ability to obtain genetic testing and learn their relative risks of developing certain diseases. With that information, patients could take precautionary steps to be monitored closely by their doctors for signs of a predisposed illness, and begin fighting the disease before it begins. For example, a woman who has a mutation in her BRCA1 gene, a gene implicated in hereditary breast cancer, would learn she has an increased chance of developing the disease and could be screened more frequently and earlier. Since the earlier breast cancer is detected, the better the likelihood of being cured, close monitoring of such predisposed women could make a dramatic reduction in overall breast cancer deaths.
However, there are some roadblocks on the road to fully personalized medicine. For example, the use of such genetic information is costly, powerful, and raises numerous ethical concerns. Before personalized medicine can be fully realized, there is a need for new regulatory approaches, stronger patient privacy protection laws, and perhaps even a restructured healthcare system that encourages preventive medicine and supports access to the tests and treatments that enable physicians to provide personalized health care.
Additionally, there are personal considerations each patient will have to ask himself: Do I want to know my risks for certain diseases? How will learning my risks make me feel? What if I find out I am at risk for a serious disease for which there is no cure? How will I feel about possibility passing genetic mutations on to my children? How will knowing my genetic risks affect my life? Will genetic testing help me feel more or less empowered in my healthcare decisions? All of these are important considerations for patients who stand on the brink of accessing their personal health risks as never before. Certainly different people will have very different answers to these questions.
For many diseases, medical researchers have only recently begun to uncover some of the genes which can contribute to the development of the disease. Additionally, lifestyle and environmental factors such as cigarette smoking and diet, can play an even greater role in the development of many diseases than do genetic variations. Thus, even if every genetic component of a given disease is understood, that may only be half of the story. Researchers have found that not every person predisposed to cancer or heart disease develops these illnesses, thus genetic information can only provide part of the picture. For those dealing with the realities of personalized healthcare today, understanding not only the potential but also the limitations of personalized medicine may prove essential in the successful use of these tools.
