How Precision Medicine and Genetic Profiling Will Impact Your Health
The term “personalized medicine”—the use of genetic profiles to help make medical decisions—has evolved into “precision medicine,” and the implications will change the way conditions and diseases are diagnosed, treated, and perhaps prevented.
Ronald Crystal, MD, Chairman of the Department of Genetic Medicine at Weill Cornell Medical College, explains, “Precision medicine is an approach to prognosis and treatment that is specific to the patient. We know that patients are different, and doctors use broad labels for diseases that affect them. In fact, manifestations of those diseases have sub-categories, and they may be different for each individual. That’s very important in making a diagnosis, establishing a prognosis, and designing specific therapy.”
Individual genome
A person’s genome is composed of 3.2 billion sets of genetic letters and 25,000 human protein-coding genes. If one of those letters is incorrect, it could result in a serious disease. For ex-ample, inheriting a single variant in the genetic code might eventually manifest itself as cystic fibrosis, a life-threatening disease of the lungs and digestive system that affects 30,000 children and adults in the U.S.
WHAT YOU SHOULD KNOW
About precision medicine:
➤ A person’s genetic makeup, combined with diet and exercise choices, may determine whether a person gets a disease or the severity of the disease.
➤ It uses genetic information combined with other data to diagnose and treat disease.
➤ It may be used to predict who is going to get a disease before it is observed in a clinical setting.
➤ It may be used to determine the choice and dosage of a medication.
➤ It is particularly useful in the treatment of cancer, but it has expanded to many other health areas.
Genetics just part of the picture
Precision medicine is not limited to genetic profiling. It also uses the data gathered from x-rays, CT scans, magnetic resonance imaging, echocardiography, PET scans, and other strategies.
The study of how genetic variations affect responses to medications is called phar-macogenomics. “The best example of precision medicine,” says Dr. Crystal, “has been in the area of cancer. We know that breast, lung, or colon cancer may look similar under a microscope, but at the genetic level, they can be very different. That is critical, because drugs being developed for cancer are targeted—precisioned. They focus on genetic variations that drive the cancer. A drug that may help one patient may not help a second, and in a third person, the drug may cause adverse effects.”
Precision medicine also involves metabolomics, which looks at body fluids such as plasma, se-rum, and cerebral spinal fluid to find metabolic markers for specific diseases and to track their activity.
“Another strategy is called proteomics,” adds Dr. Crystal. “Instead of looking at small molecules, we are looking at proteins to identify disease-specific biomarkers.”
The environmental factor
All of our diseases have a genetic basis to some degree, according to Dr. Crystal. Type 2 diabetes involves 60 identified genes, each of which contributes a small amount to an increased risk of the disease. A person may have one or more variants in genes, but that doesn’t necessarily mean he or she will get diabetes. The reason may lie in the person’s environment, which may include their diet and exercise habits, as well as where they live and work, and the quality of the air they breathe.
Chronic obstructive pulmonary disease (emphysema and bronchitis) is caused by smoking cigarettes. Some people smoke and develop COPD at a relatively early age, while others never develop it. Why? Because multiple genes are involved, and how they interact with varying environmental factors is different for each person.
What you can do
“Genetics is far ahead of therapy,” explains Dr. Crystal. “Genetics can be used to predict who is going to get a disease (sickle cell anemia, ovarian cancer, and breast cancer, in certain cases) before they have the clinical manifestations of the disease.”
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