What is Precision Medicine?

By Mark A. Kelley, MD |08/01/16

In his State of Union address this year, President Obama announced a federally funded program called ”Precision Medicine”. This $215M project is designed to improve disease treatment and prevention by studying the variability in genes, the environment, and lifestyle for each person. A “cohort” of one million volunteers from different parts of the nation will followed over a number of years.

This project resembles the famous Framingham Heart Study, which began almost 70 years ago. That study has provided major insights into the causes of heart disease by following patients over many decades.

In this era, we have many more tools to improve our understanding of how diseases evolve over time. We can track massive amounts of information about patients and analyze their genes. We also have new electronic communication and monitoring tools. The hope is that we can find better ways of prevention, detection and cure of diseases. Already, medical research is facing some important challenges. Here are several examples.

Inherited disease is more complicated that we thought. Medical science has achieved major breakthroughs in understanding how the human genome behaves. Genes control most of the processes in our bodies and slight changes in those genes can cause problems. Some inherited genes have been known for decades – such as sickle cell disease and cystic fibrosis. However, the system is much more complex than ever imaged. Only recently have we begun to understand how inherited genes cause disease.

Genes can control our response to prescribed drugs. Some drugs, such as those for conditions like hypertension and blood clots do not work the same for everyone. Many patients may need higher (or lower doses) and for some, the drug does not work at all. Research suggests that these variances may be due to different genes that control the way the drug interacts with our bodies. How do we know which drugs are best for each person? Should we test everyone for genes that control response to prescribed drugs?

Genes can become abnormal and trigger disease. Curing cancer is at the core of the Precision Medicine project. All cancer is from the uncontrolled growth of cells. In many cancers, genes that control cell growth no longer work normally and the result is a tumor. We do not understand how or why this happens. In some cases, genetic analysis of the patient’s tumor reveals which genes are defective and therapy can be developed to block the effects of these abnormal genes. The influence of genes on human disease is the hottest area of medical research. Precision Medicine will help us understand much more about these processes.

How are diseases related to the environment, including social factors? We know much about toxins and other environmental risks but we need to learn more. The influence of social factors on health is not well understood. Poverty, education, and life style can affect health but the details are lacking. For example, is poverty a risk factor for hypertension when you exclude all other factors except poverty itself?

Fortunately, we have the tools to improve our understanding of these issues. Studying the human gene has become very sophisticated and less expensive. With this technology, we may learn how and when genetic testing is useful in a large population. Supercomputers can analyze enormous volumes of information about patients over many years. This may reveal important clues on disease patterns and risks for individual patients.

We in the United States are a very diverse population and each of us is uniquely different. With Precision Medicine, we may better understand how to provide the best care for every individual.

For more information about Precision Medicine, go to the National Institutes of Health website or the White House webpage.

If you are interested in enrolling in the project, contact the NIH Precision Medicine participation website.

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