art by Camille Sturdivant

The Precision Medicine Initiative: Hitting the Target

by Ashley Frye

Lucy has a brain tumor. Her team of doctors took tissue samples and began to study them under microscopes to try and determine what treatment plan would work best. Unfortunately, the physicians misjudged her tumor as less aggressive than it was, and Lucy died two months later.

This hypothetical situation is the reality for almost 14,000 Americans annually. Doctors did not previously had a way of discovering which types of tumors will end up being fatal. However, researchers have recently begun to look at the genetic composition of brain tumors, and have concluded that they can be grouped into three categories based on genetic makeup. By understanding what genetic category a tumor falls in, doctors could more accurately predict the outcome of a tumor and the appropriate medical response. The analysis of genes and its application to healthcare is becoming a major field of research, and is known as precision medicine.

Precision medicine can be defined as “an approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle.” The terms precision medicine and personalized medicine have become essentially interchangeable, but it must be noted that they do not indicate treatment based solely on individuals. The aim of this new research is to categorize people into subpopulations of patients with similar, but not identical, genetic makeup and experiences. Through using the research done on subpopulations with similar genes, doctors would be able to prescribe a precise drug or dosage that would work best for specific patients.

            In his 2015 State of the Union Address, President Obama discussed the allocation of $215 million of the federal budget to go towards the research and development of precision medicine. This money will be largely allocated to the National Institute of Health, as well as the National Cancer Institute, as the current major draw for precision medicine is to help speed up the diagnosis and treatment of various cancers. Considering the field is so new and underdeveloped, there have only been a few success stories. However, with the Precision Medicine Initiative (PMI) Cohort Program, the Obama administration hopes to expand the impact of personalized care.

            The PMI Cohort Program laid out their research and data collection procedures in September 2015, thus the enrollment of participants should be seen within the next year. PMI Cohort Program plans to recruit one million volunteers to share their health records and bio-specimens. This will allow for the compilation of a database of genetic makeup, which will then serve as a reference for doctors to utilize. The hope is that these individuals will provide a statistical sample representative of a variety of different lifestyles and genetic compositions. Once this system is in place, doctors will be able to sequence their patients’ genomes and choose a treatment plan that is most likely to be effective based on treatments that worked most efficiently on similar genomes. Additionally, the PMI Cohort Program plans to track health related measures such as sleep patterns, metabolism, cardiovascular function and physical activity to observe how these variables affect overall health and disease. 

The outlook for the PMI Cohort Program and personalized care as a whole is predicted to have an extremely beneficial effect on American healthcare. Precision medicine has had small-scale success in the past, namely with Dr. Ross Cagan, a researcher at Mount Sinai Hospital. Cagan, a cancer treatment researcher, has been sequencing the mutations in his patients and then repeating these mistakes in fruit flies. He breeds hundreds of mutated fruit flies, all of which develop tumors identical to the patients, and then tests a variety of drugs on them. Through his testing, he can discover which method of treatment and the specific dosages that will work best, and applies this knowledge to his patients. While this is an incredible and creative medical approach, it is not feasible to breed and test fruit flies for every cancer patient across the country. Once the PMI testing is completed and a database is compiled, doctors could theoretically be able to look up the same information without the time consuming process of experimenting with flies for every individual.

The possibilities of precision medicine and personalized care could revolutionize the health care industry. The field of pharmacogenetics would benefit tremendously, as DNA sequences could be utilized to decide which drugs would best interact with patients. Furthermore, the PMI Cohort Program could identify individuals who are carriers for genetic diseases and use information gathered on mutations to study gene-gene interactions and why some mutational effects are cancelled out. Treatment will come much faster if physicians can simply look up what drugs interact best with their patients’ genes.

When dealing with the physical and mental well-being of individuals, it can be tempting to default to the single treatment with the highest success rate, as research provides information regarding what treatments should work for most individuals. However, the truth is that the variability in the human genome can cause some people to react poorly to treatment that was miraculous for others. Nonetheless, with personalized medicine, there is the possibility to take a certain amount of guesswork out of the equation. Precision medicine will allow for easier diagnosis and treatment, and would ideally greatly reduce the time required to develop new treatments. A new era of health care is emerging, and we all have the privilege to see it unfold.