By Aarushi Gupta
The now-famous Human Genome Project (HGP) sequenced the human genetic code in 2003 and effectively ‘mapped’ the human genome, allowing scientists around the world to localize the codes of distinct proteins that are necessary to human life (and some that are not). The results of the HGP told scientists where specific genes were located, but the particular genetic susceptibility or immunity of certain people to genetically linked diseases like Alzheimer’s, cancer and diabetes is still not understood. In a greater effort to better elucidate the mechanism by which some people contract these diseases, President Obama has introduced the Precision Medicine Initiative, which proposes collecting health information from approximately 1 million volunteers to better understand the underlying causes of genetic and metabolic diseases and therefore develop personalized therapeutic treatments based on a patients genetic information.
A task as daunting as this does not come cheap; the President estimates that this endeavor will cost approximately $215 million; 60 percent will go towards the National Institutes of Health’s work on deciphering the nuances of the human genome, and the other 40 percent will be dispersed among the Food and Drug Administration (FDA) and the Office of the National Coordinator for Health Information Technology (ONC) to support the logistics of this operation, including patient confidentiality as well as creation of a database to promote the accessibility of the information.
‘Precision medicine’ refers to the use of patient genetic information to better understand the underlying causes of varying diseases and develop personalized therapeutic treatments in an effort of the medical community to move away from the ‘one-size-fits-all’ approach to medicine; while the symptoms and physiological manifestations of diabetes, cancer and other metabolic diseases are similar across different patients, the causes of these diseases are not fully understood by medical professionals and scientists. What is becoming more apparent is that different people react differently to varying treatment options, based on their genetic susceptibility to specific metabolic processes. The precision medicine effort seeks to increase the availability of customized care and targeted treatments. However, the only way to understand the fundamental causes of these widespread diseases is through the analysis of a large pool of affected and non-affected patients, looking at how the genetic differences manifest into varying physiological outcomes. This work will be performed by the NIH, who will collect and analyze samples from 1 million volunteers to determine the genetic bases for better treatment options.
It is important to understand that this initiative relies on making the data more available to scientists – they already know how to analyze these samples, but suffer from a lack of data. Not only will the initiative play a role in gathering information, it will also make the results available to scientists all over the country, enabling academic researchers to team up and provide molecular explanations for these afflictions. The PMI would increase funding to chemistry, biophysics and molecular biology programs in universities across the country, which would be extremely beneficial for the scientific community. As stated by Gina Kolata in the New York Times, “If the precision medicine initiative supplies genetic and clinical data in a form that is easy to use, it would speed such studies, scientists say.”
Many people, including scientists and medical professionals, believe that this initiative is not a good idea. These detractors cite that precision medicine would not affect the numbers of people affected by generic diseases. Michael Joyner, an anesthesiologist and physiologist at Mayo Clinic, does not put his faith in what he calls “moonshot medicine”, or far-reaching medical initiatives like this one. He believes that there is “no clear genetic story” behind widespread diseases like cardiovascular failure, diabetes, and cancer, and that precision medicine could lead to unintended consequences. In response to his editorial, published in the International New York Times, several researchers have refuted Joyner’s claims with the simple premise of the entire study: collecting data from a large population set will shed light on the genetic tendencies of certain diseases. A 2011 report published in the Proceedings of the National Academy of Sciences, gives an example illustrating the current differences in treatment options between breast cancer, which has become personalized, and Type 2 diabetes, which is defined by its symptoms and unpredictability.
Similar ‘biobanks’ have been explored in other countries; the United Kingdom and Japan both have databanks with amassed data that is now being used to evaluate treatments for cancer. These studies have lead to use of cancer gene testing to guide the treatment of patients with certain mutations, which would not have been known without the large data set made available to researchers. The effects of biobanks have been beneficial for both societies, and has lead to significant strides in medical advancements.
Image by Caris Life Sciences