The vast amount of scientific advancements that have been made within the field of genomics have allowed for the field of precision medicine to transition from a previously hopeful fantasy to an impactful reality.
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While this area of science has experienced a considerable amount of progress, there remains an urgent need for this substantial amount of data to be universally translated into clinical medical practice.
What is precision medicine?
Precision medicine has been defined as a novel approach for disease treatment and prevention that considers the genetic information, environment and lifestyle of each patient to ultimately establish specific strategies based on these factors.
To this end, precision medicine aims to create the most effective treatment plan for each individual patient in the hope of eliminating unnecessary diagnostic testing and therapies.
As compared to personalized medicine, which incorporates both the genetic make-up of an individual with their social and religious interests, precision medicine instead relies more heavily on data and analytics to create the ultimate patient-centered course of treatment.
Early breakthroughs
Although much of the work that has advanced the field of precision medicine can be attributed to the Human Genome Project that was completed in 2003, several early medical discoveries supported the use of therapies that were targeted towards individual patient characteristics.
In 1901, for example, Dr. Karl Landsteiner at the University of Vienna identified the ABO blood group system to further the understanding as to why certain blood transfusions were successful, while others were deadly.
Some other extraordinary discoveries made by Phoebus Levene, Erwin Chargaff, James D. Watson, Francis H. C. Crick, and Frederick Sanger elucidated both the structure and function of both RNA and DNA molecules.
The revolutionary breakthroughs made by these scientists allowed researchers, for the first time in history, to connect diseases and human health to a wide range of individual genetic and environmental factors.
Introducing personal medicine
The aforementioned scientific discoveries helped researchers to gain a better understanding of what specific molecules within the human body determine a patient’s individuality and, more importantly, their susceptibility to certain diseases.
As research in this area progressed, several pharmaceutical companies began to take a closer look into the molecular and genetic makeups of patients in an effort to design specific and targeted pharmacotherapies, thus introducing the world to the potential of personalized medicine. This work was also globally supported by health care providers, as the promise of individualized pharmacotherapy was to optimize the benefit for the patient while simultaneously reducing the potential of causing them harm.
Recent advancements
In 2015, then-President Barack Obama announced the United States’ government-funded precision medicine initiative that is more commonly known as “All of US.”
Under this project, over 1 million enrolled individuals will share their personal data that has been acquired from electronic medical records, DNA sequencing, personal reported information and other digital health technologies, such as RNA, protein and metabolite assays.
Taken together, the in-depth analysis of these data hopes to increase the understanding of the origin and ultimate pathogenesis of a wide range of diseases.
Furthermore, the United States Precision Medicine Initiative is aimed towards enhancing current diagnostic and treatment technologies to create more sophisticated and precise screening, detection and clinical management methods.
Future directions
The applications of precision medicine can currently be found at any point during an individual’s lifespan, ranging from before conception to much later in an individual’s life.
Despite the vast number of advancements that have been made within the field of precision medicine, there remains an unfortunate lack of translation of this data into clinical care and health policy.
Several ongoing initiatives aim to overcome these hurdles. For example, the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium, which has a total of $18.9 million in grants to offer researchers, aims to not only support the further discovery and interpretation of genomic variants but also ensure that such discoveries are integrated into clinical medical practice.
Similarly, the U.S. Implementing GeNomics In practice (IGNITE) projects, which have been granted approximately $30 million USD, will also improve the development, investigation and dissemination of genomic medicine.
To this end, one of the primary goals of the IGNITE projects includes the integration of genomic data into the electronic health records of patients to ultimately allow this vital information to create specific diagnostic and treatment plans for all patients.
Further Reading