Precision medicine is looking at a patient’s disease at the molecular level, and then developing treatments and therapies for that individual patient. The Epi4K Consortium is working to develop genetic and molecular findings that will translate into personalized “precision” medicine for patients in many diseases, and especially in epilepsy. In this new paradigm, every patient can be compared against data and historical information from countless other individuals with biomarkers like theirs, thus enabling their doctors to better predict how the patient will fare and to better match treatments to the individual patient.
National Institutes of Health Director Francis Collins, MD, PhD recently described the importance of precision medicine as follows: “Medicine for most of human history has been one-size-fits-all. But we’re all different, and the diseases we have lumped together under one label we’re finding out are actually at the molecular level quite distinct. Precision medicine tries to understand what’s underneath those disease layers and tries not to lump everyone together but think about individual differences.” (1)
In the field of epilepsy, recent advances in fields such as genetics, neuroimaging, stem cell biology and model systems are beginning to provide guidance as to either the choice of existing therapies or the development of new therapies. These advances, combined with the increased ease with which clinicians, scientists, patients and other stake-holders can work together collaboratively, have set the stage for a new era in epilepsy care in which far more patients will benefit from having a highly accurate diagnosis of the cause of their epilepsy and, as an extension, an etiology-specific treatment plan.
On September 29-30, 2014, Epi4K investigators came together with scientists and physicians from around the world to map out a strategy for accelerating the pace with which this goal can be achieved. Scientists, clinicians, and representatives from lay organizations, industry and government discussed the key challenges to achieving precision medicine for epilepsy and mapped out strategies to address these challenges—including new research collaborations, protocols for excellence in patient care, and immediate actions that can improve many facets of genetic testing and information for patients, providers, and the health care system overall.
The ongoing goal of the Epi4K consortium, Precision Medicine networks, and their partners is to to develop new personalized therapeutics for people with epilepsy. We invite you to join us.