by Craig Klugman, Ph.D.
How do physicians diagnose disease? First they go through a set of symptoms and then compile a list of differential diagnoses or what the underlying disease may be. Then the doctor performs tests to rule out some diagnoses and advance others. In essence, though, diseases are classified according to their affect on the body—their symptology. What if instead of by symptoms, diseases were classified by their molecular function? Instead of being diagnosed with Type II Diabetes one might be diagnosed by whether there is a death of beta cells (i.e. production of insulin) or if the receptors do not work and cannot bind with insulin proteins (i.e. insulin resistance). This change in disease classification is part of an initiative known as “precision medicine.”
In his State of the Union Address, President Barack Obama outlined his $215 million “Precision Medicine” initiative. The idea is to use knowledge of genetics, health threats, and individual responses. For example, some people with Type II Diabetes may lose a limb and others may not. Would an examination of their DNA give a clue that would permit the development of a predictive test as to who is at risk for limg problems? People with the same disease often have it affect them in widely different ways. Precision medicine hopes to use techniques of big data and DNA analysis to discover whom and why.
This notion comes out of a 2011 Institute of Medicine Report: Toward Precision Medicine: Building A Knowledge Network for Biomedical Research and A New Taxonomy of Disease.
The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.