A revolution in healthcare is beginning to move from the lab to the bedside.  The first practical applications are emerging based on the mapping of the human genome, which was essentially completed in 2003.  Over the next 10-15 years there will be a profound transformation of healthcare based on the new knowledge created and the use of health information technology to store and manage that information.  The era of Personalized Medicine is just beginning.  What is “Personalized Medicine”?  Personalized Medicine (PM) uses new methods based on analysis of individual genetics and predictive modeling to better manage a patient’s disease or risk for a disease.  It aims to achieve optimal medical outcomes by helping physicians and patients to choose the right medicines and treatments most likely to be successful based on that patient’s unique genetic and environmental profile.  Personalized Medicine will allow us to have an enhanced ability to detect disease early, even before symptoms begin, optimize therapies and reduce the chances of side effects and manage health in a proactive manner over the course of a patient’s life.  We will longer lives with less illness and disabilities.

We are all genetically unique in some way.  As a result, medications work differently in different patients.  One medication may work very effectively in one person with few side effects while it doesn’t work at all with many side effects in another person.  Up until now we had no way to predict who would benefit and who would not.  PM would allow us to use genetic information to better predict what medicines would work in a particular patient.  For example, the effect of the “blood thinner” drug warfarin, used to prevent blood clots, is partially mediated by genetic variations in a drug metabolizing enzyme (CYP2C9) and a vitamin K activating enzyme (VKORC1).  Dosing is typically adjusted for the individual patient through multiple rounds of trial and error, during which time the patient may be at risk of excessive bleeding or further blood clots.  Every year over 400,000 patients experience adverse and sometimes life-threatening bleeding from warfarin therapy.  Dosing based on the genetic factors cuts in half the amount of time necessary to get to a stable dosing regimen (e.g. from 32 to 14 days).  PM will reduce or eliminate the trial and error risk for many drugs.  This would be especially important for the dangerous drugs that we use to treat cancers.  If we could be more sure that a particular regimen would work, it would save precious time and suffering that occurs when trial and error results in failure.

PM will result in profound changes in how medicine is practiced.  Instead of waiting for you to develop a disease and the resulting symptoms, doctors will obtain a genetic profile and put you into a customized risk reduction programs to prevent onset of the disease and/or aggressive monitoring programs to begin early customized treatments at the first sign of the disease.  The best treatment will be selected based on your personal genetic profile resulting in faster improvement and less side effects.  Keep your eye on this promising trend.

For Your Healthy Future:

  • Ask your doctor if there are any new tests based on your genetics that he or she would recommend you obtain.  This is especially important to consider if there are any diseases that “run in your family” like breast cancer.
  • Be sure to participate in any recommended screening tests and health risk appraisals offered by your doctor or your employer.  The most proven tests are often included in those and as PM approaches become more established, they will likely begin to be included as well.
  • If you have a particular condition and want to know if there are personalized medicine options, you can do a Google search that will likely identify information and research organizations involved in that area.  For example, search for ‘asthma +”personalized medicine”’ to find PM resources for asthma.  Include quotes around “personalized medicine” to make the search more specific.  Focus on reputable and known institutions because, as in any new treatment options, there will some who are promoting unproven methods just to make money.

Resources:

  • Vanderbilt Your Genome and the Future of Medicine: nice series of informative videos on the potential of PM.
  • Introduction to Personalized Medicine: by Duke University, overview and background on PM.
  • Personalized Medicine Coalition: The Personalized Medicine Coalition (PMC), was launched in 2004 to educate the public and policymakers, and to promote new ways of thinking about healthcare.  PMC represents a broad spectrum of over 200 academic, industry, patient, provider and payer communities.  They seek to advance the understanding and adoption of personalized medicine concepts and products for the benefit of patients.