Personalized Medicine – Back to the Future

Almost every day I get asked a similar question.  “Should I get…”  we fill in the blank with a test – mammogram, stress test, PSA, colonoscopy are common ones.  People are concerned about having a disease and want to know if they can do anything about it.  They are worried and a little scared of what they may find out.  In addition, people are presented with conflicting information – the cancer society recommends women get mammograms beginning at age 40, an advisory committee called the US Preventive Services Task Force (USPSTF) says 50.  The USPSTF says not to check PSA in men, the cancer groups disagree.  There are ads for home DNA tests, full body scans and “executive physicals” that claim to identify disease.  There are media stories of being able to use all this technology to tailor treatment to a persons genetic code – ushering in the age of “Personalized Medicine.”  

It is against this backdrop and expectation that people ask their doctors to be able to predict the future, or look at their blood tests and reassure them that they are safe.  When people purchase these tests or ask me about ordering a test, almost all are thinking that a normal result will reassure them they are ok – not about what a positive test means – or worse – an indeterminate test.

The result is we now have the ability to use technology to see what is normal or not – but our ability to find abnormalities is much greater than our ability to assign meaning to it.  Is that nodule on your full body scan something dangerous or is it an abnormality that likely has no clinical meaning or impact on health – what we call an “incidentaloma?”  What has happened as our ability to detect has exceeded our ability to interpret is the development of guidelines.

These guidelines evaluate a technology or test and give a recommendation on its use.  The recommendation is usually based on a review of published evidence or a review of selected evidence.  The review of evidence averages out differences in the population in an attempt to give a blanket recommendation.  These generalizations are then applied to individuals and often viewed as hard and fast rules instead of suggestions.  This non-discriminate application of guidelines is the exact opposite of what science is trying to accomplish with technology – resulting in depersonalized medicine.  

It is ironic that with all the technology we are developing to personalize care we have devalued the very thing that would allow its proper implementation – the doctor-patient relationship.  By coupling technology with a doctor’s knowledge of both an illness and the personal history of the patient in front of them an intelligent plan of how to apply technology can be developed.  Prior authorizations, approval requests and denials by insurance companies interfere with a doctor’s ability to do so.  These obstacles add more to the cost of care than the very tests a physician may be trying to order!  

I have spent the majority of my career advocating for the intelligent use of information technology and Electronic Health Records to enhance the care of the patient in front of the doctor.  Guidelines based on the “average person” can be applied to large populations with ease.  However, when you are discussing disease risks and testing with the individual sitting across from you, it becomes less clear-cut that they are the “average person” the guideline applies to.

So while a patient’s DNA may lead to personalized treatments to diagnose and cure illnesses the ability to deliver personalized medicine already exists – when a doctor and a patient take their history and intelligently apply technology to it – resulting in the best care for that person.

The path to wellness begins with a proper diagnosis