Check out my latest post for the AAFP’s Fresh Perspectives blog
In the recent State of the Union address, President Obama requested $215 million to invest in precision medicine. It has since caused a lot of conversation and questions, likely out of proportion to the investment asking price. And while this has a huge potential to help many people, how will this affect Family Physicians and most of their patients?
The concept of precision medicine is to take the logical giant leap from gathering an accurate and complete family history (which gives very basic and limited information about one’s own genetics), to literally looking at one’s own genome. (hear about the basics from Dr Will Dere of the University of Utah.) But most people don’t have a need for this. For example, my paternal grandfather had 3 heart attacks with resultant congestive heart failure, which ended up taking his life. My father and his physician are acutely aware of this, and so necessary precautions are being taken to hopefully prevent this outcome (knock on wood, my father has avoided known coronary artery disease up to age 67). Would he benefit from the sequencing of his genome so as to know how best to prevent such a serious illness as heart disease? Probably not, at least not with our current genetic understanding.
Most people treated by a Family Physician would also not likely see significant benefit at this time from precision medicine as they are simply free of such significant diseases that would encourage investment in this area of medicine. Certainly the example of identifying an as-of-yet unforeseen disease through genomic sequencing is exciting and potentially worthwhile, but we don’t have the requisite knowledge of many of those genes, how they interact with other genes that specify the severity, timing, or impact of the disease on the individual, or whether a gene carrier will actually contract the illness. The data from our known genome is immense and terribly confusing, and thus we still don’t have a great grasp of what it all entails.
So how has the Human Genome Project provided an investment of $140 to every $1 spent? Since this has not directly impacted the vast majority of people in the US, why have such savings been possible? Because the known impact on precision medicine lies in relatively few diagnoses and treatments that tend to cost a significant proportion of our health care dollars. Francis Collins, Director of the National Institutes of Health, has stated that the initial focus will be on oncologic diseases, with others following thereafter, though many other debilitating diseases fit within this general realm as well.
One aspect of precision medicine not often discussed is the potential use in this information to decrease or even eliminate humans in pharmaceutical experimentation. As discussed in Bertalan Mesko’s recent work The Guide to the Future of Medicine, many platforms that create simulated models of human physiology are already being developed to this end. If a genome with certain characteristics is added to these models, a more precise (excuse the pun) answer could be found to the efficacy of a given treatment. This would provide a huge boon to safer and more accurate ways of testing novel therapies, providing indirect benefit to many beyond the above mentioned scope.
Hopefully by the time the near future investment in precision medicine provides better answers to oncologic diseases and treatments, we will have more answers to how this can be implemented in many more common diseases and treatments. Then will Family Physicians and other primary care physicians have even information with which to care for their patients.