by Ralph Snyderman, M.D.
At a White House briefing on June 26, 2000 announcing the initial sequencing of the human genome, President Clinton said:
“Genome science will have a real impact on all our lives — and even more, on the lives of our children. It will revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.”
President Clinton likened the importance of this accomplishment to Galileo’s discoveries leading to the understanding of the motions of the universe, and he anticipated that cancer would be thought of as a constellation of stars rather than a disease.
Just last month, I had the privilege of delivering the opening address at the 11th Annual Personalized Medicine Conference at Harvard University. I was asked to reflect on the progress made in personalized medicine over the last 15 years. The title, “Personalized Medicine: Then, Now, and Coming Soon,” reflected my analysis.
By the late 1990s, it was clear to me that the confluence of rapidly emerging technologies including genomics, proteomics, metabolomics, bioinformatics, and digital technologies had the capability to profoundly impact the understanding of disease, but also, more importantly, enable the prediction of each individual’s disease susceptibilities, disease progression, and likelihood of disease events, thereby enabling a new form of health care. Rather than reacting to established disease, care could be personalized, predictive, preventive, and proactive. By 2002, my colleagues and I proposed a paradigm shift from disease care to personalized health care.
Since its inception, the field, often called personalized or precision medicine, has advanced in ways that could not have been anticipated at the onset. Most impressive has been the progress in genomic and related technologies. Next-generation sequencing, beginning in 2007, increased the speed and lowered the cost of gene sequencing at a rate far greater than Moore’s law. The capability to perform full genome or exome sequencing on millions of people as well as the coupling of each individual’s genomic data, environmental exposures, and clinical outcomes will profoundly impact our understanding of the drivers of health and disease. Progress in allied fields of “-omics” along with single-cell genomic and metabolic pathway analyses combined with the ability to store and analyze vast amounts of data are already providing far greater definition of the mechanistic basis of disease.
The greatest benefits of personalized medicine have been in the treatment of cancer, where the identification of the drivers of an individual’s disease has enabled therapies targeted to the specific pathology. Targeted therapies and companion diagnostics have already had a profound impact on cancer treatment. Advances in immunotherapy used in synergy with targeted therapies are recognized as the wave of the future.
In contrast to advances in technology and in diagnosing, defining, and specifically treating disease, progress in applying genomics to enhancing health and preventing disease has been disappointing. This is due in part to the difficulty of understanding the complexity of the roles of genetics and environmental factors in the development of chronic diseases. Even more important has been the refractoriness of the health care delivery system to embrace proactive and personalized approaches. This resistance is due in part to the system’s focus on treating established disease and a reimbursement system that rewards disease interventions rather than prevention.
In grading the progress of personalized medicine during its first 15 years, my assessment is as follows: Technological advances: A; Disease treatment: B (A for cancer, but thus far limited beyond this); Disease prevention: D-; and, Health enhancement: F.
Ralph Snyderman’s Personalized Medicine Report Card
|Progress: 2000 – 2015
Looking forward to the next decade, I am optimistic that great progress will be made in fulfilling the original dream for personalized medicine to prevent as well as cure disease. Technology is likely to continue to outperform expectations. Precision medicine initiatives with “big data” analysis will identify the genetic and environmental factors impacting health and disease, providing better tools for predicting and preventing chronic diseases. More and better targeted therapies, immunotherapies, and gene therapies will soon personalize the care of many diseases. Digital technologies will spur mobile health capabilities and enhance the involvement of patients in their care, a necessary component of disease prevention.
New models for delivering personalized health care are being developed and are beginning to demonstrate their effectiveness especially when coupled with strategies for enhancing patient engagement. Indeed, the Veterans Health Administration has identified personalized, proactive, and patient-driven health care as a strategic priority. I also have made the development of working models of personalized health care my primary focus.
I have been informed that I will receive the “Pioneer Award” at the upcoming Personalized Medicine World Conference in January 2016. For this, I am truly grateful. It has been a privilege and a joy to have participated in the transformation of medicine to personalized health care.
Ralph Snyderman, M.D.
James B. Duke Professor of Medicine