Personalized Medicine—Humanity’s Ultimate Big Data Challenge

Robert T Fassett
iHealth Connections, 2011;1(2):90–5
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Abstract

At the heart of personalized medicine lie big data, really big data—from rapidly accelerating omics research, from deployments of electronic medical records, and soon from social networking, telemedicine, and the ‘Internet of Things’ remote sensors. The impact personalized medicine will have in transforming healthcare will depend not only on how well we gather and analyze these big data, but also on how effectively we transmit their derivative insights and interventions out to clinicians and ultimately their patients.

Acknowledgment: Editorial assistance was provided by Touch Briefings. Support: The publication of this article was funded by Oracle Health Sciences.
Disclosure The author has no conflicts of interest to declare.
Correspondence: robert.fassett@oracle.com

We have reached an inflection point between the insular ‘sickcare’ non-system of the past and the collaborative, proactive, true ‘health and wellness’ system of the future. To overcome the inertia of our current ‘system’, disruptive forces are being applied—access reform, value-based reimbursement, evidence-based clinical guidelines, quality reporting, medical homes, and accountable care, among others.1,2

High-definition Healthcare

Another important vector for change has grown out of our massive collective investment in basic biomedical and clinical research. For example, the US alone has funded its National Institutes of Health (NIH) with $484 billion since 1950, with a current annual budget of over $30 billion.3 As we have come to better understand the phenotypic, genotypic, environmental, and lifestyle factors that determine our health, it has become clear that disease and wellness are inherently personal. Any two persons have 99.6 % of their DNA in common. In the remaining set of 24,000,000 base pairs that we each call our own lies humanity’s diversity, our individual predilection for disease, and the potential for truly personalized medicine.4

The US National Cancer Institute defines personalized medicine as “a form of medicine that uses information about a person’s genes, proteins, and environment to prevent, diagnose, and treat disease.”5 This is not to imply that, heretofore, the practice of medicine has been somehow impersonal. Hippocrates already recommended cold foods for ‘phlegmatic patients.’ Two millennia later, we understand that African-Americans respond differently to antihypertensives and prescribe accordingly. What is compelling about this new definition is its resolution. We are now capable of tailoring health and wellness at the molecular level—healthcare in its highest possible definition.6,7

In eight short years, we have progressed from a single human genome to the HapMap, and now to inexpensive whole-genome sequencing and the 1000 Genome Project.8 Genome-wide association studies have identified hundreds of genotype–disease linkages, some of which have strong clinical implications.9

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