Business Strategy


Personalized Medicine—Humanity’s Ultimate Big Data Challenge Robert T Fassett, MD


Robert T Fassett, MD, is Oracle’s Chief Medical Informatics Officer. In this role, he works with healthcare organizations worldwide to help channel Oracle’s significant R&D efforts into solutions that providers and life sciences companies will use to transform healthcare. Previously, Dr Fassett led the development of Oracle’s healthcare-specific data warehousing and analytics products and solutions. Before working for Oracle, he founded a speech recognition software company that was acquired by Oracle and spent several years as a biotech consultant in molecular diagnostics and gene therapy. Dr Fassett is a primary care physician who received his medical degree and clinical training from the David Geffen School of Medicine at the University of California, Los Angeles.


Disclosure: The author has no conflicts of interest to declare. Correspondence: robert.fassett@oracle.com


Citation: iHealth Connections, 2011;1(2):90–5


Acknowledgment: Editorial assistance was provided by Touch Briefings. Support: The publication of this article was funded by Oracle Health Sciences.


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.


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


90


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


We have begun to appreciate the non-linearity of the old DNA–RNA–protein central dogma and now see phenotype as the result of a complex network of interactions that include DNA structural modifications, novel transcriptional regulation via microRNA and short interfering RNA, post-translational modifications, etc.10


hundreds of genotype–disease linkages, some of which have strong clinical implications.9


Astonishingly, we


have vision into the transcriptome and proteome at the single-cell level.11 All this will soon result in the almost overwhelming growth of the fundamental substrate for personalized medicine: data.


Medicine’s Deep Space Objects


Individualizing treatment for a given patient is a truly daunting, data-driven task. It is not just a matter of wading through three billion base pairs to find a sequence variant that correlates with a particular disease. It is the multivariate ripple effects these polymorphisms have across the DNA–RNA–protein network, and then their interactions with the person’s environmental and lifestyle history, that must be understood. Given the magnitude of this endeavor, the resources committed, and the global cooperation that is needed, this is biology’s version of ‘big science.’


© TOUCH BRIEFINGS 2011


Page 1  |  Page 2  |  Page 3  |  Page 4  |  Page 5  |  Page 6  |  Page 7  |  Page 8  |  Page 9  |  Page 10  |  Page 11  |  Page 12  |  Page 13  |  Page 14  |  Page 15  |  Page 16  |  Page 17  |  Page 18  |  Page 19  |  Page 20  |  Page 21  |  Page 22  |  Page 23  |  Page 24  |  Page 25  |  Page 26  |  Page 27  |  Page 28  |  Page 29  |  Page 30  |  Page 31  |  Page 32  |  Page 33  |  Page 34  |  Page 35  |  Page 36  |  Page 37  |  Page 38  |  Page 39  |  Page 40  |  Page 41  |  Page 42  |  Page 43  |  Page 44  |  Page 45  |  Page 46  |  Page 47  |  Page 48  |  Page 49  |  Page 50  |  Page 51  |  Page 52  |  Page 53  |  Page 54  |  Page 55  |  Page 56  |  Page 57  |  Page 58  |  Page 59  |  Page 60  |  Page 61  |  Page 62  |  Page 63  |  Page 64  |  Page 65  |  Page 66  |  Page 67  |  Page 68  |  Page 69  |  Page 70  |  Page 71  |  Page 72  |  Page 73  |  Page 74  |  Page 75  |  Page 76  |  Page 77  |  Page 78  |  Page 79  |  Page 80  |  Page 81  |  Page 82  |  Page 83  |  Page 84