City of Paris

George Poste, DVM, PhD, Arizona State University, and Leroy Hood, MD, PhD, Institute for Systems Biology, both gave scintillating talks at the 5th Annual Burrill Personalized Medicine Meeting last week. Poste offered a big-picture view of healthcare and the sociopolitical, regulatory and business environment within which innovation must thrive and advance. He spoke of the need for “harmonizing incentives for diverse constituencies” and the inefficiencies and waste associated with the current system of siloed care and procedure-based reimbursement, and pointed to the estimated annual cost of $177 billion attributed to patient noncompliance. Hood, on the other hand, made an eloquent overview of P4 (predictive, personalized, preventive and participatory) medicine as the inevitable wave of the future. He described the elegant science and the diagnostic and prognostic power of organ-specific blood fingerprinting, and boldly predicted the availability, within the next five to ten years, of $1,000 genome sequencing, routine screening of 2,500 blood proteins as part of wellness assessment and the analysis of 1,000 transcriptomes on a single run for disease stratification.

But if there was a common thread through these two talks, it was the enormity of the informatics challenge at hand. Poste used biomarkers as an example of the current “evidence dilemma.” There are more than 300,000 biomarkers in the literature today, many of which are poorly characterized and based on small-cohort studies. There are no standardized assays and little statistical robustness. Poste envisions a strategic triangle and a Dx-Tx-iHx (diagnostics-therapeutics-informatics) technology convergence, and the rise of open-source networks and consortia as scientists learn to share results and collaborate to address what he calls the omics data tidal wave. On a patient care level, Poste lamented the inefficient use of information today and envisions a new era of connectivity, where informatics is an integral part of clinical decision support.

Hood spoke of the digitalization of biology and biology as an information science. He framed the problem of too much data as one of signal to noise, where noise is winning today. He illustrated how probability models can be used to make dramatic improvements using the recently completed genome sequencing of a family of four. Using Mendelian genetics, the research team was able to reduce errors tenfold and narrow down the disease gene candidates more quickly. Hood is obviously a proponent of sequencing genes of families, where Mendelian genetics can be applied as part of the strategy to streamline analysis and reduce errors. Like Poste, Hood noted that a sound strategy for mining patient data and overcoming the technological and legal-social barriers for doing so is a high priority. And he echoed Poste’s call for standardization, especially in areas such as proteomics.

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