An article by Chen et al., published recently in the journal Cell, offers us what Eric Topol has already dubbed “panor-omic” insight into a potential future — one in which our genomic data can be cross-correlated against other “omic” data (including transcriptomic, proteomic, metabolomic, and autoantibody profiles) to give individualized insights into our current clinical disorders and our risks for future disorders.
This is a fascinating study that (as far as I can tell) has yet to receive any notice on this web site.
The study was actually carried out using blood samples drawn over a period of 14 months from the study’s own senior investigator, Michael Snyder, MD, of the Department of Genetics at Stanford University School of Medicine. And it is a landmark study that gives a very precise illustration of what is possible — diagnostically and prognostically — today.
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The authors describe the development of and “integrative personal omics profile” or iPOP for Dr. Snyder, which includes:
- a variety of risks for specific clinical disorders (including type 2 diabetes);
- significant and dynamic changes in molecular components and biological pathways across healthy and diseased conditions;
- extensive heteroallelic changes during healthy and diseased states;
- an unexpected RNA editing mechanism.
Cell has kindly (and appropriately) made the entire text of this paper accessible on line.
There are two particularly exciting aspects to this paper.
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In the first place it documents proof of the possible. By carrying out such studies involving billions of data points on a single individual, Chen et al. have demonstrated that we really are already able to implement highly accurate diagnostic and prognostic profiling and implement effective management decisions. In the second place, given the astonishing and ongoing decrease in the costs associated with the generation of this type of “omic” database for individual patients, we should soon be able to use such “panor-omic” profiling to better diagnose patients with rare and unidentified disorders and initiate appropriate treatment of these individuals years earlier than is often the case today.
For those in the evolving development of systems to generate, categorize, and interpret such vast sets of “omic” data, the importance of this study is critical. It provides proof of principle as well as a “real life” model for how to systematize, categorize, and interpret the data sets involved.
For the future evolution of the process of diagnosis and prognosis and the prediction of medical risk, it brings to real life many of the sociological and ethical issues that have (to a large extent) been relatively academic in the past. How do we address and manage the real knowledge that we are at specific risks for specific types of disorder over a lifetime?
E. Michael D. ("Mike") Scott is Executive VP / Executive Rebel with Vox Medica, Inc., an independent, Philadelphia-based, healthcare communications group of companies. He is also the current chairman of the National Organization for Rare Disorders (NORD).
Mr. Scott was born and educated in the UK, and has lived in the USA since 1985. He has spent some 40 years in the fields of scientific and medical communication, with specialized interests in areas from academic and educational publishing to advertising, public relations, public health, and advocacy. He is a member of the Board of Directors of NORD and of the International Myeloma Foundation, a co-founder of Prostate Cancer International, and a member or associate member of several professional organizations in the fields of oncology, hematology, urology, drug information, and medical writing. His primary professional interests today are in communications strategy, health care advocacy, and issues affecting the evolution of access to quality health care, with particular emphasis on cancer and rare disorders. He holds a BSc (Hons) in biochemistry from the University of Sussex.
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