Dennis Ausiello M.D. Physician-in-Chief and Jackson Distinguished Professor Medicine Emeritus and Harvard Medical School
Scott Lipnick Ph.D. Assistant in Biomedical Physics and Asssociate Massachusetts General Hospital and Harvard Medical School

The Next Frontier in Medicine Involves Better Quantifying Human Traits, Known As “Phenotypes”

The field of genetics has exploded since the mapping of the human genome, but despite the treasure trove of information it provides, the human genome alone does not liberate comprehensive understanding of the human condition. The next great leap in human measurement and analysis is mapping the phenome: the sum total of human traits. The Kavli Human Project (KHP) will greatly advance this process.

Advances in human genetics have identified many genetic contributors to disease risk. At the same time, there are ever more extremely large datasets available containing multiple types of data relevant to human health. Growing analytic and computing capabilities are enabling mining of these large datasets for insights at the level of individual patients or entire populations. Yet the methods used to diagnose disease have conspicuously lagged behind these recent exciting discoveries. This is because disease traits are also influenced by largely unmeasured environmental and behavioral factors.

The KHP will liberate progress by convening a wider range of expertise than is traditional, including device engineers, front-line physicians, geneticists, and experts in behavioral modeling. It will focus directly on the development of novel quantitative human measurements, or phenotypes. By tracking individuals in rich detail over a long period of time, the KHP will capture and catalog dynamic patterns of individual and social behavior in new and richer metrics than ever before. This will help us develop new approaches to measuring human health, and so we can quantify wellness and disease in a more continuous manner, rather than in the current episodic manner. It will allow us to combine data on individual genetics with new human phenotypes at multiple levels, including functional characterization of patient-derived cells, specific physiologic pathways, diet, the microbiome, and wearable physiologic sensors. With its fixed geographic base in New York, the KHP will enable us to measure environmental exposures, including potentially inhaled or ingested toxins, which are currently poorly measured. This will create another important new data resource that can be integrated with genotypic, phenotypic, and clinical information.

Over time, integrating phenotypes at multiple scales of biology (from cells to the whole individual) will likely become the new norm in human disease studies. This will benefit human health in numerous ways, from individual patient empowerment to biomedical discovery, as well as new approaches to diagnosis, prevention, and precision therapeutics.

In the remainder of the article we first discuss key advances in biological understanding and the failure as yet to realize the full potential of these discoveries to improve human health. We then sketch out the need for new behavioral measurements to advance understanding of the bio-behavioral complex followed by a discussion of how the design of the KHP can liberate such advances in measurement. We conclude by describing how the first implementation of such an endeavor—the newly formed Center for Assessment Technology and Continuous Health (CATCH) at Massachusetts General Hospital (MGH)—illustrates the high potential that increased monitoring has for improving health outcomes.

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Dennis Ausiello, M.D.1 ([email protected]), is the Jackson Distinguished Professor of Medicine at Harvard Medical School, Director of the Center for Assessment Technology and Continuous Health (CATCH), and Physician-in-Chief at Emeritus. Scott Lipnick1, Ph.D., is an Assistant in Biomedical Physics in the Department of Medicine at Massachusetts General Hospital and also holds an associate position at Harvard University in the Stem Cell and Regenerative Biology Department as an Imaging and Data Specialist. 

1 Center for Assessment Technology and Continuous Health, Massachussetts General Hospital, Boston, Massachusetts.

Big Data, published by Mary Ann Liebert, Inc., a highly innovative, peer-reviewed journal, provides a unique forum for world-class research exploring the challenges and opportunities in collecting, analyzing, and disseminating vast amounts of data, including data science, big data infrastructure and analytics, and pervasive computing. The above article was first published in the September 2015 issue of Big Data with the title “Real-Time Assessment of Wellness and Disease in Daily Life”. The views expressed here are those of the authors and are not necessarily those of Big Data, Mary Ann Liebert, Inc., publishers, or their affiliates. No endorsement of any entity or technology is implied.

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