Isaac S. Kohane

Isaac Kohane in Library

Isaac S. Kohane, MD, PhD

One hundred years ago, the Flexner report provided damning evidence of the sad state of the medical education system, and its implications for the quality of care provided and the lack of quality in biomedical research. Following the publication of that report, half of the medical schools in the US closed. We may be at a similarly pregnant moment in our medical education, medical research, and medical care system. Over the past 30 years, I have focused on twin tracks of research applied to biomedical discovery and clinical care to address this growing challenge. A synthesis of these tracks can be found in our approach to using healthcare systems as translational research engines that generate genomic-scale knowledge in the routine course of clinical care. This same toolkit, adopted by over 50 academic health centers worldwide and a growing number of commercial organizations, has also allowed studies of drug safety, and quality of care. Along with several colleagues I have developed a system—The Informed Cohort—that makes patients partners in discovery, personally benefiting from breakthrough research while preserving privacy, autonomy, and yet maintaining the role of healthcare providers in filtering the potentially harmful noise inherent in genomic and other biomedical discovery enterprises. Our vision is to make every patient encounter an opportunity for all of biomedicine to progress—alas not the usual modus operandi of medical care.

Biomedical Discovery

Clinical Care

It is perhaps in the nature of the bioinformatics discipline that we tend to adopt the macrobiological perspective where systematic mechanisms underlying observed biological processes and diseases are of greater interest rather than ascribing mechanistic primacy to individual genes, gene mutations, or organs. I have found the macrobiological perspective particulary effective as applied to reclassifying disease, and in particular in investigating the processes of development and how they run askew in particular diseases such as cancer. Remarkably, this comprehensive, quantitative approach has served to rediscover, at the molecular scale the observations of more than a century ago of Virchow, Cohnheim and other luminaries of the 19th century. In this spirit, we are now investigating how far the macrobiological perspective will take us in understanding autism spectrum disorder (ASD). That is, to study the molecular and cellular perturbations that cut across classically conceived neurophysiological, developmental and immunological mechanisms.

Why is it easier to find out what experience shoppers worldwide have had with the latest digital camera than it is to determine what adverse events patients have had with a particular drug? Why are blood tests and X-rays repeated needlessly? Why can one replace an application on an iPhone with a mouse click and require a team of engineers to do it for an electronic health record system? Mirroring the systems approach taken in biology,we have attempted to answer (through design and implementation) these questions including the pioneering of personal health record systems, distributed clinical query systems, and privacy protection mechanisms and policies. Most recently, we have focused on how to re-engineer electronic health record systems so that they are as easy to manage and customize as other complex but consumer facing systems (e.g. the iPhone) which fundamentally support our notion of substitutability.

Organizational & Academic Reponsibilities

Professor of Pediatrics and Health Sciences Technology, Harvard Medical School

PI, National Center for Biomedical Computing: Informatics for Integrating Biology to the Bedside

Director, Countway Library of Medicine, Harvard Medical School

Director, Children's Hospital Informatics Program

Co-Director, HMS Center for Biomedical Informatics

Co-Director, Bioinformatics and Integrative Genomics training program

Director, Informatics Program, Harvard Catalyst (CTSA)

Contact

isaac_kohane at harvard dot edu

617-432-2144

Looking to hire:

Senior programmer for i2b2.

Listening:

Miscellaneous Musings

Report of commercial activities

(disclosure in the interests of transparency and simplicity)

Company/Activity	CurrentConflict status/role
Correlagen (founder)	None. Company Sold
Humedica	Scientific Advisory Board (no equity)
SynapDx	Scientific Advisory Board (no equity)
Merck	Served on ad hoc internal scientific review committee. No equity.
Johnson & Johnson	Served on ad hoc internal scientific review committee. No equity.

An early (2002) view of the excitement and challenge and pragmatics of microarray applications to medicine: Microarrays for an Integrative Genomics

An earlier version of this page.

Organizational & Academic Reponsibilities

Membership

Images

Selected Publications

Miscellaneous Musings

Report of commercial activities