January 2012

NRC report calls for new disease taxonomy

Molecular biology findings must be included, it says


NRC_reportLate last year, the National Research Council released a report calling for a new data network to integrate the latest research on the molecular causes of diseases with clinical data from individual patients. The report said that the network could lead to a more accurate classification of disease and, in turn, a new taxonomy, which would improve clinical diagnoses and treatments. The committee that put together the report argued that the time was right to embark on this change, given the richness of current biological data, advances in information technology and the changes needed in the U.S. health-care system. The NRC undertook this study at the request of Francis S. Collins, the director of the National Institutes of Health.

“Currently, a disconnect exists between the wealth of scientific advances in research and the incorporation of this information into the clinic,” Susan Desmond-Hellmann, co-chair of the committee that authored the report and chancellor of the University of California, San Francisco, said in a statement. “Often it can take years for biomedical research information to trickle to doctors and patients, and in the meantime wasteful health care expenditures are carried out for treatments that are only effective in specific subgroups. In addition, researchers don’t have access to comprehensive and timely information from the clinic.”

To develop the new disease taxonomy, the committee recommended creating an “information commons” to bring fundamental molecular research (such as findings in epigenetics, metabolomics, genomics and proteomics) together with medical histories,environmental exposures and treatment outcomes of individual patients. The information commons then would be mined to understand and integrate the connections between the different types of data to produce a knowledge network. The new disease taxonomy would rise from a better understanding of the connections between molecular biology and clinical data derived from large patient numbers within the knowledge network.

Molecular biologists and biochemists stand to benefit from this proposed setup. Keith Yamamoto, a molecular biologist at the University of California, San Francisco, who served on the committee, explains that the information commons and knowledge network will broaden the scope of fundamental research. With a database at their fingertips that links disparate types of data — for example, genomic analyses and behavioral studies— investigators will find it easier to identify interesting hypotheses to pursue and to find potential collaborators with the specific expertise to build the multidisciplinary team necessary to tackle the hypotheses. “The knowledge network will allow you to fi nd things you were not looking for, much the way that Google does,” explained Yamamoto.





The proposed framework for building a biomedical knowledge netowrk for basic discovery and medicine. Image from the National Research Council of the National Academies.

Validation of information within the proposed setup was a focus in the report. Yamamoto envisions a Wikipedia-like model in which researchers confirm or dispute research findings. Claims of new links between different research areas can be validated by other investigators. If the claims don’t stand up to scrutiny, they will disappear. Upon meeting a rigorous validation standard, information within the knowledge network will create a new taxonomy of disease that will affect clinical practice by changing the way clinicians make diagnoses, choose therapeutic routes and advise patients on the need for intervention.

One of the committee’s recommendations was to set up pilot studies. These pilot studies should assess the feasibility of integrating molecular parameters with medical histories in the ordinary course of care. These studies also will explore how to gradually eliminate institutional, cultural and regulatory barriers to the sharing of patients’ molecular profiles and health histories while still protecting their privacy.

Both Desmond-Hellmann and co-chair Charles Sawyers, a Howard Hughes Medical Institute investigator at Memorial Sloan-Kettering Cancer Center, emphasized that the data network and the taxonomy won’t appear overnight. In a statement, Sawyers said, “Developing this new network and the associated classification system will require a long-term perspective and parallels the challenges of building Europe’s great cathedrals— one generation will start building them, but they will ultimately be completed by another, with plans changing over time.” The report can be obtained at http://bit.ly/vEnths.

Raj_MukhopadhyayRajendrani Mukhopadhyay (rmukhopadhyay@asbmb.org) is the senior science writer for ASBMB Today and the technical editor for the JBC.

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