January 2012

NRC report calls for new disease taxonomy


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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