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Name of Submitter:
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Clifford Woolf
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Title of proposed idea:
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Evidence-based disease diagnosis
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What is the major obstacle/challenge in the biomedical research field? What is needed to overcome this obstacle/challenge?
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Diagnosis of disease is typically based on phenotyping patients; identifying that set of symptoms, signs and special investigations which match the established classification criteria of a particular disease, citeria that are commonly agreed to by evolving consensus and expert opinion. Increasingly it is recognized though, that many common broad disease labels encompass a heterogeneity of specific disease subclusters which may have a different etiology, pathophysiology, natural history, heritability, and response to treatment. The challenge facing the medical community is how most effectively to use evidence as the formal driver of clinically meaningful diagnostic criteria, and who should be responsible. |
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What emerging scientific opportunity is ripe for investment by the Common Fund?
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The combination of whole-genome sequencing and more sensitive clinical and pathological tests is revealing an unsuspected granularity to the disease phenotype; diseases are more like countries than continents. Nevertheless, there are few mechanisms for evaluating disease classification criteria that are based on hard data, as perhaps best exemplified by the DSM for psychiatric disease. Decisions about who is depressed, has autism spectrum disease or chronic pain, or whether addiction is a disease etc., are currently insufficiently led by experimental and epidemiological evidence or by clinical trials. An NIH-funded Disease Diagnosis Center would be an ideal forum to take a lead in such an endeavor; developing the necessary methodology, collecting and evaluating data on disease phenotype and its association with genotype, as well as identifying the mechanisms responsible, susceptibility and predictors of response to therapy. |
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What are the potential Common Fund investments that could accelerate scientific progress in this field?
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An NIH funded multidisciplinary inter-institutional Center with the remit to specifically assess how to use evidence to establish diagnostic disease criteria, test these in prospective trials and evaluate their impact on treatment. |
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If a Common Fund program on this topic achieved its objectives, what would be the impact?
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A shift to an evidence-based approach to disease classification would have enormous impact on diagnosis, treatment and reimbursement. |
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