Toward Precision Medicine Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease (2011) / Chapter Skim
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4 How Do We Get There?
4 How Do We Get There?
Pages 59-74
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From page 59... ...
However, we also emphasized that these resources will forever remain "works in progress." As information technology, basic science, health research, and medicine undergo successive waves of change, both the content and structure of the New Tax onomy and Information Commons are expected to evolve, likely in directions that are presently impossible to envision. Consider, by analogy, early attempts to conceptualize the world-wide web compared to the use of the internet today.
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From page 60... ...
A NEW DISCOVERY MODEL FOR DISEASE RESEARCH The current model for relating molecular data to diagnoses and clinical outcomes typically involves abstracting clinical data for a modest number of patients from a clinical to a research setting, then attempting to draw correla tions between the abstracted clinical data and molecular data such as genetic
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From page 61... ...
Instead of moving clinical data and patient samples to research groups to allow analysis, the molecular data of patients should instead be directly available to researchers and healthcare providers. The Committee recognizes that this is a radical departure from current practice and one that faces significant challenges, nonetheless, because we believe this new discovery model would have dramatic benefits, we believe that aggressive steps should be taken to implement it.
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From page 62... ...
By demonstrating value for patients, the pilot studies will seek to lay the ground work for a sustainable discovery model in which relevant clinically validated molecular data are routinely generated at the "point of care" because they meet the commonly accepted risk-benefit criteria that apply to all clinical test results. PILOT STUDIES SHOULD DRAW UPON OBSERVATIONAL STUDIES As emphasized above, the Committee believes that much of the initial work necessary to develop the Information Commons should take the form of observational studies.
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From page 63... ...
In general, clinical utility will need to be evaluated using randomized clinical trials. Observational studies will also need to be followed by functional studies that seek to determine the mechanistic basis of observed molecular associations with clinical outcomes.
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From page 64... ...
Below, we outline two example pilot studies; the first, "The Million Ameri can Genomes Initiative", is selected to pilot the use of one of the key layers of ‘omic information that is "ready to go". This pilot project would help to populate the Information Commons with relevant data and facilitate learning how to establish connections with other layers.
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From page 65... ...
For example, pilot projects of sufficient scope and scale could lead to the development of new discovery models, including those in which patient groups self-organize in recognition of shared clinical features and then pursue efforts to generate relevant molecular data. Such an initiative also would permit many logistical, ethical, and bioinformatic challenges to be addressed in ways that would benefit future efforts and lead toward the sustainable imple mentation of point-of-care discovery efforts.
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From page 66... ...
As much as possible, on-the-ground experience in pilot projects carried out in diverse health-care settings, rather than top-down dictates, should govern the emergence of best practices in this sensitive area, whose handling will have a make-or-break influence on the entire Information Commons/Knowledge Network/New Taxonomy initiative. Inclusion of healthcare providers and other stakeholders outside the academic community will be essential.
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From page 67... ...
The HIPAA required the federal government to develop regulations for protecting the privacy of personal health information. The HIPAA privacy regulations, which are intended to protect patient privacy, inhibit research that requires widespread sharing and multi-purpose use of data on individual patients in several ways (IOM 2009)
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From page 68... ...
The Committee found a need to re-interpret -- or perhaps reformulate -- HIPAA regulations, and is in agreement with the 2009 IOM report "Beyond the HIPAA Privacy Rule: Enhancing Privacy, Improving Health Through Re search," which found that the HIPAA privacy rule fails to protect privacy as intended (IOM 2009) , and, as currently implemented, impedes important health research and imposes burdensome administrative requirements (IOM 2009)
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From page 69... ...
The Committee does not envision the desirability or need, in the context of the research required to populate the Information Commons with data and derive a Knowledge Network from it, for the instant-data-release model adopted during the Human Genome Project. However, it does believe that timely, unrestricted access to datasets by researchers with no connections to the investigators who created them will be essential.
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From page 70... ...
Over the long term, once such data have been shown to yield clinically useful information, it will become justifiable to expend health-care resources on the collection of actionable data, just as is presently done for standard diagnostic tests. However, until such data are shown to be clinically useful, it is unrealistic to expect that the Information Commons will become populated by biological data (such as genome sequences)
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From page 71... ...
One concern is that the infusion of large molecular datasets into clinical records will reinforce a tendency many perceive as already crediting genetic and other molecular findings with more weight than they deserve. In extreme cases, this cultural bias has enabled the promoting and marketing of "omic" tests with no clinical value whatsoever (Kolata 2011)
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From page 72... ...
. The multicolored bars in the nodes and connections course represent fundamental principles and essential facts about each key process inte grated across scales.
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From page 73... ...
In this teaching model a given topic -- for example, gene expression -- would be taught in a vertically integrated fashion, with essential information all the way from the atomic to the whole-organism scale discussed. Adjusting teaching strategies to reflect the biological reality of the material has the potential to cre ate significant synergies.
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