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Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease

Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease

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Published by earthandlife
A new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of disease and ultimately enhance diagnosis and treatment. Recent advances in biomedical research have caused an explosion of data, offering the potential to develop a "new taxonomy" that defines disease based on underlying molecular and environmental causes, rather than on physical signs and symptoms. This report outlines how research and clinical data can be captured in a "knowledge network" that will be broadly accessible to researchers and clinicians. As well as improving health care, the new data network could also improve biomedical research by enabling scientists to access patient information through electronic health records, while still protecting patient rights.
A new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of disease and ultimately enhance diagnosis and treatment. Recent advances in biomedical research have caused an explosion of data, offering the potential to develop a "new taxonomy" that defines disease based on underlying molecular and environmental causes, rather than on physical signs and symptoms. This report outlines how research and clinical data can be captured in a "knowledge network" that will be broadly accessible to researchers and clinicians. As well as improving health care, the new data network could also improve biomedical research by enabling scientists to access patient information through electronic health records, while still protecting patient rights.

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Published by: earthandlife on Nov 02, 2011
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08/09/2014

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T
oday, in a clinicsomewhere inAmerica, a patient islearning that he has diabetes.Based on the patient’ssymptoms and lab tests thatshow high levels of insulin,his doctor diagnoses Type IIdiabetes—but this imprecisecategory serves only todistinguish the disease fromdiabetes that typicallyoccurs at an earlier age(Type I) or during preg-nancy (gestational). Thedoctor will likely prescribe metformin, the mostcommon treatment for Type II diabetes in theUnited States, but the physician has no way of knowing how the patient will respond to thedrug. The doctor can’t predict if the patient willexperience diabetes-related complications suchas kidney failure or blindness, and there are noindicators of the risk of diabetes to the patient’ssiblings or children.Consider a world where the scenario isdifferent. Here, biomedical research hasrevealed a series of molecular and environ-mental factors that underlie several sub-typesof diabetes. Looking at the patient’s medicalhistory and genome information along withother molecular data , the doctor is able toidentify precisely what the patient is sufferingfrom and devise a customized treatment plan.The doctor can also predict if other familymembers will likely developdiabetes in the future, and if necessary could implement preventative care.In recent years, dramaticadvances in biomedicalresearch have created anexplosion of data that could be used to move toward sucha world of improved healthoutcomes. However,currently there is a discon-nect between scienticadvances in research and theincorporation of this infor-mation in the clinic. It can take years for  biomedical research information to reach doctorsand patients, and in the meantime wastefulhealth care expenditures are incurred for treat-ments that are only effective in specicsubgroups. In addition, researchers don’t haveaccess to the wealth of clinical data on patientsthat is collected at the point of care. Overall,opportunities to understand, diagnose, and treatdisease more accurately and better informhealth care decisions are being missed.This report provides a framework for devel-oping a more precise and more accurateclassication of disease based on molecular  biology—a “New Taxonomy” of humandiseases—that could revolutionize diseasediagnosis, therapy, and clinical decisions,leading to more individualized treatments andimproved outcomes for patients.
Toward Precision Medicine: Building aKnowledge Network for BiomedicalResearch and a New Taxonomy of Disease
A new data network that integrates emerging research on the molecular makeup of diseaseswith clinical data on individual patients could drive the development of a more accurateclassication of disease and ultimately enhance diagnosis and treatment. Recent advances inbiomedical research have caused an explosion of data, offering the potential to develop a “NewTaxonomy” that denes disease based on underlying molecular and environmental causes,rather than on physical signs and symptoms. This report outlines how research and clinicaldata can be captured in a “Knowledge Network” that will be broadly accessible to researchersand clinicians. As well as improving health care, the new data network could also improvebiomedical research by enabling scientists to access patient information through electronichealth records, while still protecting patient rights.
 
Beneting from New Research and Technologies
Advances in research and emerging technologieshave the potential to transform medicine. For instance,in recent years the cost of obtaining an individual’sgenome sequence has fallen rapidly. Genomesequencing could soon cost as little as $1000 and isexpected to become a routine clinical test to helpdoctors better diagnose and treat diseases. The increasein genetic data has already boosted understanding of theroot causes behind some diseases and conditions. For example, by looking at the genomes of patients withhigh cholesterol, scientists found that a signicantnumber of the patients had a non-functional copy of agene that encodes a low-density-lipoprotein-receptor.For these individuals, lifestyle interventions such as dietand exercise alone were ineffective at reducing the earlyonset of cardiovascular disease. Identifying these patients would allow their doctors to prescribe statindrugs at an early age rather than rst attempting tocontrol cholesterol with diet and exercise. There isstrong evidence that the early use of statin drugs inthese individuals can provide a therapeutic benet. Theemergence of new technologies to investigate other  biological features of disease is expanding abilities todescribe and understand disease.
Harnessing Emerging Disease Data
In order to harness the power of emerging diseasedata, systems are needed to collect and make the infor-mation widely accessible. The committee suggested aframework for creating an information system called aKnowledge Network of disease that integrates therapidly expanding range of information on the causes of disease and allows researchers, health-care providers,and the public to share and update this information (seeFigure 1).
Figure 1.
This diagram illustrates a comprehensive biomedical information network that supports a New Taxonomy of disease.
 
Such a system is centered around an “InformationCommons,” a data repository that links layers of molec-ular data, medical histories, including information onsocial and physical environments, and health outcomesto individual patients (see Figure 2). Data would becontinuously contributed by the research communityand from the medical records of participating patients.
Using the Knowledge Network 
The Knowledge Network would impact all aspects of  biomedicine and health care. By analyzing connections between information sets (for example between thegenome and environmental exposures) basic scientistswould be able to formulate and test disease mechanisms,and clinicians could develop new treatments based onunique features of a disease and tailored to each patient.The availability of more diverse information about eachdisease would allow insurers and health care providersto more precisely dene disease subtypes.Traditionally, academic research laboratories havehad little connection with clinicians’ ofces. In order tond groups of patients or patient-derived samples for study, researchers have had to use informal referralnetworks to identify physicians working with patientswith diseases of interest. After contributing to the study,the patient is unlikely to remain connected to theresearch process, or be aware of the outcomes. Becausethe Information Commons is continuously updated withnew information, researchers would be able to conductlong-term follow-ups and better understand how patientsrespond to treatments over long periods.The initiative to develop a New Taxonomy—and itsunderlying Information Commons and Knowledge Network—is a needed modernization of currentapproaches to integrating different types of data, not an“add-on” to existing research programs. Enormousefforts are already underway to achieve many of thegoals of this report, but the committee found that asystem-wide emphasis on shifting the acquisition of molecular data to point-of-care settings and the coordi-nation required to ensure research data reach theInformation Commons and Knowledge Network isoften missing.
How Do We Get There?
The committee outlined a number of steps towardcreating an Knowledge Network of disease and derivinga New Taxonomy from it.
Conduct pilot studies that begin to populate theInformation Commons with data
Pilot studies, including those conducted in heath caresettings, would help scientists gure out how tointegrate molecular data with medical histories andhealth outcomes in the ordinary course of clinicalcare. These studies would address the institutional,cultural, and regulatory barriers to widespreadsharing of individuals’ molecular proles and healthhistories while still protecting patients’ rights. Muchof the initial work necessary to develop theInformation Commons should take the form of observational studies, which would collect molecular and other patient data during the normal course of treatment.
Integrate data to construct a knowledgenetwork of disease
As data from pilot studies begins to populate theInformation Commons, substantial effort should gointo integrating these data with the results of basic biomedical research in order to create a dynamic,
Figure 2.
The proposed Information Commons (
right panel 
) is somewhat analogous to a Geographical Information System (GIS) suchas Google Maps (
left panel 
). GIS was launched following public access to Global Positioning System (GPS) data and dramaticimprovements in database technology—comparable to current advances in biomedical data generation and handling. Like GoogleMaps, the Information Commons would consist of multiple layers of data that together provide insights that could not be gained fromany of the layers alone.
Source: FPA 2011 (
left panel 
)

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