APPROACH & METHODOLOGY
The Genetic Care Interchange (Interchange) picks up where the Human Genome Project left off. That project used the tools of that era to map the sequence of one representative genome to form a reference for research. This program will also build a reference set, but for many individuals instead of one. This large reference set will be the result of alignment and cooperation among several leading medical institutions capturing genetic and medical information in a systematic way to allow comparative medical analysis. Participating institutions will offer sequencing-based genetic analysis services to patients, in a medically-mediated fashion and with appropriate IRB protocols, patient informed consents, and case report forms in place for data capture and use. A trained physician would then be able to query the database in the course of a genetic patient workup, finding similar patients on the network. The Interchange would return a report to the trained physician with pertinent medical information about similar patients, potentially providing insights, for instance which therapies had been successful or unsuccessful for patients with a similar genotype. While this information will not constitute medical guidance, it is one more resource for experts to consider in developing treatment plans for a patient.
Patient data privacy is a central concern in the development and implementation of the Interchange. Patient data will be held by participating medical institutions. The central Interchange index solution will be limited to very select data fields in a way that precludes identification of any patient, configured to enable very specific structured queries. Medical data such as treatment and outcome that will be returned to physicians will be unidentifiable to any individual patients. Because data will be made available for research and medical use, and will be distributed by a commercial entity, IRB approval and informed patient consent will be mandatory for all partners. Confidentiality, regulations, and bioethics standards will be prudently adhered to throughout the project.
The Interchange will establish and implement standardized testing practices based on the Ion Torrent semiconductor-based sequencing platform, a technology whose speed, accuracy, and cost-effectiveness may put clinical genomic analysis within reach. When tests are validated and IRB-approved protocols are in place, institutions will begin enrolling patients in their services. Standardized communications tools will ensure that value propositions are made clear and that expectations are set appropriately with patients and physicians. A substantial portion of patient awareness and recruitment effort will be dedicated to reaching those living in underserved communities, with a target of 10 percent of patients from these communities.
Interchange institutions will have input into test development, data standards, and Interchange governance for continuous improvement. Tests will analyze and report the genetic mutations with the greatest relevance to cancer diagnosis and treatment, so that institutions can capture the same genetic data set for patients across geographies. Participating physicians will be able to see which drug treatments benefited patients with specific genetic profiles, as an information resource to derive optimum protocols for their own patients. With open-source software business models as a guide, the Interchange will engage the interests and energies of scientists, software developers, physicians, payers, and healthcare institutions. This will lead to improved utilization, effectiveness, and efficiency of solutions to identify targeted cancer therapies.
IMPLEMENTATION, TIMELINE, AND DELIVERABLES
The Interchange plans to enroll 100,000 patients by June 2014, and 400,000 patients by 2016; during this time, the Interchange will expand to include twelve to twenty health centers, annually.
Founding Interchange institutions will be identified in late 2011, and will develop and validate their testing processes and IRB-reviewed protocols by early 2012. Interchange institutions will then begin recruiting and testing cancer patients by early 2012. Recruitment will continue on an ongoing basis. Interchange institutions will cooperate in the development of data standards, and will begin compiling data on patients that enroll in their services. Data exchange solutions will be developed by Life Technologies for deployment in the first half of 2012 to founding Interchange institutions (initially as beta users). Interchange data-exchange should therefore begin sometime in early-to-mid- 2012. During this period, the Interchange will begin to develop the computational capabilities necessary for the analysis and reporting of data sets for clinicians and clinical investigators, for release as the data begins to reach critical mass for meaningful analysis. By year-end 2012, Interchange institutions might be using early versions of these tools. In 2013 and beyond, the Interchange plans to develop online resources for patients to learn about the biology of their disease and to potentially learn from one another's experience; importantly, this is by no means intended to be a direct-to-consumer genetics offering; rather, these online tools will enhance patient engagement in a medically mediated process. The Interchange will be limited to 10-15 founding institutions worldwide in its first year. Beginning in late 2012, the Interchange will add participating institutions at a rate of 12-20 per year, for approximately 90 partner institutions by 2017. At this point, approximately 500,000 patients could be added per year and at least one million patients will be included in the Interchange data resource.
If cancer care is to advance, doctors need to be able to classify each case by its distinctive genetic profile, and to link them to evidence-based therapeutic outcomes. This is what the Genetic Care Interchange seeks to do.
Life Technologies will provide the standardized testing solutions so that all tumors can be classified in a consistent way across all patients and across institutions. Lybba will create an open-source 'care and learning health network' that offers ways for researchers, clinicians, and patients to benefit from one another's insights and innovations, resulting in a model of personalized medicine that is scalable, affordable, and broadly available.
A February 2011 publication, authors from the Office of Public Health Genomics, a part of the US Center for Disease Control, noted that, 'In spite of accelerating human genome discoveries in a wide variety of diseases of public health significance, the promise of personalized health care and disease prevention based on genomics has lagged behind.' (Khoury et al. Am J Prev Med 2011;40(4):486-493)
There are several reasons for this lack of progress. The primary way in which a patient's cancer should be classified is the set of genetic variations that cause cellular malfunction, for it is these variations that determine the therapies to which a patient will respond best. But while research has revealed a tremendous genetic variation of cancer cases (inspiring comparisons between tumors and snowflakes) doctors still lack the means to correlate these variations to therapies. This is because no statistically significant database of patient genomic data exists, denying clinicians a vital opportunity in personalized medicine: standardization of care for a particular gene-driven disease.
Broad application of genomic discoveries in health care has also been impeded by a lack of cross-institution cooperation. Even when data does exist, it is too often stored in specialized and insulated collections, and too many barriers exist to its integration and aggregation for the productive analysis that could match patients to therapies or enable pharmaceutical companies to find actionable targets for drug development. Finally, patients themselves are left with simplified diagnoses, for instance based on tissue type of their disease, that leave them unable to understand their disease, find the best treatment options, or connect with other patients with precisely the same cancer.
By linking genetic factors and drug responses in a vivid and broadly available fashion, the Genetic Care Interchange will revolutionize the efficiency of drug development, the success of cancer treatment, and the health of patients.
SEEKING: Implementing Partners
Seeking partners with bioinformatics expertise to help design and implement structure of database
OFFERING: Best Practice Information
Partners will have the opportunity to engage in a project that will elevate and establish a new standard of care, or best practice, for cancer care.