Genomics-Enabled Learning Health Care Systems: Gathering and Using Genomic Information to Improve Patient Care and Research - A Workshop
The sequencing of the human genome has facilitated a tremendous increase in our understanding of disease. Health care practitioners now have the ability to determine in which patient a drug will be most effective or where a patient may forgo therapy due to lack of clinical benefit. This greater understanding, combined with the technological advances that have significantly improved genome sequencing accuracy while decreasing its cost from $2.7 billion to $5,000, has led to large-scale sequencing now being used in clinical practice to aid in diagnosis and to identify treatment options for patients. As a direct effect of this integration into practice, discussions about how to maximize the benefits of this large amount of data are beginning to occur.
With the significant promise that combining genomic and other health data holds to derive new knowledge about disease biology, treatment efficacy, outcomes, and drug safety, there are still several challenges to using these data to their full potential. The EHR, for example, could be used as a valuable tool to store and access clinical genomic information, as could other data sources like self-reported databases and social media. However, the current health care system is largely unprepared to handle this large-scale information. There is a lack of standards for the data, and interoperability, scalability, privacy, security, and storage issues need to be resolved. While individual efforts may exist to collect and use these data, a more coordinated effort that engages the broader stakeholder population will be needed in order to improve patient health and maximize the knowledge that would be obtained from integrating genomic information.
On December 8, 2014, the Institute of Medicine’s Roundtable on Translating Genomic-Based Research for Health hosted a workshop to examine how a variety of systems are capturing and making use of genomic data to generate knowledge that can be used to advance patient care and research. The workshop goal was to evaluate the challenges, opportunities, and best practices for knowledge-generating health care systems and to understand how genomic information can be integrated into and enable this knowledge generation. Stakeholder groups including commercial developers and health information technology professionals, clinical providers, academic researchers, patient groups, and government and health system representatives presented their perspectives and participated in discussions during the workshop.