Our vision for genomic and health-related data sharing in 2022.
In 2022, GA4GH standards enable broad access to genomic and health related data on tens of millions of individuals. Tools based on these standards create the platform upon which federated data sites—including research, healthcare, and commercial organizations as well as individuals—use, analyse, and store the data needed to drive precision medicine. The vast majority of these data come from health care rather than research and they span individuals of many national and ethnic origins. Harmonized data governance architectures allow for wide spheres of responsible data access, allowing researchers to perform analysis on virtual cohorts of populations or using virtual analytical tools without data movement.
Genomics data that can be shared responsibly are shared responsibly. This means every qualified clinician, researcher, and corporate entity worldwide shares and accesses federated databases according to responsible consent and privacy governance policies. GA4GH APIs and tools are compatible with a variety of consent schema, including individual dynamic consent and broad consent models. Access permissions depend on the type and sensitivity of data requested, as well as researcher credentials. Electronic negotiation and monitoring of data access requests take place on a network of trust that is internet enabled, secure, and robust, usually allowing fully electronic access. An international Code of Conduct for Health-Related Data provides assurance that data sharing is proportionately protective, legally compliant, and addresses technical standards for identifiability, consent, privacy and security safeguards, research oversight, and sanctions for misuse.
Clinical records include genomic and phenotypic data to support a ‘learning health system.’ The complementarity of GA4GH standards and electronic health record (EHR) schemes, such as HL7 Frameworks, allow for secure storage and optimal use of patient/participant data. The community uses GA4GH standards to translate research findings into clinical application. Interoperability of health information facilitates real-world evidence generation and continuous learning among diverse healthcare stakeholders. Clinicians capture and transmit genotypic and phenotypic health data in standardized ways that are useful for research and clinical applications alike. In addition, health economic data demonstrate cost-effectiveness, diagnostic utility, and improvement in patient outcomes and public health.
GA4GH collaborates and coordinates with the many other global, regional, and national activities within the genomics and health ecosystem. GA4GH staffs new projects dynamically, bringing in experts from the appropriate disciplines. Research productivity as a result of concerted data sharing is demonstrated in the volume of published work citing GA4GH standards. In addition to contributing to new research findings, publication of common GA4GH standards and APIs enables improved understanding of the molecular basis of human health and fundamental biology.