Genomic Data Integration Requires Education, Security Standards

Genomic data integration at the point of care will require education around implementation and decision-making, as well as industry-wide privacy and security standards, according to an ONC report.

The report details the findings from phase 2 of the Sync for Genes project, a joint effort between ONC and NIH’s All of Us Research Program. Launched in 2017, the Sync for Genes project aims to pilot-test and demonstrate how genomic data can be used at the point of care and for research.

Sync for Genes is a companion to Sync for Science, a project to develop a simple way for people to share their health data with researchers. Both projects use the HL7 FHIR specification as the foundation for data exchange.

“To be available at the point-of-care, genomic data must be represented consistently so that health IT, such as EHR systems, can easily incorporate those data in a consistent way,” ONC stated in the report.

“Similar to other health data, genomic data must also be shareable to facilitate a patient’s relationship with his or her team of providers, genetic counselors, and loved ones. Shareable data supports patients in making informed healthcare decisions and decisions about when and how to share this sensitive and information-rich data with researchers.”

Phase 1 of Sync for Genes established a prototype project approach and led to new demonstrations of genomic data sharing. In phase 2, four organizations explored practical data transfer between genomic laboratories, healthcare providers, researchers, and patients. The project uncovered several significant issues the industry has to overcome before organizations can integrate genomic data at the point of care.

“Healthcare organizations often face challenges in integrating silos of health information to provide coordinated, comprehensive care. Integrating genomic data has proven to be no different,” ONC said.

“In addition to the gaps the pilot projects uncovered as they put the technology into practice for the exchange and integration of genomic data, there are larger challenges that will need to be addressed by a broader group of stakeholders interested in the use of genomics for healthcare delivery and research.”

In order to ensure the successful integration of genomic data, providers need education and training to help communicate the value of genomic test results to patients. Patients will also need support to understand results and their implications.

“Supporting the development of the patient-provider relationship with educational training for providers and patient access to resources will help them work together to make the informed decisions that best fit with the patient’s interest and well-being. This is also a critical step to fully integrating genomics into the care continuum,” ONC noted.

In addition to education and support, the industry will need to adopt legislation and policies intended to protect patient privacy. Because a patient’s genomic profile is a more comprehensive identifier than fingerprints, a social security number, or other unique identifiers, healthcare leaders will have to determine who can see this data, for what purpose, and how to manage the data.

“Currently, the greater community has not determined whether or how data regarding protected class illnesses such as schizophrenia—which could potentially be inferred based on genomics —could be segmented, or if it should be altogether removed from a genomic profile,” ONC said.

“Although there are standards available to address the technical aspects of privacy, there is no industry agreement with respect to how those standards should be applied to the policy and ethical challenges that are unique to the science of genomics.”

The FHIR Clinical Genomics specification should ensure the specification provides the necessary security to exchange data with more points of user identification than what clinical information systems currently support.

Security standards will play a key role in genomic data integration as well, ONC said.

“It is important to validate that appropriate access controls exist for the sharing of genomic data, whether genomic data are stored ‘in house,’ in external, or in third-party systems that can be accessed by one or many other clinical or research systems,” ONC said.

Phase 2 of Sync for Genes has brought the industry one step closer to achieving seamless genomic data integration and exchange, ONC said. Phase 3 of the project will focus on standardizing genomic data generated by laboratories. This work will lay the foundation to advance connectivity between laboratories and other data exchange partners.

“Phase 2 successfully curated time and activities that supported the participating organizations’ ability to work on their pilot projects. These organizations found valuable resources in each other for problem solving and discussing project-related issues as well as issues related to the genomic industry in general,” ONC concluded.

“Each pilot site was successful in demonstrating the exchange of genomic data and developing their proof of concepts that demonstrate the potential use of genomic data for the provision of care and eventually for research. These types of demonstrations help develop health IT that can support the goals of the Precision Medicine Initiative and 21st Century Cures Act.”