Clinical Genomic Sequence Data Sharing for Precision Medicine: A Scoping Review of Technologies, Standards, Challenges, and Future Directions

Abstract

One of the difficulties of the widespread application of genomic medicine is the sharing of patient genomic data quickly and securely with other health care systems. This review explores current methods, technologies and governance structures for the sharing of genomic data, as well as national genome initiatives and the genomics industry to offer a broad overview. The aim is to determine the existing practice, to discuss important technical and regulatory issues and to present practical suggestions that can facilitate future development. The review is carried out using the methodology for scoping reviews developed by Arksey and O'Malley, and information from peer-reviewed literature, gray literature, national genomics programs and industry reports. Four research questions were posed: How does the sharing of genomic data occur in clinical practice, in research settings, in national genomic programs and in commercial genomics companies? 37 relevant studies were identified and analyzed, and seven key components for effective genomic data-sharing systems were identified. These studies included clinical implementation models, research models, as well as considering ethical, legal or policy issues. Given the results, there are several technologies and frameworks to share clinical genomic data, however, there is not as wide-spread a large scale implementation as desired. Scalable infrastructures, inequities in clinical/academic genomic systems and different degrees of genomic medicine uptake in health services are key challenges. The review proposes four recommendations for future directions to improve the consistency, security and interoperability of data sharing from the genome and to promote greater uptake of the use of the clinical genome and innovation in precision medicine.