The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health

Abstract

The clinical use of genomic analysis has expanded rapidly resulting in an increased availability and utility of genomic information in clinical care. We have developed an infrastructure utilizing informatics tools and clinical processes to facilitate the use of whole genome sequencing data for population health management across the healthcare system. Our resulting framework scaled well to multiple clinical domains in both pediatric and adult care, although there were domain specific challenges that arose. Our infrastructure was complementary to existing clinical processes and well-received by care providers and patients. Informatics solutions were critical to the successful deployment and scaling of this program. Implementation of genomics at the scale of population health utilizes complicated technologies and processes that for many health systems are not supported by current information systems or in existing clinical workflows. To scale such a system requires a substantial clinical framework backed by informatics tools to facilitate the flow and management of data. Our work represents an early model that has been successful in scaling to 29 different genes with associated genetic conditions in four clinical domains. Work is ongoing to optimize informatics tools; and to identify best practices for translation to smaller healthcare systems.

“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England

“…Effective integration of genomic medicine into a complex healthcare system such as the NHS requires system- and organizational-wide change. These include, amongst other aspects, the development of healthcare and electronic systems to manage data and workflows, technical and bioinformatics infrastructure to process, sequence and analyze samples, and sufficient workforce capacity and capability to counsel, request, interpret and communicate results to patients and families ( Pearce et al, 2019 ; Raspa et al, 2021 ; Walton et al, 2022 ). Mainstreaming of genomics will also require upskilling of non-genetic specialists so that they too can counsel, request and communicate genomic results to patients ( Barwell et al, 2019 ), as well as cross-discipline discussions-for example, through multidisciplinary team (MDT) clinics ( Best et al, 2021b ) and MDT case discussion meetings.…”

Challenges and solutions to system-wide use of precision oncology as the standard of care paradigm

“…Advanced cancer genome-wide sequencing has discovered that each individual cancer evolves to become unique and complex, such that better outcomes are achieved when treatments are personalised to each individual cancer rather than delivered empirically (Walton et al, 2022 ; Hofmarcher et al, 2023b ; Horgan et al, 2023 ; Tan et al, 2023 ). This level of functional complexity in cancer means that simple stratification at the standard of care level must be converted to the true and rare subtype personalisation requiring integrated solutions across regional and national populations.…”

Personalized Health and Precision Medicine in Practice

“…At both Geisinger and IH, hundreds of thousands of patients have available sequencing data, creating a daily struggle to push actionable data into the clinical space across a large healthcare system. To do so efficiently and at scale requires workflows, policies, and technical architectures that are foreign to most healthcare systems (Walton et al, 2022). Many historical processes and regulatory barriers currently impede the ability to realize the ultimate vision of precision medicine (Klein, 2020;Walton et al, 2020Walton et al, , 2021Abdelhalim et al, 2022;Schaibley et al, 2022;Stenzinger et al, 2022).…”