Implementing and Evaluating Genomic Screening Programs in Health Care Systems Proceedings of a Workshop (2018) / Chapter Skim
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4 Exploring Approaches to Optimize Data Sharing Among Early Implementers of Genomics-Based Programs
4 Exploring Approaches to Optimize Data Sharing Among Early Implementers of Genomics-Based Programs
Pages 53-70
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From page 53... ...
(Boerwinkle) • When evaluating the clinical utility of a genomics-based trial or program, it is important to evaluate common functional geno types that are pertinent to the specific patient population(s)
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Lori Orlando, an associate professor of medicine at Duke University School of Medicine, discussed the importance of applying implementation science when launching genomics-based programs, including defining and developing measures for genomic medicine implementation studies.
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The goal of the eMERGE network is to combine DNA repositories with EHR systems for large-scale, high-throughput genetic research that supports the implementation of genomic medicine. Peterson is the principal investigator of the coordinating center at Vanderbilt University, Chisholm said, and what has been done across the sites in the eMERGE network is a microcosm of what will need to be done in rolling out genomic medicine across the country.
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From page 56... ...
By using common data models and common standards, eMERGE has been able to facilitate data sharing. eMERGE participants are now working to convert all of the data to the Observational Medical Outcomes Partnership (OMOP)
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If the Texas Medical Center were to incorporate, he said, it would be the eighth largest economic zone in the country. As such, it is an ideal test bed for sharing data across health care systems.
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The ability to scale the sharing of genomic information is essential for genomics to become integrated into the routine health care setting. Developing semi-automated clinical reporting platforms and machine-learning algorithms to help with establishing the clinical validity of variants and matching variant characteristics to phenotypic characteristics may be one useful approach.
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From page 59... ...
The centerpiece of the project, Turner said, is a 3-year pharmacogenomic implementation study occurring at one or more sites in seven EU countries, including the Royal Liverpool Hospital in the United Kingdom. The study will evaluate implementation metrics, patient outcomes, and cost effectiveness.
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Turner described a number of operational factors involved in getting the study up and running. In obtaining ethical approvals, the Netherlands and the United Kingdom were instrumental in first going to their organizing regulatory bodies to demonstrate that this is an implementation study and not a randomized controlled trial.
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. The more recent GIFT trial, which Turner noted was powered for clinical endpoints, found the genotype strategy to have a statistically significant reduction in the primary clinical composite endpoint versus standard dosing (Gage et al., 2017)
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100,000 Genomes Project The last implementation initiative Turner described was the U.K.-wide 100,000 Genomes Project, which is conducting whole-genome sequencing of approximately 75,000 individuals to obtain 100,000 genomes: 75,000 germline genomes and 25,000 somatic genomes.6 Participants are being recruited through 13 genomic medicine centers throughout the United Kingdom, which are hubs for a total of more than 80 different health care trusts. The genomic information is being entered into a data storage center and is being supplemented with clinical information from both the hospital and the primary care environment, when available.
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IDEAL MEASURES FOR GENOMIC MEDICINE IMPLEMENTATION STUDIES Understanding implementation is critical for moving genomics from research into clinical care, Orlando said. Genomics researchers generally have a project and corresponding funding, and they figure out how make the project work, handling challenges as they come along.
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The goal is to create shared knowledge about the implementation experience and to facilitate knowledge transfer to others interested in implementing genomic interventions in their own health care settings. The research sites in the IGNITE network have agreed to use an implementation science–based approach to their studies, and the Consolidated Framework for Implementation Research (CFIR)
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The IGNITE network is a test bed for implementation research. A draft genomic medicine implementation research model is available, Orlando said, adding that her group is looking for opportunities to refine it.
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A key question for genomic medicine implementation is how best to get the data out of the EHR, Chisholm continued. He acknowledged that most genomics researchers do not use the EHR, instead working with some sort of data extraction or data mining approach that captures the EHR data and reconfigures it to be more amenable to searching.
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From page 67... ...
. Implementation science frameworks may represent an opportunity to design genomics-based screening programs in health care systems in such a way that proper data can be obtained that would indicate if the routine use of genomics in clinical practice is appropriate (NASEM, 2016)
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A traditional implementation science approach may not be working for genomic medicine, and it is not clear why, Boerwinkle said. There is a need to step back and ask why integrating genomics into routine health care is not happening, despite successful implementation science studies.
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Some individuals have suggested that payers should cover testing only for those who are willing to have their data entered into ClinVar, so that it can be evaluated, Chisholm said, which would have huge impact on data quality from the laboratories. In his experience as founder of a genetic testing laboratory and as a former chair of the American Clinical Lab Association, Grodman said, most clinical laboratories operate under the strict standards of the Clinical Laboratory Improvement Amendments and the College of American Pathologists, as well as stringent state requirements.
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From page 70... ...
Because the funding situation is different in the United Kingdom, Turner said, data sharing is being driven by the pursuit of clinical utility and cost effectiveness. Evidence of cost effectiveness (not just in the United Kingdom, but worldwide)
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