Applying an Implementation Science Approach to Genomic Medicine: A Workshop
Technological advances in genome sequencing have improved accuracy while, at the same time, decreased the cost of large-scale sequencing. Genomic data is being used more commonly in clinical practice for disease prevention, diagnosis, and to identify and monitor treatments for patients. Despite the progress in associating gene variations with diseases, there remains limited evidence for the majority of these associations and their use in clinical decision-making. Additionally, sequencing is being introduced in a fragmented way and at mostly large academic health centers. One risk of this approach is that it may introduce unintended disparities in the adoption of and access to genomic-enabled health care if genomic medicine is not integrated across diverse populations and both community hospitals and larger medical centers.
Because genomic medicine implementation is in its early stages, there is an opportunity to use knowledge from other efforts to inform best practices and potentially reduce disparities. The emerging field of implementation science focuses on examining methods that influence system-wide changes to routine care when new evidence-based practices are adopted. Principles from this field and examples from the incorporation of other technologies may be considered for overcoming institutional, provider, and patient related challenges in genomics, especially in the context of conducting large-scale sequencing studies.
On November 19, 2015, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop to examine how implementation science can be applied to genomics by using existing implementation efforts to demonstrate how challenges and successes are measured, assessed, and addressed over time. The workshop goal was to evaluate the challenges, opportunities, and best practices for integrating genomic medicine into the health care system in a way that addresses the needs of institutions, providers, and patients. Additionally, case studies where implementation in clinical care has had varying degrees of success were explored as well as how evidence was generated in these instances. Effective strategies in population health and infrastructure that facilitates implementation were addressed and participants discussed how these could be applied to advance the future of genomic medicine. Stakeholder groups including health care system leadership, clinical providers, patients, and implementation science and disparities experts presented their perspectives and participated in discussions during the workshop.