Implementation Science and Genomic Medicine in Action: A Case Study

Posted on September 18, 2019 on the CDC Office of Public Health Genomics blog by Mindy Clyne, Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, Maryland, and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia

There is an urgent need for researchers and implementers of genomic medicine to incorporate implementation science into their translational research efforts. Implementation science is the study of methods to promote the adoption and integration of evidence-based practices, interventions, and policies into routine healthcare and public health settings to improve our impact on population health.

But how does implementation science work and how do we know whether a given translational research effort will benefit from the adoption of implementation science? An ideal opportunity to understand how a genomic research activity falls into the implementation science realm is to read through the details of an applicable study. Here, we will guide you through the R01 grant entitled ”Implementing Universal Lynch Syndrome Screening across Multiple Healthcare Systems: Identifying Strategies to Facilitate and Maintain Programs in Different Organizational Contexts,” funded through the Dissemination and Implementation Research in Health funding opportunity. The details of the grant have been made available through Dr. Alanna K. Rahm of Geisinger Clinic on the Implementation Science team website as a resource to benefit others. The research will lead to a flexible organizational toolkit to guide implementation efforts of universal Lynch syndrome screening and may also be generalizable to other genomic applications.

To help understand this study through the perspective of implementation science, we will address some particulars using questions based upon two recent publications focused on 1) helping implementation science trainees identify whether their project is amenable to implementation science (see Question 1 below) and 2) utilization of a tool and guidelines for designing IS research, the ImpRes tool, specifying 10 critical IS domains (See Questions 2-10 below).

Question 1: Is the practice under study appropriate for implementation research?

Lynch syndrome screening is the practice under study. We note that the practice has been shown to be efficacious (i.e., improvement of clinical outcomes identified through tightly controlled, ideally randomized conditions), and has shown “real world” effectiveness (i.e., evidence of benefit outside the realm of randomized controlled trials with strict inclusion and exclusion criteria), therefore it is appropriate for Lynch syndrome screening to proceed to studies on implementation research. See BACKGROUND AND SIGNIFICANCE section of the grant’s Research Strategy.

NOTE: In some cases, “real world” effectiveness of a practice might not have been demonstrated, or it was effective in a different setting or population. In these cases, it might be appropriate to perform research using an effectiveness-implementation hybrid design.

Question 2: Does the study incorporate implementation research characteristics, including the identification of barriers and facilitators to implementation and evaluation of implementation success and strategies (note: implementation study designs can vary resulting in different aims and objectives, and can include implementation strategies, outcomes, processes, mechanisms and contextual factors related to implementation)?

Barriers and facilitators related to implementing Lynch syndrome, associations between contextual factors and screening implementation and the relative effectiveness and efficiency of various screening strategies will all be addressed. See SPECIFIC AIM 1.

Question 3: Does the study use implementation theories, frameworks and/or models?

Evaluation of Lynch syndrome screening implementation and toolkit development will be guided by the Consolidated Framework for Implementation Research. See BACKGROUND AND SIGNIFICANCE.

Question 4: Are the contextual factors within the setting(s) explored with respect to factors likely to hinder or facilitate implementation efforts?

The study will conduct an in-depth assessment of contextual factors impacting implementation across multiple healthcare systems representing diversity in geography and patient populations served. See INNOVATION section of the grant’s Research Strategy.

Question 5: Is selection of implementation strategies explicitly mapped with respect to prospectively appraising the context in which implementation is taking place?

This study will collect information on specific implementation strategies employed, both successful and unsuccessful, across multiple healthcare systems, which will then be utilized to create a toolkit for initial implementation as well as maintenance and optimization of Lynch syndrome screening. See SPECIFIC AIMS.

Question 6: Are implementation outcomes using validated measurement instruments described and utilized, in addition to service and patient outcomes?

This study will observe different strategies (protocols) for Lynch syndrome screening implementation, and via modeling will report on sensitivity of the different screening protocols (e.g. with or without reflex testing), average number of cases expected to be identified, total costs for each screening protocol for a defined cohort size (e.g., 500 cases per year), cost-per case-screened, cost per-Lynch syndrome diagnosis, and incremental cost, case identification, and detection of an additional case between protocols. See SPECIFIC AIM 3.

Question 7: Will data be gathered to determine cost for implementation strategies?

See Question 6 above.

Question 8: Is there collaboration among researchers and stakeholders?

Key stakeholders (health plan leadership, pathology, genetics, surgery, oncology and others) from multiple sites within members of the Healthcare Systems Research Network (HCSRN) will be interviewed to identify implementation strategies, organizational structure and resources, organizational decision making, and barriers and facilitators related to implementing Lynch syndrome screening. See Participants section.

Question 9: Are patients and the public involved in the designing of the study?

Newly diagnosed cancer patients and cancer patients who have received a positive Lynch syndrome screening result will be interviewed to provide information for organizational decision-making. See Participants section.

Question 10: Have unintended and unanticipated consequences been taken into consideration?

Not applicable- This research is a case study, and no intervention is being implemented for testing, therefore no unanticipated consequences exist.

The case study provides an example of the intersection of implementation science and genomic translational research. Although it is not testing a specific implementation strategy in comparison to a controlled situation, it is evaluating different ways implementation has taken place in multiple settings and measuring contextual factors that may influence success or failure of implementation. For additional implementation science examples, and other tools and resources, please visit NCI’s Implementation Science website. For researchers interested in submitting a proposal through the DIRH funding announcement, guidance on developing your research agenda, based on the 10 critical implementation science domains, can be found here.

Building implementation science capacity within the genomics community is crucial for the success of genomic medicine. Training in implementation science has grown, with opportunities for online and in person training , from mini-courses up through full degree programs, and focused training within certain disease areas (e.g., TIDIRC-Training Institute for Dissemination and Implementation in Cancer). Nevertheless, no training has focused specifically on genetic counselors, medical geneticists and other genomic stakeholders. We hope to see an increased demand for such training, and greater number of studies at the intersection of implementation science and genomic medicine in the near future.