A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.

Introduction: DNA-based population screening has been proposed as a public health solution to identify individuals at risk for serious health conditions who otherwise may not present for medical care. The clinical utility and public health impact of DNA-based population screening is a subject of active investigation. Geisinger, an integrated healthcare delivery system, was one of the first healthcare systems to implement DNA screening programs (MyCode Community Health Initiative (MyCode) and clinical DNA screening pilot) that leverage exome data to identify individuals at risk for developing conditions with potential clinical actionability. Here, we demonstrate the use of an implementation science framework, RE-AIM (Reach, Effectiveness, Adoption, Implementation and Maintenance), to conduct a post-hoc evaluation and report outcomes from these two programs to inform the potential impact of DNA-based population screening. Methods: Reach and Effectiveness outcomes were determined from the MyCode research program, while Adoption and Implementation outcomes were measured using the clinical DNA screening pilot. Reach was defined as the number of patients who were offered and consented to participate in MyCode. Effectiveness of DNA screening was measured by reviewing MyCode program publications and synthesizing findings from themes. Adoption was measured by the total number of DNA screening tests ordered by clinicians at the clinical pilot sites. Implementation was assessed by interviewing a subset of clinical pilot clinicians about the deployment of and recommended adaptations to the pilot that could inform future program dissemination. Results: Reach: As of August 2020, 68% (215,078/316,612) of individuals approached to participate in the MyCode program consented. Effectiveness: Published evidence reported from MyCode demonstrates that DNA screening identifies at-risk individuals more comprehensively than clinical ascertainment based on phenotypes or personal/family history. Adoption: From July 2018 to June 2021, a total of 1,026 clinical DNA screening tests were ordered by 60 clinicians across the three pilot clinic sites. Implementation: Interviews with 14 clinicians practicing at the pilot clinic sites revealed motivation to provide patients with DNA screening results and yielded future implementation strategies. Conclusion: The RE-AIM framework offers a pragmatic solution to organize, analyze, and report outcomes across differently resourced and designed precision health programs that include genomic sequencing and return of clinically actionable genomic information.

The NUDGE trial pragmatic trial to enhance cardiovascular medication adherence: study protocol for a randomized controlled trial.

BACKGROUND: Nearly half of patients do not take their cardiovascular medications as prescribed, resulting in increased morbidity, mortality, and healthcare costs. Mobile and digital technologies for health promotion and disease self-management offer an opportunity to adapt behavioral "nudges" using ubiquitous mobile phone technology to facilitate medication adherence. The Nudge pragmatic clinical trial uses population-level pharmacy data to deliver nudges via mobile phone text messaging and an artificial intelligent interactive chat bot with the goal of improving medication adherence and patient outcomes in three integrated healthcare delivery systems. METHODS: The Theory of mHealth, the Expanded RE-AIM/PRISM, and the PRECIS-2 frameworks were used for program planning, implementation, and evaluation, along with a focus on dissemination and cost considerations. During the planning phase, the Nudge study team developed and piloted a technology-based nudge message and chat bot of optimized interactive content libraries for a range of diverse patients. Inclusion criteria are very broad and include patients in one of three diverse health systems who take medications to treat hypertension, atrial fibrillation, coronary artery disease, diabetes, or hyperlipidemia. A target of approximately 10,000 participants will be randomized to one of 4 study arms: usual care (no intervention), generic nudge (text reminder), optimized nudge, and optimized nudge plus interactive AI chat bot. The PRECIS-2 tool indicated that the study protocol is very pragmatic, although there is variability across PRECIS-2 dimensions. DISCUSSION: The primary effectiveness outcome is medication adherence defined by the proportion of days covered (PDC) using pharmacy refill data. Implementation outcomes are assessed using the RE-AIM framework, with a particular focus on reach, consistency of implementation, adaptations, cost, and maintenance/sustainability. The project has limitations including limited power to detect some subgroup effects, medication complications (bleeding), and longer-term outcomes (myocardial infarction). Strengths of the study include the diverse healthcare systems, a feasible and generalizable intervention, transparent reporting using established pragmatic research and implementation science frameworks, strong stakeholder engagement, and planning for dissemination and sustainment. TRIAL REGISTRATION: ClinicalTrials.gov NCT03973931 . Registered on 4 June 2019. The study was funded by the NIH; grant number is 4UH3HL144163-02 issued 4/5/19.

Automated telephone calls to enhance colorectal cancer screening: economic analysis.

OBJECTIVES: To estimate the cost-effectiveness of an automated telephone intervention for colorectal cancer screening from a managed care perspective, using data from a pragmatic randomized controlled trial. METHODS: Intervention patients received calls for fecal occult blood testing (FOBT) screening. We searched patients' electronic medical records for any screening (defined as FOBT, flexible sigmoidoscopy, double-contrast barium enema, or colonoscopy) during follow-up. Intervention costs included project implementation and management, telephone calls, patient identification, and tracking. Screening costs included FOBT (kits, mailing, and processing) and any completed screening tests during follow-up. We estimated the incremental cost-effectiveness ratio (ICER) of the cost per additional screen. RESULTS: At 6 months, average costs for intervention and control patients were $37 (25% screened) and $34 (19% screened), respectively. The ICER at 6 months was $42 per additional screen, less than half what other studies have reported. Cost-effectiveness probability was 0.49, 0.84, and 0.99 for willingness-to-pay thresholds of $40, $100, and $200, respectively. Similar results were seen at 9 months. A greater increase in FOBT testing was seen for patients aged >70 years (45/100 intervention, 33/100 control) compared with younger patients (25/100 intervention, 21/100 control). The intervention was dominant for patients aged >70 years and was $73 per additional screen for younger patients. It increased screening rates by about 6% and costs by $3 per patient. CONCLUSIONS: At willingness to pay of $100 or more per additional screening test, an automated telephone reminder intervention can be an optimal use of resources.

State-of-the-art and future directions in multilevel interventions across the cancer control continuum.

We conducted literature searches and analyses to describe the current state of multilevel intervention (MLI) research and to identify opportunities to advance cancer control and prevention. We found single-level studies that considered other contextually important levels, and multilevel health-care systems research and community-wide studies. This literature is characterized by limited reporting of theoretical, contextual, temporal, and implementation factors. Most MLIs focus on prevention and screening, rather than diagnosis, treatment, or survivorship. Opportunities relate to 1) dynamic, adaptive emergent interventions and research designs that evolve over time by attending to contextual factors and interactions across levels; 2) analyses that include simulation modeling, or multimethod approaches that integrate quantitative and qualitative methods; and 3) translation and intervention approaches that locally reinvent MLIs in different contexts. MLIs have great potential to reduce cancer burden by using theory and integrating quantitative, qualitative, participatory, and transdisciplinary methods that continually seek alignment across intervention levels, pay attention to context, and adapt over time.

Multilevel research and the challenges of implementing genomic medicine.

Advances in genomics and related fields promise a new era of personalized medicine in the cancer care continuum. Nevertheless, there are fundamental challenges in integrating genomic medicine into cancer practice. We explore how multilevel research can contribute to implementation of genomic medicine. We first review the rapidly developing scientific discoveries in this field and the paucity of current applications that are ready for implementation in clinical and public health programs. We then define a multidisciplinary translational research agenda for successful integration of genomic medicine into policy and practice and consider challenges for successful implementation. We illustrate the agenda using the example of Lynch syndrome testing in newly diagnosed cases of colorectal cancer and cascade testing in relatives. We synthesize existing information in a framework for future multilevel research for integrating genomic medicine into the cancer care continuum.

An evidence integration triangle for aligning science with policy and practice.

Over-reliance on decontextualized, standardized implementation of efficacy evidence has contributed to slow integration of evidence-based interventions into health policy and practice. This article describes an "evidence integration triangle" (EIT) to guide translation, implementation, prevention efforts, comparative effectiveness research, funding, and policymaking. The EIT emphasizes interactions among three related components needed for effective evidence implementation: (1) practical evidence-based interventions; (2) pragmatic, longitudinal measures of progress; and (3) participatory implementation processes. At the center of the EIT is active engagement of key stakeholders and scientific evidence and attention to the context in which a program is implemented. The EIT model is a straightforward framework to guide practice, research, and policy toward greater effectiveness and is designed to be applicable across multiple levels-from individual-focused and patient-provider interventions, to health systems and policy-level change initiatives.

A population approach to precision medicine.

The term P4 medicine is used to denote an evolving field of medicine that uses systems biology approaches and information technologies to enhance wellness rather than just treat disease. Its four components include predictive, preventive, personalized, and participatory medicine. In the current paper, it is argued that in order to fulfill the promise of P4 medicine, a "fifth P" must be integrated-the population perspective-into each of the other four components. A population perspective integrates predictive medicine into the ecologic model of health; applies principles of population screening to preventive medicine; uses evidence-based practice to personalize medicine; and grounds participatory medicine on the three core functions of public health: assessment, policy development, and assurance. Population sciences-including epidemiology; behavioral, social, and communication sciences; and health economics, implementation science, and outcomes research-are needed to show the value of P4 medicine. Balanced strategies that implement both population- and individual-level interventions can best maximize health benefits, minimize harm, and avoid unnecessary healthcare costs.

Social support and social-ecological resources as mediators of lifestyle intervention effects for type 2 diabetes.

A study was conducted to determine if an intervention could change social support and social-ecological resources of post-menopausal women diagnosed with type 2 diabetes, and if those changes mediated the intervention's effects on health behaviors and outcomes. Women (N = 279) were randomly assigned to receive a comprehensive 6-month Mediterranean Lifestyle Program (MLP) or usual care from their physicians (UC). MLP was successful in changing social embeddedness and social-ecological resources, but not a measure of perceived support. Changes in social-ecological resources mediated intervention effects on fat consumption, exercise and glycemic control. The experimental manipulation of mediators and the demonstrated mediation effects support the conclusion that social-ecological resources can contribute to improvements in healthful lifestyles for women with type 2 diabetes.

RE-AIMing research for application: ways to improve evidence for family medicine.

OBJECTIVE: To outline changes in clinical research design and measurement that should enhance the relevance of research to family medicine. METHODS: Review of the traditional efficacy research paradigm and discussion of why this needs to be expanded. Presentation of practical clinical and behavioral trials frameworks, and of the RE-AIM model for planning, evaluating, and reporting studies. RESULTS: Recommended changes to improve the external validity and relevance of research to family medicine include studying multiple clinical practices, realistic alternative program choices, heterogeneous and representative patients, and multiple outcomes including cost, behavior change of patients and staff, generalization, and quality of life. CONCLUSIONS: The methods and procedures discussed can help program planners, evaluators and readers of research articles to evaluate the replicability, consistency of effects, and likelihood of widespread adoption of interventions.

Putting it together: finding success in behavior change through integration of services.

PURPOSE: The purpose of this analysis and commentary was to explore the rationale for an integrated approach, within and outside the office, to help patients pursue healthy behaviors. METHODS: We examined the role of integration, building on (1) patterns observed in a limited qualitative evaluation of 17 Prescription for Health projects, (2) several national policy initiatives, and (3) selected research literature on behavior change. RESULTS: The interventions evaluated in Prescription for Health not only identified unhealthy behaviors and advised change, but also enabled patients to access information at home, use self-help methods, obtain intensive counseling, and receive follow-up. Few practices can replicate such a model with the limited staff and resources available in their offices. Comprehensive assistance can be offered to patients, however, by integrating what is feasible in the office with additional services available through the community and information media. CONCLUSIONS: Blending diverse clinical and community services into a cohesive system requires an infrastructure that fosters integration. Such a system provides the comprehensive model on which the quality of both health promotion and chronic illness care depend. Integrating clinical and community services is only the first step toward the ideal of a citizen-centered approach, in which diverse sectors within the community-health care among them-work together to help citizens sustain healthy behaviors. The integration required to fulfill this ideal faces logistical challenges but may be the best way for a fragmented health care system to fully serve its patients.

Development and validation of the Patient Assessment of Chronic Illness Care (PACIC).

RATIONALE: There is a need for a brief, validated patient self-report instrument to assess the extent to which patients with chronic illness receive care that aligns with the Chronic Care Model-measuring care that is patient-centered, proactive, planned and includes collaborative goal setting; problem-solving and follow-up support. SAMPLE: A total of 283 adults reporting one or more chronic illness from a large integrated health care delivery system were studied. METHODS: Participants completed the 20-item Patient Assessment of Chronic Illness Care (PACIC) as well as measures of demographic factors, a patient activation scale, and subscales from a primary care assessment instrument so that we could evaluate measurement performance, construct, and concurrent validity of the PACIC. RESULTS: The PACIC consists of 5 scales and an overall summary score, each having good internal consistency for brief scales. As predicted, the PACIC was only slightly correlated with age and gender, and unrelated to education. Contrary to prediction, it was only slightly correlated (r = 0.13) with number of chronic conditions. The PACIC demonstrated moderate test-retest reliability (r = 0.58 during the course of 3 months) and was correlated moderately, as predicted (r = 0.32-0.60, median = 0.50, P < 0.001) to measures of primary care and patient activation. DISCUSSION: The PACIC appears to be a practical instrument that is reliable and has face, construct, and concurrent validity. The resulting questionnaire is in the public domain, and recommendations for its use in research and quality improvement are outlined.

Implementing practical interventions to support chronic illness self-management.

BACKGROUND: Self-management support (SMS) is the area of disease management least often implemented and most challenging to integrate into usual care. This article outlines a model of SMS applicable across different chronic illnesses and health care systems, presents recommendations for assisting health care professionals and practice teams to make changes, and provides tips and lessons learned. Strategies can be applied across a wide range of conditions and settings by health educators, care managers, quality improvement specialists, researchers, program evaluators, and clinician leaders. Successful SMS programs involve changes at multiple levels: patient-clinician interactions; office environment changes; and health system, policy, and environmental supports. PATIENT-CLINICIAN INTERACTION LEVEL: Self-management by patients is not optional but inevitable because clinicians are present for only a fraction of the patient's life, and nearly all outcomes are mediated through patient behavior. Clinicians who believe they are in control or responsible for a patient's well-being are less able to adopt an approach that acknowledges the central role of the patient in his or her care. SUMMARY AND CONCLUSIONS: Self-management should be an integral part of primary care, an ongoing iterative process, and patient centered; use collaborative goal setting and decision making; and include problem solving, outreach, and systematic follow-up.

Self-management aspects of the improving chronic illness care breakthrough series: implementation with diabetes and heart failure teams.

Self-management is an essential but frequently neglected component of chronic illness management that is challenging to implement. Available effectiveness data regarding self-management interventions tend to be from stand-alone programs rather than from efforts to integrate self-management into routine medical care. This article describes efforts to integrate self-management support into broader health care systems change to improve the quality of patient care in the Chronic Illness Care Breakthrough Series. We describe the general approach to system change (the Chronic Care Model) and the more specific self-management training model used. The process used in training organizations in self-management is discussed, and data are presented on teams from 21 health care systems participating in a 13-month-long Breakthrough Series to address diabetes and heart failure care. Available system-level data suggest that teams from a variety of health care organizations made improvements in support provided for self-management. Improvements were found for both diabetes and heart failure teams, suggesting that this improvement process may be broadly applicable. Lessons learned, keys to success, and directions for future research and practice are discussed.