Economic Evaluation of Universal Lynch Syndrome Screening Protocols among Newly Diagnosed Patients with Colorectal Cancer.

We conducted an updated economic evaluation, from a healthcare system perspective, to compare the relative effectiveness and efficiency of eight Lynch syndrome (LS) screening protocols among newly diagnosed colorectal cancer (CRC) patients. We developed decision analytic models for a hypothetical cohort of 1000 patients. Model assumptions and parameter values were based on literature and expert opinion. All costs were in 2018 USD. For identifying LS cases, the direct germline sequencing (DGS) protocol provided the best performance (sensitivity 99.90%, 99.57-99.93%; specificity 99.50%, 97.28-99.85%), followed by the tumor sequencing to germline sequencing (TSGS) protocol (sensitivity, 99.42%, 96.55-99.63%; specificity, 96.58%, 96.46-96.60%). The immunohistochemistry (IHC) protocol was most efficient at $20,082 per LS case identified, compared to microsatellite instability (MSI) ($22,988), DGS ($31,365), and TSGS ($104,394) protocols. Adding double-somatic testing to IHC and MSI protocols did not change sensitivity and specificity, increased costs by 6% and 3.5%, respectively, but reduced unexplained cases by 70% and 50%, respectively. DGS would be as efficient as the IHC protocol when the cost of germline sequencing declines under $368 indicating DGS could be an efficient option in the near future. Until then, IHC and MSI protocols with double-somatic testing would be the optimal choices.

D-CARE: The Dementia Care Study: Design of a Pragmatic Trial of the Effectiveness and Cost Effectiveness of Health System-Based Versus Community-Based Dementia Care Versus Usual Dementia Care.

BACKGROUND/OBJECTIVES: Although several approaches have been developed to provide comprehensive care for persons living with dementia (PWD) and their family or friend caregivers, the relative effectiveness and cost effectiveness of community-based dementia care (CBDC) versus health system-based dementia care (CBDC) and the effectiveness of both approaches compared with usual care (UC) are unknown. DESIGN: Pragmatic randomized three-arm superiority trial. The unit of randomization is the PWD/caregiver dyad. SETTING: Four clinical trial sites (CTSs) based in academic and clinical health systems. PARTICIPANTS: A total of 2,150 English- or Spanish-speaking PWD who are not receiving hospice or residing in a nursing home and their caregivers. INTERVENTIONS: Eighteen months of (1) HSDC provided by a nurse practitioner or physician's assistant dementia care specialist who works within the health system, or (2) CBDC provided by a social worker or nurse care consultant who works at a community-based organization, or (3) UC with as needed referral to the Alzheimer's Association Helpline. MEASUREMENTS: Primary outcomes: PWD behavioral symptoms and caregiver distress as measured by the Neuropsychiatric Inventory Questionnaire (NPI-Q) Severity and Modified Caregiver Strain Index scales. SECONDARY OUTCOMES: NPI-Q Distress, caregiver unmet needs and confidence, and caregiver depressive symptoms. Tertiary outcomes: PWD long-term nursing home placement rates, caregiver-reported PWD functional status, cognition, goal attainment, "time spent at home," Dementia Burden Scale-Caregiver, a composite measure of clinical benefit, Quality of Life of persons with dementia, Positive Aspects of Caregiving, and cost effectiveness using intervention costs and Medicare claims. RESULTS: The results will be reported in the spring of 2024. CONCLUSION: D-CARE will address whether emphasis on clinical support and tighter integration with other medical services has greater benefit than emphasis on social support that is tied more closely to community resources. It will also assess the effectiveness of both interventions compared with UC and will evaluate the cost effectiveness of each intervention.

Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic.

PURPOSE: Cancer genetics clinics have seen increasing demand, challenging genetic counselors (GCs) to increase efficiency and prompting some clinics to implement genetic counseling assistants (GCAs). To evaluate the impact of GCAs on Geisinger's cancer genetics clinic, we tracked GC time utilization, new patient volume, and clinic cost per patient before and after implementing a GCA program. METHODS: GCs used time-tracking software while completing preappointment activities. Electronic health records were reviewed for appointment length and number of patients per week. Internal salary data for GCs and GCAs were used to calculate clinic costs per patient. RESULTS: Time spent by GCs completing each preappointment activity (21.8 vs. 15.1 minutes) and appointment length (51.6 vs. 44.5 minutes) significantly decreased after GCA program implementation (p values < 0.001). New patients per week per GC significantly increased (7.9 vs. 11.4, p < 0.001). Weekly clinic cost per patient significantly decreased ($233 vs. $176, p = 0.03). CONCLUSION: Implementing a GCA program increased GC efficiency in preappointment activities and clinic appointments, increased patient volume, and decreased clinic cost per patient. Such a program can improve access to GC services and assist GCs in focusing on the direct patient care for which they are specially trained.

Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program.

Population genomic screening has been demonstrated to detect at-risk individuals who would not be clinically identified otherwise. However, there are concerns about the increased utilization of unnecessary services and the associated increase in costs. The objectives of this study are twofold: (1) determine whether there is a difference in healthcare utilization and costs following disclosure of a pathogenic/likely pathogenic (P/LP) BRCA1/2 variant via a genomic screening program, and (2) measure the post-disclosure uptake of National Comprehensive Cancer Network (NCCN) guideline-recommended risk management. We retrospectively reviewed electronic health record (EHR) and billing data from a female population of BRCA1/2 P/LP variant carriers without a personal history of breast or ovarian cancer enrolled in Geisinger's MyCode genomic screening program with at least a one-year post-disclosure observation period. We identified 59 women for the study cohort out of 50,726 MyCode participants. We found no statistically significant differences in inpatient and outpatient utilization and average total costs between one-year pre- and one-year post-disclosure periods ($18,821 vs. $19,359, p = 0.76). During the first year post-disclosure, 49.2% of women had a genetic counseling visit, 45.8% had a mammography and 32.2% had an MRI. The uptake of mastectomy and oophorectomy was 3.5% and 11.8%, respectively, and 5% of patients received chemoprevention.

Implementing universal Lynch syndrome screening (IMPULSS): protocol for a multi-site study to identify strategies to implement, adapt, and sustain genomic medicine programs in different organizational contexts.

BACKGROUND: Systematic screening of all colorectal tumors for Lynch Syndrome (LS) has been recommended since 2009. Currently, implementation of LS screening in healthcare systems remains variable, likely because LS screening involves the complex coordination of multiple departments and individuals across the healthcare system. Our specific aims are to (1) describe variation in LS screening implementation across multiple healthcare systems; (2) identify conditions associated with both practice variation and optimal implementation; (3) determine the relative effectiveness, efficiency, and costs of different LS screening protocols by healthcare system; and (4) develop and test in a real-world setting an organizational toolkit for LS screening program implementation and improvement. This toolkit will promote effective implementation of LS screening in various complex health systems. METHODS: This study includes eight healthcare systems with 22 clinical sites at varied stages of implementing LS screening programs. Guided by the Consolidated Framework for Implementation Research (CFIR), we will conduct in-depth semi-structured interviews with patients and organizational stakeholders and perform economic evaluation of site-specific implementation costs. These processes will result in a comprehensive cross-case analysis of different organizational contexts. We will utilize qualitative data analysis and configurational comparative methodology to identify facilitators and barriers at the organizational level that are minimally sufficient and necessary for optimal LS screening implementation. DISCUSSION: The overarching goal of this project is to combine our data with theories and tools from implementation science to create an organizational toolkit to facilitate implementation of LS screening in various real-world settings. Our organizational toolkit will account for issues of complex coordination of care involving multiple stakeholders to enhance implementation, sustainability, and ongoing improvement of evidence-based LS screening programs. Successful implementation of such programs will ultimately reduce suffering of patients and their family members from preventable cancers, decrease waste in healthcare system costs, and inform strategies to facilitate the promise of precision medicine. TRIAL REGISTRATION: N/A.

Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer.

PURPOSE: The aim of this study was to examine Lynch syndrome screening of patients with metastatic colorectal cancer in integrated health-care-delivery organizations. METHODS: We determined the availability of Lynch syndrome screening criteria and actual Lynch syndrome screening in the medical records of 1,188 patients diagnosed with metastatic colorectal cancer between 2004 and 2009 at seven institutions in the Cancer Research Network. RESULTS: We found infrequent use of Lynch syndrome screening (41/1,188). Family history was available for 937 of the 1,188 patients (79%). There was sufficient information to assess Lynch syndrome risk using family history-based criteria in 719 of the 937 patients (77%) with family history documentation. In 391 individuals with a family history of a Lynch syndrome-associated cancer, 107 (27%) could not be evaluated due to missing information such as age of cancer onset. Eleven percent of patients who met the Bethesda criteria and 25% of individuals who met the Amsterdam II criteria were screened for Lynch syndrome. Recommended guidelines were adhered to during screening, but no testing method was preferred. CONCLUSION: The information required for Lynch syndrome screening decisions is routinely collected but seldom used. There is a critical gap between collection of family history and its use to guide Lynch syndrome screening, which may support a case for implementation of universal screening guidelines.

Perception of direct-to-consumer genetic testing and direct-to-consumer advertising of genetic tests among members of a large managed care organization.

This small qualitative study was designed to determine possible attitudes toward and understanding of direct-to-consumer (DTC) genetic testing among members of a large managed care organization, and whether differences might exist between population groups. Ten focus groups were conducted by population type (high risk, White, African American, Hispanic/Latino) to determine knowledge, attitudes and beliefs about DTC genetics. Focus group transcripts were coded for attitudes toward and framing of the issue. Study results found participants were negative towards DTC genetic testing but they also found some aspects useful. Participants framed the issue mainly in terms of disease prevention and uncertainty of reaction to results, with some variation between population types. The concept of an "Informed Consumer," or process to seek information when the issue becomes personally relevant, emerged. This concept suggests that individuals may seek additional assistance to make personally-appropriate choices when faced with a DTC advertisement or genetic test.

Assessment of barriers to changing practice as CME outcomes.

INTRODUCTION: Continuing medical education (CME) is meant to drive and support improvements in practice. To achieve this goal, CME activities must move beyond simply purveying knowledge, instead helping attendees to contextualize information and to develop strategies for implementing new learning. CME attendees face different barriers to implementing learning, depending on both personal and practice specific contexts. We sought to develop a framework, applicable across multiple CME activities, for categorizing barriers that learners anticipated encountering after CME activities. METHODS: Building on previous work, qualitative research methods were used to develop an enhanced framework classifying attendee-perceived barriers to implementing CME learnings in practice. Three thousand one hundred thirty (3130) narrative responses on attendee-perceived barriers to implementing learnings were collected from 75 Kaiser Permanente Colorado live CME activities for family medicine, internal medicine, pediatric, and OB/GYN clinicians in 2008 and 2009. RESULTS: Our CME Learning Transfer Barrier Framework contains 27 discrete barriers in 12 barrier categories (including "none"). The barrier framework was applicable across two years of live CME activities for different clinician target audiences. DISCUSSION: Assessing, characterizing, and summarizing barriers to implementing learning during CME activities can provide valuable information to inform subsequent CME interventions, and provide feedback to organizational leaders to inform performance improvement efforts. The framework may be applicable to other CME formats and to CME activities for audiences in different practice settings.

The use of internet-based technology to tailor well-child care encounters.

OBJECTIVE: The goal was to evaluate the feasibility and acceptance of a new model for well-child care (WCC) in a large health maintenance organization. METHODS: We designed a new model of WCC that engages families in Internet-based developmental and behavioral screening, allows for review of the results before the visit, and allows for selection of the appropriate visit type (e-visit, e-visit with brief provider visit, or extended encounter). The new model was pilot-tested in 2 practices within a large health maintenance organization. Seven providers and 70 parents participated in the study. Parents and providers were surveyed regarding their experience and satisfaction with the encounter. RESULTS: Seventy-five percent of parents thought that the online previsit assessment improved or very much improved the WCC visit. However, 12% of parents found the online assessment somewhat or very difficult to use. All of the parents found the e-visit or the e-visit with brief provider visit acceptable or very acceptable, compared with a standard WCC visit. All 7 providers thought that use of the new model helped focus the visit and that they would continue or definitely continue to use the model. CONCLUSIONS: We demonstrated the feasibility of a new model of WCC that engaged parents in previsit assessment and used alternative visit types to tailor care to the needs of the family. Future research will be needed to examine the impact of this model on important WCC outcomes.