"Go ahead and screen" - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients.

BACKGROUND: Lynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC). Universal tumor screening (UTS) of newly diagnosed CRC cases is recommended to aid in diagnosis of LS and reduce cancer-related morbidity and mortality. However, not all health systems have adopted UTS processes and implementation may be inconsistent due to system and patient-level complexities. METHODS: To identify barriers, facilitators, and suggestions for improvements of the UTS process from the patient perspective, we conducted in-depth, semi-structured interviews with patients recently diagnosed with CRC, but not screened for or aware of LS. Patients were recruited from eight regionally diverse US health systems. Interviews were conducted by telephone, 60-minutes, audio-recorded, and transcribed. An inductive, constant comparative analysis approach was employed.  RESULTS: We completed 75 interviews across the eight systems. Most participants were white (79%), about half (52%) were men, and the mean age was 60 years. Most self-reported either no (60%) or minimal (40%) prior awareness of LS. Overall, 96% of patients stated UTS should be a routine standard of care for CRC tumors, consistently citing four primary motivations for wanting to know their LS status and engage in the process for LS identification: "knowledge is power"; "family knowledge"; "prevention and detection"; and "treatment and surveillance." Common concerns pertaining to the process of screening for and identifying LS included: creating anticipatory worry for patients, the potential cost and the accuracy of the genetic test, and possibly having one's health insurance coverage impacted by the LS diagnosis. Patients suggested health systems communicate LS results in-person or by phone from a trained expert in LS; offer proactive verbal and written education about LS, the screening steps, and any follow-up surveillance recommendations; and support patients in communicating their LS screening to any of their blood relatives. CONCLUSION: Our qualitative findings demonstrate patients with CRC have a strong desire for healthcare systems to regularly implement and offer UTS. Patients offer key insights for health systems to guide future implementation and optimization of UTS and other LS screening programs and maximize diagnosis of individuals with LS and improve cancer-related surveillance and outcomes. TRIAL REGISTRATION: Not available: not a clinical trial.

A picture is worth a thousand words: advancing the use of visualization tools in implementation science through process mapping and matrix heat mapping.

BACKGROUND: Identifying key determinants is crucial for improving program implementation and achieving long-term sustainment within healthcare organizations. Organizational-level complexity and heterogeneity across multiple stakeholders can complicate our understanding of program implementation. We describe two data visualization methods used to operationalize implementation success and to consolidate and select implementation factors for further analysis. METHODS: We used a combination of process mapping and matrix heat mapping to systematically synthesize and visualize qualitative data from 66 stakeholder interviews across nine healthcare organizations, to characterize universal tumor screening programs of all newly diagnosed colorectal and endometrial cancers and understand the influence of contextual factors on implementation. We constructed visual representations of protocols to compare processes and score process optimization components. We also used color-coded matrices to systematically code, summarize, and consolidate contextual data using factors from the Consolidated Framework for Implementation Research (CFIR). Combined scores were visualized in a final data matrix heat map. RESULTS: Nineteen process maps were created to visually represent each protocol. Process maps identified the following gaps and inefficiencies: inconsistent execution of the protocol, no routine reflex testing, inconsistent referrals after a positive screen, no evidence of data tracking, and a lack of quality assurance measures. These barriers in patient care helped us define five process optimization components and used these to quantify program optimization on a scale from 0 (no program) to 5 (optimized), representing the degree to which a program is implemented and optimally maintained. Combined scores within the final data matrix heat map revealed patterns of contextual factors across optimized programs, non-optimized programs, and organizations with no program. CONCLUSIONS: Process mapping provided an efficient method to visually compare processes including patient flow, provider interactions, and process gaps and inefficiencies across sites, thereby measuring implementation success via optimization scores. Matrix heat mapping proved useful for data visualization and consolidation, resulting in a summary matrix for cross-site comparisons and selection of relevant CFIR factors. Combining these tools enabled a systematic and transparent approach to understanding complex organizational heterogeneity prior to formal coincidence analysis, introducing a stepwise approach to data consolidation and factor selection.

Perspectives of Rural Primary Care Clinicians on Pediatric Attention-Deficit/Hyperactivity Disorder Care.

OBJECTIVE: Despite efficacious treatments, evidence-based guidelines, and increased availability of integrated behavioral health care, youth coping with attention-deficit/hyperactivity disorder (ADHD) receive suboptimal care. More research is needed to understand and address care gaps, particularly within rural health systems that face unique challenges. We conducted a qualitative study within a predominantly rural health system with a pediatric-integrated behavioral health care program to address research gaps and prepare for quality improvement initiatives, including primary care clinician (PCC) trainings and clinical decision support tools in the electronic health record (EHR). METHOD: Semistructured interviews were conducted with 26 PCCs representing clinics within the health system. Interview guides were based on the Practical Robust Implementation and Sustainability Model to elicit PCC views regarding determinants of current practices and suggestions to guide quality improvement efforts. We used thematic analysis to identify patterns of responding that were common across participants. RESULTS: PCCs identified several internal and external contextual factors as determinants of current practices. Of note, PCCs recommended increased access to continuing education trainings held in clinic over lunch and delivered in less than 30 minutes. Suggested improvements to the EHR included incorporating parent and teacher versions of the Vanderbilt Rating Scale into the EHR, documentation templates aligned with evidence-based guidelines, and alerts and suggestions to aid medication management during appointments. CONCLUSION: Future research to identify implementation strategies to help rural PCCs adopt innovations are needed given the increased responsibility for managing ADHD care and intractable gaps in access to behavioral health care in rural regions.

Should Health Systems Share Genetic Findings With At-Risk Relatives When the Proband Is Deceased? Interviews With Individuals Diagnosed With Lynch Syndrome.

Purpose: Genetic information has health implications for patients and their biological relatives. Death of a patient before sharing a genetic diagnosis with at-risk relatives is a missed opportunity to provide important information that could guide interventions to minimize cancer-related morbidity and mortality in relatives. Methods: We performed semi-structured interviews with individuals diagnosed with Lynch syndrome at 1 of 4 health systems to explore their perspectives on whether health systems should share genetic risk information with relatives following a patient's death. An inductive, open-coding approach was used to analyze audio-recorded content, with software-generated code reports undergoing iterative comparative analysis by a qualitative research team to identify broad themes and representative participant quotes. Results: Among 23 participating interviewees, 19 supported health systems informing relatives about their Lynch syndrome risk while the remaining 4 were conflicted about patient privacy. Most (n=22) wanted their Lynch syndrome diagnosis shared with relatives if they were unable to share and to be informed of their own risk if a diagnosed relative was unable to share. The most common issues noted regarding information-sharing with relatives included patient privacy and privacy laws (n=8), potential anxiety (n=5), and lack of contact information for relatives (n=3). Interviewee perspectives on how health systems could communicate genetic findings generated a consensus: When - a few months after but within a year of the patient's death; How - explanatory letter and follow-up phone call; and Who - a knowledgeable professional. Conclusions: Interviews demonstrated strong and consistent perspectives from individuals diagnosed with Lynch syndrome that health systems have a role and responsibility to inform relatives of genetic findings following a patient's death.

Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.

BACKGROUND: Limited information is available regarding clinician and participant behaviors after disclosure of genomic risk variants for familial hypercholesterolemia (FH) from a population genomic screening program. METHODS: We conducted a retrospective cohort study of MyCode participants with an FH risk variant beginning 2 years before disclosure until January 16, 2019. We analyzed lipid-lowering prescriptions (clinician behavior), medication adherence (participant behavior), and LDL (low-density lipoprotein) cholesterol levels (health outcome impact) pre- and post-disclosure. Data were collected from electronic health records and claims. RESULTS: The cohort included 96 participants of mean age 57 (22-90) years with median follow-up of 14 (range, 3-39) months. Most (90%) had a hypercholesterolemia diagnosis but no specific FH diagnosis before disclosure; 29% had an FH diagnosis post-disclosure. After disclosure, clinicians made 36 prescription changes in 38% of participants, mostly in participants who did not achieve LDL cholesterol goals pre-disclosure (81%). However, clinicians wrote prescriptions for fewer participants post-disclosure (71/96, 74.0%) compared with pre-disclosure (81/96, 84.4%); side effects were documented for most discontinued prescriptions (23/25, 92%). Among the 16 participants with claims data, medication adherence improved (proportion of days covered pre-disclosure of 70% [SD, 24.7%] to post-disclosure of 79.1% [SD, 27.3%]; P=0.05). Among the 52 (54%) participants with LDL cholesterol values both before and after disclosure, average LDL cholesterol decreased from 147 to 132 mg/dL (P=0.003). CONCLUSIONS: Despite disclosure of an FH risk variant, nonprescribing and nonadherence to lipid-lowering therapy remained high. However, when clinicians intensified medication regimens and participants adhered to medications, lipid levels decreased.

Engaging Parents and Health Care Stakeholders to Inform Development of a Behavioral Intervention Technology to Promote Pediatric Behavioral Health: Mixed Methods Study.

BACKGROUND: Despite effective psychosocial interventions, gaps in access to care persist for youth and families in need. Behavioral intervention technologies (BITs) that apply psychosocial intervention strategies using technological features represent a modality for targeted prevention that is promising for the transformation of primary care behavioral health by empowering parents to take charge of the behavioral health care of their children. To realize the potential of BITs for parents, research is needed to understand the status quo of parental self-help and parent-provider collaboration to address behavioral health challenges and unmet parental needs that could be addressed by BITs. OBJECTIVE: The aim of this study is to conduct foundational research with parents and health care stakeholders (HCS) to discover current practices and unmet needs related to common behavioral health challenges to inform the design, build, and testing of BITs to address these care gaps within a predominantly rural health system. METHODS: We conducted a convergent mixed-parallel study within a large, predominantly rural health system in which the BITs will be developed and implemented. We analyzed data from parent surveys (N=385) on current practices and preferences related to behavioral health topics to be addressed in BITs along with focus group data of 48 HCS in 9 clinics regarding internal and external contextual factors contributing to unmet parental needs and current practices. By comparing and relating the findings, we formed interpretations that will inform subsequent BIT development activities. RESULTS: Parents frequently endorsed several behavioral health topics, and several topics were relatively more or less frequently endorsed based on the child's age. The HCS suggested that BITs may connect families with evidence-based guidance sooner and indicated that a web-based platform aligns with how parents already seek behavioral health guidance. Areas of divergence between parents and HCS were related to internalizing problems and cross-cutting issues such as parenting stress, which may be more difficult for health care HCS to detect or address because of the time constraints of routine medical visits. CONCLUSIONS: These findings provide a rich understanding of the complexity involved in meeting parents' needs for behavioral health guidance in a primary care setting using BITs. User testing studies for BIT prototypes are needed to successfully design, build, and test effective BITs to empower parents to take charge of promoting the behavioral health of their children.

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.

Maternal and Infant Health Care Costs Related to Preeclampsia.

OBJECTIVE: To provide U.S. case-based preeclampsia health care cost estimates for mothers and infants from a U.S. payer perspective, with comparisons with both uncomplicated and hypertensive pregnancies. METHODS: Electronic health record and billing data from a large regional integrated health care system in Pennsylvania were used to identify mother-singleton infant pairs with deliveries between 2010 and 2015. Data on clinical care and costs using actual payment amounts were compiled from 20 weeks of gestation to 6 weeks postdelivery for mothers and birth to 12 months for infants. Three defined pregnancy study cohorts, uncomplicated, hypertension and preeclampsia, were matched using a 1:1:1 ratio on the basis of maternal age, parity, body mass index, and comorbidities. Costs per pregnancy were calculated in 2015 dollars and preeclampsia incremental costs estimated by subtracting the average cost of the matched cohorts. RESULTS: The final study population included 712 matched mother-infant pairs in each cohort. The mean combined maternal and infant medical care costs in the preeclampsia cohort of $41,790 were significantly higher than those for the uncomplicated cohort of $13,187 (P<.001) and hypertension cohort of $24,182 (P<.001), and were largely driven by differences in the infant costs. The mean infant cost in the preeclampsia cohort were $28,898, in the uncomplicated cohort $3,669 and $12,648 in the hypertension cohort (P<.001). Mothers with preeclampsia delivered 3 weeks earlier (median 36.5 weeks of gestation) than women in the uncomplicated cohort and more than 2 weeks earlier than women in the hypertension cohort. A significantly larger percentage of women with preeclampsia and their infants experienced adverse events (13.9% for mothers and 14.6% for infants) compared with unaffected women (4.1% and 0.7%) and those with hypertension (9.4% and 4.8%), respectively (P<.001). CONCLUSION: The economic burden of preeclampsia health care is significant with the main cost drivers being infant health care costs associated with lower gestational age at birth and greater adverse outcomes. FUNDING SOURCE: This study is funded by Progenity, Inc.