Development and initial testing of a multi-stakeholder intervention for Lynch syndrome cascade screening: an intervention mapping approach.

BACKGROUND: Lynch syndrome is an underdiagnosed hereditary condition carrying an increased lifetime risk for colorectal and endometrial cancer and affecting nearly 1 million people in the United States. Cascade screening, systematic screening through family members of affected patients, could improve identification of Lynch syndrome, but this strategy is underused due to multi-level barriers including low knowledge about Lynch syndrome, low access to genetics services, and challenging family dynamics. METHODS: We used intervention mapping, a 6-step methodology to create stakeholder-driven interventions that meet the needs of a target population, to develop an intervention to improve cascade screening for Lynch syndrome. The intervention development process was guided by input from key stakeholders in Lynch syndrome care and patients. We conducted usability testing on the intervention with Lynch syndrome patients using qualitative semi-structured interviewing and rapid qualitative analysis. RESULTS: We developed a workbook intervention named Let's Talk that addresses gaps in knowledge, skills, self-efficacy, outcome expectancy and other perceived barriers to cascade screening for Lynch syndrome. Let's Talk contained educational content, goal setting activities, communication planning prompts and supplemental resources for patients to plan family communication. Evidence-based methods used in the workbook included information chunking, guided practice, goal setting and gain-framing. We conducted usability testing focused on the complexity and relative advantage of the intervention through 45-min virtual interviews with 10 adult patients with Lynch syndrome recruited from a national advocacy organization in the United States. Usability testing results suggested the intervention was acceptable in terms of complexity and relative advantage to other available resources, but additional information for communication with young or distant family members and a web-based platform could enhance the intervention's usability. CONCLUSIONS: Intervention mapping provided a framework for intervention development that addressed the unique needs of Lynch syndrome patients in overcoming barriers to cascade screening. Future work is needed to transform Let's Talk into a web-based tool and evaluate the effectiveness of the intervention in clinical practice with patients and genetic counselors. Intervention mapping can be useful to researchers as an evidence-based technique to develop stakeholder-centered interventions for addressing the needs of other unique populations.

Examining the role of language competency in genetic testing awareness among adults in the United States.

English language competency, as a component of health literacy, is associated with increased awareness and uptake of health-related genetic testing. The relationship between language competency and genetic testing awareness has not yet been explored in the wider U.S. population yet has significant implications for the practice of genetic counselors and in the promotion of genomic medicine for public health. We analyzed data from the 2017 Health Information National Trends Survey 5 Cycle 1 using weighted logistic regression to model the relationship between self-reported English competency, genetic testing awareness, and race and explore adjusted odds ratios and average marginal effects for levels of English competency. Compared to respondents with high English competency, the probability of genetic testing awareness was 20 percentage points lower for White participants reporting moderate English competency (p = .029) and 37 percentage points lower for non-White participants reporting low English competency (p < .001). Future research is needed to understand the mechanisms through which English competency affects awareness and uptake of genetic testing in the United States and to develop strategies to overcome language barriers for the practice of genetic counselors and the implementation of genetics services.

Challenges and opportunities for Lynch syndrome cascade testing in the United States.

Lynch syndrome is an underdiagnosed genetic condition that increases lifetime colorectal, endometrial, and other cancer risk. Cascade testing in relatives is recommended to increase diagnoses and enable access to cancer prevention services, yet uptake is limited due to documented multi-level barriers. Individual barriers such as feelings of fear, guilt, and anxiety and limited knowledge about Lynch syndrome as well as interpersonal barriers including complex family dynamics and language barriers limit family communication about Lynch syndrome and prevent uptake of genetic screening for relatives. Organizational and environmental barriers including a shortage of genetics professionals, high costs, and fears of discrimination also reduce cascade testing. These multi-level barriers may disproportionately impact underserved populations in the United States, such as individuals with lower incomes, limited English-speaking proficiency, lower educational attainment, and inadequate access to health systems. Multi-level facilitators of cascade testing include interpersonal support from family members, peers, and healthcare providers, educational resources, and motivation to improve family health. Taken together, these barriers and facilitators demonstrate a need for interventions and strategies that address multi-level factors to increase cascade testing in families with Lynch syndrome and other hereditary cancer conditions. We provide an example of a cascade testing intervention that has been developed for use in individuals diagnosed with Lynch syndrome and discuss the variety of current approaches to addressing these multi-level barriers.

Measuring Costs of Cardiovascular Disease Prevention for Patients with Familial Hypercholesterolemia in Administrative Claims Data.

INTRODUCTION: Familial hypercholesterolemia is a common genetic condition that significantly increases an individual's risk of cardiovascular events such as heart attack, stroke, and cardiac death and is a candidate for population-wide screening programs. Economic analyses of strategies to identify and treat familial hypercholesterolemia are limited by a lack of real-world cost estimates for screening services and medications for reducing cardiovascular risk in this population. METHODS: We estimated the cost of lipid panel testing in patients with hyperlipidemia and the cost of statins, ezetimibe, and PCKS9 inhibitors in patients with familial hypercholesterolemia from a commercial claims database and report costs and charges per panel and prescription by days' supply. RESULTS: The mean cost for a 90-day supply for statins was $183.33, 2.3 times the mean cost for a 30-day supply at $79.35. PCSK9 inhibitors generated the highest mean costs among medications used by patients with familial hypercholesterolemia. CONCLUSIONS: Lipid testing and lipid-lowering medications for cardiovascular disease prevention generate substantial real-world costs which can be used to improve cost-effectiveness models of familial hypercholesterolemia screening and care management.

Using a Participatory Approach to Develop Research Priorities for Future Leaders in Cancer-Related Precision Public Health.

Precision public health is an emerging discipline combining principles and frameworks of precision health with the goal of improving population health. The development of research priorities drawing on the strengths of precision and public health is critical to facilitate the growth of the discipline to improve health outcomes. We held an interactive workshop during a virtual conference bringing together early-career researchers across public health disciplines to identify research priorities in precision public health. The workshop participants discussed and voted to identify three priority areas for future research and capacity building including 1) enhancing equity and access to precision public health research and resources, 2) improving tools and metrics for evaluation and 3) applying principles of implementation science to support sustainable practices. Participants also developed future objectives for achieving each priority. Future efforts by working groups will continue the process of identifying, revising, and advancing critical research priorities to grow the impact of precision public health.

Precision Public Health Initiatives in Cancer: Proceedings from the Transdisciplinary Conference for Future Leaders in Precision Public Health.

BACKGROUND: Precision public health is an emergent field that requires transdisciplinary collaborations and leverages innovative approaches to improve population health. These opportunities have inspired a new generation of precision public health researchers. Despite burgeoning interest in precision public health, there are limited opportunities for researchers to convene and continue the momentum of this field. METHODS: The Transdisciplinary Conference for Future Leaders in Precision Public Health was the among the first events to bring together international researchers and practitioners to learn, network, and agenda set for the future of the field. The conference took place virtually on October 14 and 15, 2021. RESULTS: The conference spanned two days and featured a keynote address, speakers from public health disciplines who are international leaders in precision-based research, networking opportunities, a poster session, and research agenda setting activities. CONCLUSION: The conference was a critical first step to creating a shared international conversation about precision public health, especially among early-stage investigators. This allowed attendees to continue building their individual skills and international collaborations to support the growth of the field of precision public health.

Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review.

Studies suggest that 1-3% of the general population in the United States unknowingly carry a genetic risk factor for a common hereditary disease. Population genetic screening is the process of offering otherwise healthy patients in the general population testing for genomic variants that predispose them to diseases that are clinically actionable, meaning that they can be prevented or mitigated if they are detected early. Population genetic screening may significantly reduce morbidity and mortality from these diseases by informing risk-specific prevention or treatment strategies and facilitating appropriate participation in early detection. To better understand current barriers, facilitators, perceptions, and outcomes related to the implementation of population genetic screening, we conducted a systematic review and searched PubMed, Embase, and Scopus for articles published from date of database inception to May 2020. We included articles that 1) detailed the perspectives of participants in population genetic screening programs and 2) described the barriers, facilitators, perceptions, and outcomes related to population genetic screening programs among patients, healthcare providers, and the public. We excluded articles that 1) focused on direct-to-consumer or risk-based genetic testing and 2) were published before January 2000. Thirty articles met these criteria. Barriers and facilitators to population genetic screening were organized by the Social Ecological Model and further categorized by themes. We found that research in population genetic screening has focused on stakeholder attitudes with all included studies designed to elucidate individuals' perceptions. Additionally, inadequate knowledge and perceived limited clinical utility presented a barrier for healthcare provider uptake. There were very few studies that conducted long-term follow-up and evaluation of population genetic screening. Our findings suggest that these and other factors, such as prescreen counseling and education, may play a role in the adoption and implementation of population genetic screening. Future studies to investigate macro-level determinants, strategies to increase provider buy-in and knowledge, delivery models for prescreen counseling, and long-term outcomes of population genetic screening are needed for the effective design and implementation of such programs. Systematic Review Registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020198198.