Establishing an infrastructure to optimize the integration of genomics into research: Results from a precision health needs assessment.

Researchers across the translational research continuum have emphasized the importance of integrating genomics into their research program. To date capacity and resources for genomics research have been limited; however, a recent population-wide genomic screening initiative launched at the Medical University of South Carolina in partnership with Helix has rapidly advanced the need to develop appropriate infrastructure for genomics research at our institution. We conducted a survey with researchers from across our institution (n = 36) to assess current knowledge about genomics health, barriers, and facilitators to uptake, and next steps to support translational research using genomics. We also completed 30-minute qualitative interviews with providers and researchers from diverse specialties (n = 8). Quantitative data were analyzed using descriptive analyses. A rapid assessment process was used to develop a preliminary understanding of each interviewee's perspective. These interviews were transcribed and coded to extract themes. The codes included types of research, alignment with precision health, opportunities to incorporate precision health, examples of researchers in the field, barriers, and facilitators to uptake, educational activity suggestions, questions to be answered, and other observations. Themes from the surveys and interviews inform implementation strategies that are applicable not only to our institution, but also to other organizations interested in making genomic data available to researchers to support genomics-informed translational research.

Researchers have recognized the significance of integrating genomics into their studies across the translational research continuum. However, limited capacity and resources have hindered progress in genomics research. We conducted a survey and qualitative interviews with researchers and healthcare providers from our institution to assess their understanding of genomics in health, identify barriers, and facilitators to its adoption, and determine next steps for supporting translational research using genomics. Themes identified included different types of research, alignment with precision health, opportunities to incorporate precision health, examples of researchers in the field, barriers, and facilitators to adoption, educational recommendations, unanswered questions, and other valuable observations. The insights gathered from the surveys and interviews informed the development of implementation strategies. These strategies can benefit not only our institution but also other researchers who are interested in providing access to genomic data to support genomics-informed translational research.

Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants.

We use the implementation science framework RE-AIM (reach, effectiveness, adoption, implementation, and maintenance) to describe outcomes of In Our DNA SC, a population-wide genomic screening (PWGS) program. In Our DNA SC involves participation through clinical appointments, community events, or at home collection. Participants provide a saliva sample that is sequenced by Helix, and those with a pathogenic variant or likely pathogenic variant for CDC Tier 1 conditions are offered free genetic counseling. We assessed key outcomes among the first cohort of individuals recruited. Over 14 months, 20,478 participants enrolled, and 14,053 samples were collected. The majority selected at-home sample collection followed by clinical sample collection and collection at community events. Participants were predominately female, White (self-identified), non-Hispanic, and between the ages of 40-49. Participants enrolled through community events were the most racially diverse and the youngest. Half of those enrolled completed the program. We identified 137 individuals with pathogenic or likely pathogenic variants for CDC Tier 1 conditions. The majority (77.4%) agreed to genetic counseling, and of those that agreed, 80.2% completed counseling. Twelve clinics participated, and we conducted 108 collection events. Participants enrolled at home were most likely to return their sample for sequencing. Through this evaluation, we identified facilitators and barriers to implementation of our state-wide PWGS program. Standardized reporting using implementation science frameworks can help generalize strategies and improve the impact of PWGS.

Barriers and facilitators to the implementation of family cancer history collection tools in oncology clinical practices.

INTRODUCTION: This study aimed to identify barriers and facilitators to the implementation of family cancer history (FCH) collection tools in clinical practices and community settings by assessing clinicians' perceptions of implementing a chatbot interface to collect FCH information and provide personalized results to patients and providers. OBJECTIVES: By identifying design and implementation features that facilitate tool adoption and integration into clinical workflows, this study can inform future FCH tool development and adoption in healthcare settings. MATERIALS AND METHODS: Quantitative data were collected using survey to evaluate the implementation outcomes of acceptability, adoption, appropriateness, feasibility, and sustainability of the chatbot tool for collecting FCH. Semistructured interviews were conducted to gather qualitative data on respondents' experiences using the tool and recommendations for enhancements. RESULTS: We completed data collection with 19 providers (n = 9, 47%), clinical staff (n = 5, 26%), administrators (n = 4, 21%), and other staff (n = 1, 5%) affiliated with the NCI Community Oncology Research Program. FCH was systematically collected using a wide range of tools at sites, with information being inserted into the patient's medical record. Participants found the chatbot tool to be highly acceptable, with the tool aligning with existing workflows, and were open to adopting the tool into their practice. DISCUSSION AND CONCLUSIONS: We further the evidence base about the appropriateness of scripted chatbots to support FCH collection. Although the tool had strong support, the varying clinical workflows across clinic sites necessitate that future FCH tool development accommodates customizable implementation strategies. Implementation support is necessary to overcome technical and logistical barriers to enhance the uptake of FCH tools in clinical practices and community settings.

Development of a Hereditary Breast and Ovarian Cancer and Genetics Curriculum for Community Health Workers: KEEP IT (Keeping Each other Engaged Program via IT) Community Health Worker Training.

We developed a curriculum for community health workers (CHWs) using an innovative, community-engaged focus group and Delphi process approach. Equipping CHWs with knowledge of hereditary breast and ovarian cancer syndrome (HBOC) and genetics could help enhance identification of women at risk for HBOC, referral, and navigation through genetic services. We conducted focus groups with five CHWs and a three-round Delphi process with eight experts. In the first round of the Delphi process, participants rated and commented on draft curriculum modules. The second round involved live video discussion to highlight points of confusion and concern in the modules. The curriculum was revised and refined based on quantitative and qualitative data and reassessed by the experts in Round 3. Ultimately, agreement was achieved on eight of 10 modules when assessing for clarity of learning objectives, seven out of 10 when assessing for adult learning theory, and nine out of 10 when assessing for participants' ability to learn desired knowledge. We plan to virtually deliver this curriculum to CHWs to enhance their HBOC and genomic competencies. By equipping CHWs to understand and participate in genomics education, we can enable more equitable participation in genomics-informed clinical care and research. Beyond this curriculum, the Delphi methodology can further be used to design content for new CHW curriculums.

Implementation Mapping for Managing Patients at High Risk for Hereditary Cancer.

INTRODUCTION: Currently, no standard workflow exists for managing patients with pathogenic variants that put them at higher risk for hereditary cancers. Therefore, follow-up care for individuals with pathogenic variants is logistically challenging and results in poor guideline adherence. To address this challenge, authors created clinical management strategies for individuals identified at high risk for hereditary cancers. METHODS: An implementation mapping approach was used to develop and evaluate the establishment of a Hereditary Cancer Clinic at the Medical University of South Carolina throughout in 2022. This approach consisted of 5 steps: conduct a needs assessment, identify objectives, select implementation strategies, produce implementation protocols, and develop an evaluation plan. The needs assessment consisted of qualitative interviews with patients (n=11), specialists (n=9), and members of the implementation team (n=4). Interviews were coded using the Consolidated Framework for Implementation Research to identify barriers and facilitators to establishment of the Hereditary Cancer Clinic. Objectives were identified, and then the team selected implementation strategies and produced implementation protocols to address concerns identified during the needs assessment. Authors conducted a second round of patient interviews to assess patient education materials. RESULTS: The research team developed a long-term evaluation plan to guide future assessment of implementation, service, and clinical/patient outcomes. CONCLUSIONS: This approach provides the opportunity for real-time enhancements and impact, with strategies for care specialists, patients, and implementation teams. Findings support ongoing efforts to improve patient management and outcomes while providing an opportunity for long-term evaluation of implementation strategies and guidelines for patients at high risk for hereditary cancers.

Use of a multi-phased approach to identify and address facilitators and barriers to the implementation of a population-wide genomic screening program.

INTRODUCTION: Population-wide genomic screening for CDC Tier-1 conditions offers the ability to identify the 1-2% of the US population at increased risk for Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Familial Hypercholesterolemia. Implementation of population-wide screening programs is highly complex, requiring engagement of diverse collaborators and implementation teams. Implementation science offers tools to promote integration of these programs through the identification of determinants of success and strategies to address potential barriers. METHODS: Prior to launching the program, we conducted a pre-implementation survey to assess anticipated barriers and facilitators to reach, effectiveness, adoption, implementation, and maintenance (RE-AIM), among 51 work group members (phase 1). During the first year of program implementation, we completed coding of 40 work group meetings guided by the Consolidated Framework for Implementation Research (CFIR) (phase 2). We matched the top barriers to implementation strategies identified during phase 2 using the CFIR-ERIC (Expert Recommendation for Implementing Change) matching tool. RESULTS: Staffing and workload concerns were listed as the top barrier in the pre-implementation phase of the program. Top barriers during implementation included adaptability (n = 8, 20%), complexity (n = 14, 35%), patient needs and resources (n = 9, 22.5%), compatibility (n = 11, 27.5%), and self-efficacy (n = 9, 22.5%). We identified 16 potential implementation strategies across six ERIC clusters to address these barriers and operationalized these strategies for our specific setting and program needs. CONCLUSION: Our findings provide an example of successful use of the CFIR-ERIC tool to guide implementation of a population-wide genomic screening program.

Applying the R = MC2 implementation science heuristic to assess the impact of readiness on reach and implementation of a population-wide genomic screening program.

Population-wide genomic screening for genes that have high penetrance and clinical actionability enhances the opportunity to identify individuals at risk for developing hereditary conditions. Organizational readiness has been shown to influence the likelihood of successful implementation of complex initiatives such as the integration of population-wide genomic screening in clinical settings. We use the organizational readiness heuristic R = MC2 to better understand three factors that influence readiness for implementation of In Our DNA SC, a population-wide genomic screening program: motivation to implement, general capacity of an organization, and innovation-specific capacities. We then assessed the influence of these readiness factors on implementation outcomes of reach (measured through enrollment rate) and implementation (measured through the number of DNA samples collected). Data were collected pre-implementation and captured during the three-month pilot phase of the In Our DNA SC program. We collected administrative data from the electronic health record and quantitatively captured elements of readiness through surveys distributed to provider champions and clinical administrative champions at the 10 sites implementing the population-wide genomic screening program. We facilitated innovation-specific capacity through training offered at each site, as well as technical assistance through weekly meetings with other implementing sites, and resources available to all staff. Forty percent of provider champions attended training and 80% of administrative champions attended training. An average of 3.7 additional staff were trained at each implementing site. Satisfaction with training positively influenced reach (ß = 0.0121, p = 0.0271) but did not impact implementation. Provider engagement (innovation capabilities) was associated with reach (ß = 0.0020, p = 0.0251) and clinical administrator engagement was associated with sample collection rate (ß = 0.2599, ß = 0.038). Readiness to change is considered one of the most important factors in understanding the potential opportunity for implementation. We found that motivation to adopt a population-wide genomic screening program positively impacted the program's reach. The type of champion influenced discrete outcomes, with provider champions positively impacting reach and administrative champions influencing implementation (assessed through sample collection rate). As genomics continues to be integrated into clinical practice, it will be important to understand the contextual factors that influence readiness for implementation and design support throughout the life-course of implementation to ensure the success of large-scale, complex initiatives.

Extending an Antiracism Lens to the Implementation of Precision Public Health Interventions.

Precision public health holds promise to improve disease prevention and health promotion strategies, allowing the right intervention to be delivered to the right population at the right time. Growing concerns underscore the potential for precision-based approaches to exacerbate health disparities by relying on biased data inputs and recapitulating existing access inequities. To achieve its full potential, precision public health must focus on addressing social and structural drivers of health and prominently incorporate equity-related concerns, particularly with respect to race and ethnicity. In this article, we discuss how an antiracism lens could be applied to reduce health disparities and health inequities through equity-informed research, implementation, and evaluation of precision public health interventions. (Am J Public Health. 2023;113(11):1210-1218. https://doi.org/10.2105/AJPH.2023.307386).

Developing and assessing a kin keeping scale with application to identifying central influencers in African American family networks.

Promoting family communication about inherited disease risk is an arena in which family systems theory is highly relevant. One family systems' construct that can support promotion of family communication regarding inherited disease risk is the notion of "kin keeping." However, kin keeping and whether it might be capitalized on to encourage family communication about inherited risk has been understudied. The goal of this report was to propose a broadened conceptualization of kin keeping that distinguishes between a structural functional perspective (role conceptualization) and transitional behaviors (skill conceptualization), and to develop and evaluate a scale that would enable this assertion to be tested among a sample of African American community health workers. We developed a scale using four steps: item development using concept analysis and content validity, scale development among a national sample (n = 312), scale evaluation using exploratory factor analysis (n = 52), and scale reduction. We then posed suppositions of associations that would indicate whether the developed kin keeping measure was assessing a specific family role or set of behaviors. Our results included the development of the first quantitative measure of kin keeping (9- and 15-item scales). Model fit for 9-item scale (CFI = 0.97, AFGI = 0.89, RMSEA = 0.09, SMRM = 0.06) and model fit for 15-item scale (CFI = 0.97, AFGI = 0.89, RMSEA = 0.06, SMRM = 0.05). These findings allow us to move toward more rigorous research about the role of kin keeping on information sharing and health decision making. Results also suggest that, contrary to the historical structural functional conceptualization of kin keeping as a role, kin keeping might also be conceptualized as a behavior or set of modifiable behaviors. Ultimately, the kin keeping scale could be used to operationalize kin keeping in various theoretical models and frameworks, guide intervention development to encourage or train for kin keeping behaviors, and test assumptions of whether families vary in the density of kin keeping.

Understanding men's beliefs and concerns about linking health data in the context of precision medicine.

Background/Objective: Linking data is a critical feature of precision medicine initiatives that involves integrating information from multiple sources to improve researchers' and clinicians' ability to deliver care. We have limited understanding of how individuals perceive linking data as it relates to precision medicine. The aim of this study was to identify how sociodemographics, comorbidities, and beliefs about precision medicine influence two outcomes related to linking data: beliefs about linking data and concerns about linking data among men. Methods: We recruited 124 adult men from primary care practices at a large clinical research university to complete a cross-sectional survey that included questions about sociodemographic characteristics, comorbidities, beliefs, benefits, and limitations of precision medicine, and two outcomes of interest: beliefs about the value of linking data and concerns about linking data. Descriptive statistics, bivariate associations, and multivariable regression were conducted. Results: Participants had positive beliefs about linking data for precision medicine (M = 4.05/5) and average concern about linking data (M = 2.1/5). Final multivariable models revealed that higher levels of loneliness are associated with more positive beliefs about linking data (ß = 0.41, p = 0.027). Races other than African American (ß = -0.64, p = 0.009) and those with lower perceived limitations of precision medicine were less likely to be concerned about linking data (ß = -0.75, p = 0.0006). Conclusion: Our results advance the literature about perceptions of linking data for use in clinical and research studies among men. Better understanding of factors associated with more positive perceptions of data linkages could help improve how researchers recruit and engage participants.

Anticipating adaptation: tracking the impact of planned and unplanned adaptations during the implementation of a complex population-based genomic screening program.

In 2021, the Medical University of South Carolina (MUSC) launched In Our DNA SC. This large-scale initiative will screen 100,000 individuals in South Carolina for three preventable hereditary conditions that impact approximately two million people in the USA but often go undetected. In anticipation of inevitable changes to the delivery of this complex initiative, we developed an approach to track and assess the impact of evaluate adaptations made during the pilot phase of program implementation. We used a modified version of the Framework for Reporting Adaptations and Modification-Enhanced (FRAME) and Adaptations to code adaptations made during the 3-month pilot phase of In Our DNA SC. Adaptations were documented in real-time using a REDCap database. We used segmented linear regression models to independently test three hypotheses about the impact of adaptations on program reach (rate of enrollment in the program, rate of messages viewed) and implementation (rate of samples collected) 7 days pre- and post-adaptation. Effectiveness was assessed using qualitative observations. Ten adaptations occurred during the pilot phase of program implementation. Most adaptations (60%) were designed to increase the number and type of patient contacted (reach). Adaptations were primarily made based on knowledge and experience (40%) or from quality improvement data (30%). Of the three adaptations designed to increase reach, shortening the recruitment message potential patients received significantly increased the average rate of invitations viewed by 7.3% (p = 0.0106). There was no effect of adaptations on implementation (number of DNA samples collected). Qualitative findings support improvement in effectiveness of the intervention after shortening the consent form and short-term positive impact on uptake of the intervention as measured by team member's participation. Our approach to tracking adaptations of In Our DNA SC allowed our team to quantify the utility of modifications, make decisions about pursuing the adaptation, and understand consequences of the change. Streamlining tools for tracking and responding to adaptations can help monitor the incremental impact of interventions to support continued learning and problem solving for complex interventions being delivered in health systems based on real-time data.

We tracked adaptations to a large-scale population genetic screening program at the Medical University of South Carolina (MUSC) using the Framework for Reporting Adaptations and Modifications-Enhanced (FRAME). We found adaptations during program roll-out that impacted implementation outcomes. Our approach to tracking adaptations for the program allowed us to quantify the utility of modifications, make decision about pursuing changes, and understand consequences of adaptations.

Understanding the Process of Family Cancer History Collection and Health Information Seeking.

PROBLEM ADDRESSED: To better understand the factors associated with family cancer history (FCH) information and cancer information seeking, we model the process an individual undergoes when assessing whether to gather FCH and seek cancer information and compare models by sociodemographics and family history of cancer. We used cross-sectional data from the Health Information National Trends Survey (HINTS 5, Cycle 2) and variables (e.g., emotion and self-efficacy) associated with the Theory of Motivated Information Management to assess the process of FCH gathering and information seeking. We completed path analysis to assess the process of FCH gathering and stratified path models. RESULTS: Those who felt they could lower their chances of getting cancer (emotion) were more confident in their ability to complete FCH on a medical form (self-efficacy; B = 0.11, p < .0001) and more likely to have discussed FCH with family members (B = 0.07, p < .0001). Those who were more confident in their ability to complete a summary of their family history on a medical form were more likely to have discussed FCH with family members (B = 0.34, p < .0001) and seek other health information (B = 0.24, p < .0001). Stratified models showed differences in this process by age, race/ethnicity, and family history of cancer. IMPLICATIONS FOR PUBLIC HEALTH RESEARCH AND PRACTICE: Tailoring outreach and education strategies to address differences in perceived ability to lower chances of getting cancer (emotion) and confidence in the ability to complete FCH (self-efficacy) could help encourage less engaged individuals to learn about their FCH and gather cancer information.

A scoping review of outer context constructs in dissemination and implementation science theories, models, and frameworks.

Many studies have explored organizational factors that facilitate implementation. However, there is still a limited understanding of determinants external to the implementing organization and their effects on evidence-based intervention (EBI) adoption, implementation, and outcomes. The purpose of this scoping review was to assess definitions of context and identify salient determinants of outer context found in dissemination and implementation theories, models, and frameworks. We employed a compilation of dissemination and implementation frameworks from two reviews as the data source. We abstracted the following information: type of article, outcomes of the framework, presence of a context definition, presence of any outer setting definition and the definition, number and domains of outer setting mentioned, definitions of outer context constructs, and any quantitative measures of outer setting. We identified 19 definitions of outer context. Forty-seven (49%) frameworks reported one or more specific constructs of the outer setting. While the outer context domains described in the frameworks varied, the most common domains were policy (n = 24), community (n = 20), partnerships (n = 13), and communications (n = 12). Based on our review of the frameworks, more conceptualization and measurement development for outer context domains are needed. Few measures were found and definitions of domains varied across frameworks. Expanding outer context construct definitions would advance measure development for important factors external to the organizations related to EBI implementation.

There is still a limited understanding of factors external to the implementing organization and their effects on evidence-based intervention adoption, implementation, and outcomes. This scoping study focuses on understanding definitions of context and important factors of outer context found in dissemination and implementation theories, models, and frameworks. We identified 19 definitions of outer context and 47 frameworks or theories that reported one or more specific constructs of the outer setting. Common domains found were policy (n = 25), community (n = 19), partnerships (n = 13), and communications (n = 13). We described gaps related to the current knowledge of outer context factors and offer future research directions. We recommended the development of outer context-specific scales, further exploration of the culture domain, and testing of how these outer context factors impact implementation outcomes.

Racial Distribution of Neighborhood-Level Social Deprivation in a Retrospective Cohort of Prostate Cancer Survivors.

Background: A better understanding of neighborhood-level factors' contribution is needed in order to increase the precision of cancer control interventions that target geographic determinants of cancer health disparities. This study characterized the distribution of neighborhood deprivation in a racially diverse cohort of prostate cancer survivors. Methods: A retrospective cohort of 253 prostate cancer patients who were treated with radical prostatectomy from 2011 to 2019 was established at the Medical University of South Carolina. Individual-level data on clinical variables (e.g., stage, grade) and race were abstracted. Social Deprivation Index (SDI) and Healthcare Professional Shortage (HPS) status was obtained from the Robert Graham Center and assigned to participants based on their residential census tract. Data were analyzed with descriptive statistics and multivariable logistic regression. Results: The cohort of 253 men consisted of 168 white, 81 African American, 1 Hispanic and 3 multiracial men. Approximately 49% of 249 men lived in areas with high SDI (e.g., SDI score of 48 to 98). The mean for SDI was 44.5 (+27.4), and the range was 97 (1−98) for all study participants. African American men had a significantly greater likelihood of living in a socially deprived neighborhood compared to white men (OR = 3.7, 95% C.I. 2.1−6.7, p < 0.01), while men who lived in areas with higher HPS shortage status were significantly more likely to live in a neighborhood that had high SDI compared to men who lived in areas with lower HPS shortages (OR = 4.7, 95% C.I. = 2.1−10.7, p < 0.01). African Americans had a higher likelihood of developing biochemical reoccurrence (OR = 3.7, 95% C.I. = 1.7−8.0) compared with white men. There were no significant association between SDI and clinical characteristics of prostate cancer. Conclusions: This study demonstrates that SDI varies considerably by race among men with prostate cancer treated with radical prostatectomy. Using SDI to understand the social environment could be -particularly useful as part of precision medicine and precision public health approaches and could be used by cancer centers, public health providers, and other health care specialists to inform operational decisions about how to target health promotion and disease prevention efforts in catchment areas and patient populations.

Lessons Learned from the Pilot Phase of a Population-Wide Genomic Screening Program: Building the Base to Reach a Diverse Cohort of 100,000 Participants.

Background and Objectives: Genomic information is increasingly relevant for disease prevention and risk management at the individual and population levels. Screening healthy adults for Tier 1 conditions of hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia using a population-based approach can help identify the 1−2% of the US population at increased risk of developing diseases associated with these conditions and tailor prevention strategies. Our objective is to report findings from an implementation science study that evaluates multi-level facilitators and barriers to implementation of the In Our DNA SC population-wide genomic screening initiative. Methods: We established an IMPACTeam (IMPlementAtion sCience for In Our DNA SC Team) to evaluate the pilot phase using principles of implementation science. We used a parallel convergent mixed methods approach to assess the Reach, Implementation, and Effectiveness outcomes from the RE-AIM implementation science framework during the pilot phase of In Our DNA SC. Quantitative assessment included the examination of frequencies and response rates across demographic categories using chi-square tests. Qualitative data were audio-recorded and transcribed, with codes developed by the study team based on the semi-structured interview guide. Results: The pilot phase (8 November 2021, to 7 March 2022) included recruitment from ten clinics throughout South Carolina. Reach indicators included enrollment rate and representativeness. A total of 23,269 potential participants were contacted via Epic's MyChart patient portal with 1976 (8.49%) enrolled. Black individuals were the least likely to view the program invitation (28.9%) and take study-related action. As a result, there were significantly higher enrollment rates among White (10.5%) participants than Asian (8.71%) and Black (3.46%) individuals (p < 0.0001). Common concerns limiting reach and participation included privacy and security of results and the impact participation would have on health or life insurance. Facilitators included family or personal history of a Tier 1 condition, prior involvement in genetic testing, self-interest, and altruism. Assessment of implementation (i.e., adherence to protocols/fidelity to protocols) included sample collection rate (n = 1104, 55.9%) and proportion of samples needing recollection (n = 19, 1.7%). There were no significant differences in sample collection based on demographic characteristics. Implementation facilitators included efficient collection processes and enthusiastic clinical staff. Finally, we assessed the effectiveness of the program, finding low dropout rates (n = 7, 0.35%), the identification of eight individuals with Tier 1 conditions (0.72% positive), and high rates of follow-up genetic counseling (87.5% completion). Conclusion: Overall, Asian and Black individuals were less engaged, with few taking any study-related actions. Strategies to identify barriers and promoters for the engagement of diverse populations are needed to support participation. Once enrolled, individuals had high rates of completing the study and follow-up engagement with genetic counselors. Findings from the pilot phase of In Our DNA SC offer opportunities for improvement as we expand the program and can provide guidance to organizations seeking to begin efforts to integrate population-wide genomic screening.

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.

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.

Medicaid Expansions: Probing Medicaid's Filling of the Cancer Genetic Testing and Screening Space.

Cancer is the third largest source of spending for Medicaid in the United States. A working group of the American Public Health Association Genomics Forum Policy Committee reviewed 133/149 pieces of literature addressing the impact of Medicaid expansion on cancer screening and genetic testing in underserved groups and the general population. Breast and colorectal cancer screening rates improved during very early Medicaid expansion but displayed mixed improvement thereafter. Breast cancer screening rates have remained steady for Latina Medicaid enrollees; colorectal cancer screening rates have improved for African Americans. Urban areas have benefited more than rural. State programs increasingly cover BRCA1/2 and Lynch syndrome genetic testing, though testing remains underutilized in racial and ethnic groups. While increased federal matching could incentivize more states to engage in Medicaid expansion, steps need to be taken to ensure that they have an adequate distribution of resources to increase screening and testing utilization.

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.