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.

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.

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).

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.

Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics.

Clinical genetics and genomics will exert their greatest population impact by leveraging the rich knowledge of human behavior that is central to the discipline of behavioral medicine. We contend that more concerted efforts are needed to integrate these fields synergistically, and accordingly, we consider barriers and potential actions to hasten such integration.

Exploring the Role of Community Health Workers in Improving the Collection of Family Health History: A Pilot Study.

Community health workers (CHWs) have been successful partners in addressing public health and health care challenges but have yet to be engaged in efforts to promote family health history (FHH) collection. FHH information is a key factor in determining disease risk and supporting screening and prevention across multiple diseases. The collection of FHH information could be facilitated by the existing cadre of CHWs already working alongside clients and families. In this qualitative study, we interviewed 30 CHWs from Georgia to better understand the current level of knowledge about FHH, perceptions of how FHH collection aligns with their role, and barriers and facilitators in order to support more active involvement of CHWs in FHH collection. Interviews were completed, transcribed, and double coded by three study team members. More than half of CHWs reported knowing their own FHH information. CHWs showed a strong interest and support for collecting FHH in their job, despite limited current engagement in this role. CHWs acknowledged the collection of FHH as being an opportunity to empower clients to have conversations with their providers. To better support this work, CHWs requested training in using and integrating FHH tools into their workflow and support in communicating about FHH with their clients. Our findings suggest that with support and training, CHWs are uniquely positioned to improve FHH collection among their client base. Ultimately, improving FHH collection skills among the population could allow for better integration of risk-stratified approaches that are informed by FHH information for the prevention, management, and treatment of disease.

A thematic analysis of health information technology use among cancer genetic counselors.

As precision medicine becomes a mainstay in health care, the use of health information technology (IT) platforms will play an important role in the delivery of services across the cancer care continuum. Currently, there is both limited understanding about perceptions of health IT tools and barriers to their use among cancer genetic counselors. We assessed open-ended responses from a survey conducted among 128 board-certified cancer genetic counselors in the United States. We evaluated the utility of ten health IT tools and perceived barriers to adoption. Responses about characteristics of health IT tools that influence current use (i.e., technology-specific challenges) were deductively analyzed using the diffusion of innovations (DOI) characteristics. Responses about cancer genetic counselors' perceived challenges to adopting health IT tools (i.e., discipline-specific challenges) were inductively coded using a thematic approach. DOI innovation characteristics included mixed perceptions about the relative advantage, complexity, compatibility, trialability, and observability of tools based on the type of tool and perceived end-user. One-third of participants indicated that they were considering adopting or switching health IT tools. Common barriers to adoption included no perceived need for change, lack of organizational infrastructure, cost, and lack of decision-making power. Our findings indicate that addressing barriers to use and adoption of health IT may allow for expansion of these tools among cancer genetic counselors. Integrating health IT is critical for enhancing cancer genetic counselors' capacity to address patient needs and realizing the potential of precision medicine.

Hepatitis B Testing Among Vietnamese in Metropolitan Atlanta: The Role of Healthcare-Related and Acculturation-Related Factors.

BACKGROUND: Compared to other racial/ethnic groups, U.S. Vietnamese have higher Hepatitis B infection prevalence, which is a major liver cancer risk factor. Increased testing could reduce this disparity. It is critical to understand subgroups of U.S. Vietnamese least likely to have been tested for Hepatitis B and design appropriate interventions. We examined healthcare- and acculturation-related factors influencing Hepatitis B testing among U.S. Vietnamese. METHODS: Survey data of 100 U.S. Vietnamese attending health fairs/programs hosted by community-based organizations (2017-2018) were analyzed. Healthcare-related predictors included insurance and past 2-year checkup. Acculturation-related predictors included Vancouver Acculturation Index, percentage of lifetime in the U.S., and Vietnamese and English fluency. We conducted a multiple logistic regression controlling for age, sex, education, and household income. RESULTS: The sample was an average 37.5 years old and 61.6% female. Insurance coverage was reported by 83.0%. Average percentage of lifetime in the U.S. was 56.8%. Seventy percent reported having received Hepatitis B testing. Hepatitis B testing was associated with health insurance (aOR = 2.61, 95% CI = [1.05-6.47], p = .04) but not any acculturation-related predictors CONCLUSION: Improving insurance coverage and options can be a strategy to increase Hepatitis B testing among U.S. Vietnamese. More education regarding Hepatitis B (e.g., via community-based, culturally-appropriate, lay health worker-led programs) is needed to ensure that individuals are aware of their testing status and pursue appropriate healthcare decisions.

Evaluation and comparison of hereditary Cancer guidelines in the population.

BACKGROUND: Family health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. Comparing different CPGs used to evaluate a common set of FHx provides insight into how well the CPGs perform, the extent of agreement across guidelines, and how well they identify patients who should consider a cancer genetic consultation. METHODS: We compare the American College of Medical Genetics and Genomics (ACMG) and the National Comprehensive Cancer Networks (NCCN) (2019) CPG criteria for FHx collected by a chatbot and evaluated by ontologies and web services in a previous study. Collected FHx met criteria from seven groups: Gene Mutation, Breast and Ovarian, Li-Fraumeni syndrome (LFS), Colorectal and Endometrial, Relative Meets Criteria, ACMG Only Criteria, and NCCN Testing. CPG Criteria were coded and matched across 12 ACMG sub-guidelines and 6 NCCN sub-guidelines for comparison purposes. RESULTS: The dataset contains 4915 records, of which 2221 met either ACMG or NCCN criteria and 2694 did not. There was significant overlap-1179 probands met both ACMG and NCCN criteria. The greatest similarities were for Gene Mutation and Breast and Ovarian criteria and the greatest disparity existed among Colorectal and Endometrial criteria. Only 156 positive gene mutations were reported and of the 2694 probands who did not meet criteria, 90.6% of them reported at least one cancer in their personal or family cancer history. CONCLUSION: Hereditary cancer CPGs are useful for identifying patients at risk of developing cancer based on FHx. This comparison shows that with the aid of chatbots, ontologies, and web services, CPGs can be more efficiently applied to identify patients at risk of hereditary cancer. Additionally this comparison examines similarities and differences between ACMG and NCCN and shows the importance of using both guidelines when evaluating hereditary cancer risk.

Adherence to Mammography and Pap Screening Guidelines Among Medically Underserved Women: the Role of Family Structures and Network-Level Behaviors.

Poor adherence to screening recommendations is an important contributing factor to disparities in breast and cervical cancer outcomes among women in the USA. Screening behaviors are multifactorial, but there has been limited focus on how family network beliefs and behaviors influence individual's likelihood to complete screening. This research aims to fill this gap by evaluating the role of family network composition and screening behaviors on women's likelihood to adhere to mammogram and pap screening recommendations. We used an ego network approach to analyze data from 137 families and their networks. Primary outcomes were whether an individual had received a mammogram in the past year and whether she had received a pap screening in the past 3 years. Network-level predictors included network composition (size of network, average age of network members, satisfaction with family communication) and network screening behaviors. We conducted multivariable logistic regressions to assess the influence of network-level variables on both mammogram and pap smears, adjusting for potential individual-level confounders. Each network had an average age of 47.9 years, and an average size of 3.05 women, with the majority of members being sisters (57.7%). We found differences in network screening behaviors by race, with Arab networks being less likely to have completed self-breast exams (OR = 0.21, 95%CI = 0.05-0.76, p = 0.02), ever a gotten pap screen (OR = 0.11, 95%CI = 0.01-0.85, p = 0.04), and gotten pap screening in the last 3 years (OR = 0.31, 95%CI = 0.10-0.99, p = 0.04) compared with African American networks. Network screening behaviors also strongly influenced the likelihood of an individual completing a similar screening behavior. This analysis sheds light on family network characteristics that influence screening behaviors among medically underserved women. These findings support the development and dissemination of screening interventions among female's family networks.