Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.

Polygenic risk scores (PRS) have potential to improve health care by identifying individuals that have elevated risk for common complex conditions. Use of PRS in clinical practice, however, requires careful assessment of the needs and capabilities of patients, providers, and health care systems. The electronic Medical Records and Genomics (eMERGE) network is conducting a collaborative study which will return PRS to 25,000 pediatric and adult participants. All participants will receive a risk report, potentially classifying them as high risk (∼2-10% per condition) for 1 or more of 10 conditions based on PRS. The study population is enriched by participants from racial and ethnic minority populations, underserved populations, and populations who experience poorer medical outcomes. All 10 eMERGE clinical sites conducted focus groups, interviews, and/or surveys to understand educational needs among key stakeholders-participants, providers, and/or study staff. Together, these studies highlighted the need for tools that address the perceived benefit/value of PRS, types of education/support needed, accessibility, and PRS-related knowledge and understanding. Based on findings from these preliminary studies, the network harmonized training initiatives and formal/informal educational resources. This paper summarizes eMERGE's collective approach to assessing educational needs and developing educational approaches for primary stakeholders. It discusses challenges encountered and solutions provided.

A Framework for Pilot Testing Health Risk Video Narratives.

Narrative messages may be superior to didactic messages when providing educational information due to their natural format for information sharing, ability to engage audiences, and engender positive thoughts about the message. Although narrative messages are gaining popularity in health promotion, little guidance exists regarding the development phase. Our team created a psychosocial narrative video intervention grounded in the Health Belief Model to increase breast cancer survivors' attendance at genetic counseling after treatment. Here we report the use of Learner Verification (LV) during an iterative video development process. Using LV, we conducted individual semi-structured interviews with patients and providers, after they viewed the video. Demographic information was analyzed using descriptive statistics, and verbatim interview transcripts were used to conduct a two-phase qualitative content analysis. Patient and provider participants (n = 30) believed the video was attractive, relatable, and informative, and they identified areas for improvement including narrative coherence, changes to text and graphical information, and including more specific information. LV framework elicited audience feedback on the video intervention relevant to theoretical principles of narrative interventions, and highlighted audience preferences. In this study, LV interviews tapped into theoretical constructs of narratives and facilitated the iterative intervention design process.

A Two-Phase Approach to Developing SNAP: an iPhone Application to Support Appointment Scheduling and Management for Women with a BRCA Mutation.

Professional organizations provide surveillance guidelines for BRCA1 and BRCA2 (BRCA) carriers with intact breasts and/or ovaries to facilitate early cancer detection. However, literature indicates adherence to surveillance guidelines is inconsistent at best. Using the Messaging Model for Health Communication Campaigns framework, we undertook a two-phase formative research approach to develop an intervention to promote adherence to surveillance guidelines. Discussion groups identified preferred intervention format and function in phase I. Findings indicated carriers desired a phone application (app) to assist with surveillance management and appointment tracking. Thus, an iPhone app for carriers to track appointments based on published surveillance guidelines was developed. In phase II, we obtained feedback from BRCA carriers via a survey during a prototype demonstration at a regional conference. Participants in phase II wanted reminder capabilities and the ability to add and modify information fields. This feedback informed intervention modifications, resulting in the Scheduling Necessary Advised Procedures (SNAP) iPhone app currently being pilot tested by BRCA carriers throughout the USA.

An iPhone Application Intervention to Promote Surveillance Among Women with a BRCA Mutation: Pre-intervention Data.

Women with BRCA mutations, at significantly increased risk for breast and ovarian cancer, do not consistently adhere to management guidelines due to lack of awareness and challenges tracking appointments. We developed an iPhone application (app) to help BRCA carriers manage their surveillance. We explored baseline awareness and adherence to surveillance guidelines and analytic data from 21 months of app use. Descriptive statistics were calculated on responses (N = 86) to a survey about surveillance awareness and practices. The majority were aware of breast surveillance guidelines, but only one third were aware of ovarian surveillance guidelines. In practice, the majority reported a clinical breast exam within 6 months, just over half reported a mammogram and breast MRI in the last year, and under half reported ovarian surveillance in the last year. Nearly 50% reported difficulty remembering appointments. Although only 69 received access codes, 284 unique users attempted to enter the app, which was visible in the iTunes store but only available to those with a study code. Evaluation of analytic data demonstrated user engagement with study participants accessing the app 427 times over the 21-month time period (range 2-57; mean = 6.28). Results indicate participants were more likely to know screening guidelines than practice them. There was interest in the app and users were engaged, suggesting app value. We will send a follow-up survey after 18 months of app use for additional evaluation and feedback.

Tracking the dissemination of a culturally targeted brochure to promote awareness of hereditary breast and ovarian cancer among Black women.

OBJECTIVE: Black women have a higher rate of BRCA1 and BRCA2 (BRCA) mutations, compared with other populations, that increases their risk for hereditary breast and ovarian cancer (HBOC). However, Black women are less likely to know about HBOC and genetic testing. Based on a request from a community advisory panel of breast cancer survivors, community leaders and healthcare providers in the Black community, our team developed a culturally targeted educational brochure to promote awareness of HBOC among Black women. METHODS: To reach the target population we utilized a passive dissemination strategy. Using Diffusion of Innovations (DOI) as a framework, we traced dissemination of the brochure over a five year period using self-addressed postcards contained inside the brochure that included several open-ended questions about the utility of the brochure, and a field for written comments. Closed-ended responses were analyzed using descriptive statistics and thematic analysis was conducted on the open-ended responses. RESULTS: DOI captured the proliferation of the brochure among Black women across the US. PRACTICE IMPLICATIONS: The use of passive dissemination strategies among pre-existing social networks proved to be a useful and sustainable method for increasing knowledge of HBOC among Black women.

From research to self-reflection: learning about ourselves as academics through a support group's resistance to our intervention.

Purdue University's Center for Healthcare Engineering developed a computer-assisted technology hub (CATHUB) designed to aid individuals with disabilities. Upon realizing the lack of input from the very individuals they were trying to help, Marifran approached the developers of CATHUB and offered to engage a group of amputees to aid in the design and implementation of the hub. In this essay, Courtney and Marifran recount, each from their own perspective, their experiences working with Amputees in Action as participants in their research project. Ultimately the researchers discovered their research agenda was not compatible with the amputees' needs, resulting in enlightened self-reflection by the researchers and abandonment of the research project.