Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.

PURPOSE: To better understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. METHODS: Longitudinal physician claims data after diagnostic sequencing were obtained for patients aged 0 to 21 years with neurologic, cardiac, and immunologic disorders with suspected genetic etiology. We assessed specialist consultation rates prompted by primary diagnostic results, as well as marginal effects on overall 18-month physician services and costs. RESULTS: We included data on 857 patients (median age: 9.6 years) with a median follow-up of 17.3 months after disclosure of diagnostic sequencing results. The likelihood of having ≥1 recommendation for specialist consultation in 155 patients with positive findings was high (72%) vs 23% in 443 patients with uncertain findings and 21% in 259 patients with negative findings (P < .001). Follow-through consultation occurred in 30%. Increases in 18-month physician services and costs following a positive finding diminished after multivariable adjustment. Also, no significant differences between those with uncertain and negative findings were demonstrated. CONCLUSION: Our study did not provide evidence for significant increases in downstream physician services and costs after returning positive or uncertain diagnostic sequencing findings. More large-scale longitudinal studies are needed to confirm these findings.

Creating accessible Spanish language materials for Clinical Sequencing Evidence-Generating Research consortium genomic projects: challenges and lessons learned.

Aim: To increase Spanish speakers' representation in genomics research, accessible study materials on genetic topics must be made available in Spanish. Materials & methods: The Clinical Sequencing Evidence-Generating Research consortium is evaluating genome sequencing for underserved populations. All sites needed Spanish translation of recruitment materials, surveys and return of results. Results: We describe our process for translating site-specific materials, as well as shared measures across sites, to inform future efforts to engage Spanish speakers in research. Conclusion: In translating and adapting study materials for roughly 1000 Spanish speakers across the USA, and harmonizing translated measures across diverse sites, we overcame numerous challenges. Translation should be performed by professionals. Studies must allocate sufficient time, effort and budget to translate and adapt participant materials.

Lay abstract To encourage Spanish speakers to join research studies, researchers need to give them written study materials they can easily read and understand. Our study of genome sequencing adapted and translated study materials for use by Spanish speakers across the USA. We describe our process and share our lessons to help others engage Spanish speakers in research. Studies that want to reach Spanish speakers must plan to spend time, effort and money to produce consistent, accurate Spanish-language study materials.

Vision Voice: A Multimedia Exploration of Diabetes and Vision Loss in East Harlem.

BACKGROUND: East Harlem, New York, is a community actively struggling with diabetes and its complications, including vision-related conditions that can affect many aspects of daily life. OBJECTIVES: Vision Voice was a qualitative community-based participatory research (CBPR) study that intended to better understand the needs and experiences of people living with diabetes, other comorbid chronic illnesses, and vision loss in East Harlem. METHODS: Using photovoice methodology, four participants took photographs, convened to review their photographs, and determined overarching themes for the group's collective body of work. LESSONS LEARNED: Identified themes included effect of decreased vision function on personal independence/mobility and self-management of chronic conditions and the importance of informing community members and health care providers about these issues. The team next created a documentary film that further develops the narratives of the photovoice participants. CONCLUSIONS: The Vision Voice photovoice project was an effective tool to assess community needs, educate and raise awareness.

A partnered approach for structured observation to assess the environment of a neighborhood with high diabetes rates.

BACKGROUND: The Communities IMPACT Diabetes Center uses partnered methods to address diabetes-related conditions among African Americans and Latinos in East Harlem, New York. OBJECTIVES: To describe a novel, partnered approach that integrates simultaneous structured observation by community and academic partners with "on-the-spot" resolution of differences to collect baseline data regarding the built and food environments in a two census tract area of East Harlem and present select findings. METHODS: We designed an environmental assessment to explore characteristics of the environment related to walking and eating. We paired community and academic partners to assess each block, resolve any differences, and report results. Nearly one year later, we surveyed the data collectors and analyzed responses using standard qualitative methods. RESULTS: Key themes included connection to and characteristics of the community; interactions with partners; surprises and learning, and aspects of data collection. All but the first were common to academic and community partners. Relationships between partners were generally amiable. Both community-"I think it was very helpful, we made sure neither of us made mistakes, and helped each other when we could"-and academic-"I really enjoyed it . . . I learned a lot about the areas I surveyed"-partners were complimentary. Community partners' strengths included local knowledge of the community, whereas academic partners' focus on adherence to the specifications was critical. Structured observation identified many sidewalks in disrepair or obstructed, few benches, and highly variable times allocated for pedestrians to cross at cross walks. CONCLUSIONS: The partnered data collection was both successful and formative, building additional relationships and further capacity for ongoing partnership. Community partners saw their community in a new way, seeing, "little things that are important but people don't pay attention to." Structured observations added to our understanding of how an environment may contribute to diabetes.

A community-engaged approach to select geographic areas for interventions to reduce health disparities.

BACKGROUND: While neighborhood-based approaches to eliminate health disparities are on the rise, there is little guidance on how researchers may engage with community partners to select geographic areas for interventions to reduce health disparities. We aimed to identify a small geographic area to target interventions to improve diabetes-related outcomes. OBJECTIVES: We describe lessons learned from a community-engaged approach to specify the geographic area of focus. METHODS: A community-academic partnership of more than 20 organizations collaborated to develop and employ a 5-stage process to specify a target area for diabetes preventions and control activities. LESSONS LEARNED: A coalition with local knowledge and ties to the community can develop criteria and direct a process leading to selection of a geographic area, increased research capacity, and strengthened relationships among partners. CONCLUSION: A participatory approach can be effective in defining a geographic area for targeting interventions to reduce health disparities.