Amanda M. Gutierrez

Background: Families’ experiences navigating access to comprehensive pediatric care for children with diagnosed or suspected rare disease (RD) in the Texas Rio Grande Valley (RGV) remain unexamined. We explored factors influencing access to specialty medical care, social services, and community support for families of children with RD in the RGV. Methods: We conducted 25 semi-structured qualitative interviews ( n = 17 English, n = 8 Spanish) with parents of children up to age 18 with undiagnosed RD enrolled in Project GIVE, which provided genetic evaluation and testing to families in the RGV. We generated themes through an iterative inductive coding process using reflexive thematic analysis. Results: Four themes captured parents’ experiences accessing services for their child’s medical care and educational accommodations and family support: (1) service shortages resulted in long waits, care disruptions, and long-distance travel; (2) cumbersome administrative and insurance processes led to delays in receiving services; (3) staff-led care coordination mitigated challenges navigating and communicating across fragmented services; and (4) caregiving imposed emotional strain on families amid unmet psychosocial support needs. The process of accessing medical care was a recursive cycle triggered by family-, clinician-, and insurer-initiated disruptions which required parents to reestablish referrals and scheduling, further compounding barriers. Conclusions: Limited medical and social services in the RGV augmented already considerable financial, logistical, and emotional burdens on families caring for children with RD. Use of digital health platforms to streamline appointment scheduling and medical record access may promote pediatric RD care coordination and continuity and help minimize the recursive cycle of access barriers.

Background: Decision‐making (DM) dynamics between adolescents and young adults (AYAs) with cancer, parents, and oncologists remain underexplored in diverse populations. We examined cancer treatment DM preferences among an ethnically and socioeconomically diverse group of AYAs and their parents. Procedure: We surveyed AYAs with cancer ( n = 75) and their parents ( n = 52) participating in the Texas KidsCanSeq study. Among AYA‐parent pairs, we compared preferred and actual treatment DM roles. We explored associations among DM roles, having pediatric‐to‐adult care transition discussions, and clinical and sociodemographic characteristics. We report AYAs’ and parents’ preferences for involvement in shared decision‐making (SDM) with oncologists about cancer treatment. Results: AYAs’ DM role preferences varied: 44% preferred to equally share DM with parents, 31% preferred AYA‐led DM, and 25% preferred parent‐led DM. Parents who preferred parent‐led DM had younger AYAs than parents who preferred equally shared DM ( p  = 0.011). For actual DM, 48% of AYAs reported DM was equally shared, 24% reported DM was AYA‐led, and 28% reported DM was parent‐led. Most AYAs had their preferred role (73%). AYAs’ actual role did not significantly differ from their own or their parents’ preferences (both p  > 0.05). Approximately half of AYAs reported recent pediatric‐to‐adult care transition discussions. AYAs’ DM preferences and participation in transition discussions did not significantly differ along clinical or sociodemographic characteristics (all p  > 0.05). AYAs and parents perceived high importance across all aspects of SDM with oncologists. Conclusion: In this diverse study population, AYAs desired engagement in treatment DM and SDM. Although specific role preferences varied, opportunities existed to increase discussion around pediatric‐to‐adult care transition.

Including underrepresented population groups in databases and initiatives integral to assessing hereditary cancer risk presents several challenges. Data and knowledge from genome-wide association studies (GWASs) and clinical genomics are based largely on people with predominantly European ancestry. Individuals who do not have this ancestry are under-represented in resources used to make clinical assessments. They are therefore more likely to receive results of “variant of unknown significance” (VUS) from genetic testing. Efforts to broaden representation of population groups have created additional challenges in grouping those with mixed ancestry. Further, the focus on genetics can lead to downplaying the impacts of racism. We describe challenges that must be overcome to include underrepresented population groups, including our insights from our ongoing work within each of 3 population groups that focus on: health care access for heterogeneous Hispanic/Latino populations, engagement with Black, African, and African Diasporic communities, and Indigenous Data sovereignty. Using empirical data derived from population databases, we demonstrate gaps in hereditary cancer gene variant representation. Our interviews with experts in genetic testing and data sharing suggest ways to create inclusive hereditary cancer data resources. The interview data highlight the inequities that have led to underrepresentation, ranging from patient access to research and health services (especially those that are culturally-sensitive), to funding available for professional training and grants to those who belong to underrepresented groups. Our goal is to ensure the realities of how different excluded groups experience genetic testing are not overlooked in the development of policy to address the broad challenge of hereditary cancer gene variant data sharing. There is no one simple solution to making more inclusive hereditary cancer data resources, but there are many opportunities to improve them and better serve these populations.

Purpose: With increased use of genomic testing in cancer research and clinical care, it is important to understand the perspectives and decision-making preferences of adolescents and young adults (AYAs) with cancer and their treating oncologists. Methods: We conducted an interview substudy of the BASIC3 Study, which enrolled newly diagnosed cancer patients n = 12). Interviews were transcribed, deidentified, and analyzed using thematic analysis. Results: YAs cited the possibility of helping others and advancing science as major reasons for their assent to initial study enrollment and their willingness to consent at AOM. YAs thought obtaining informed consent from research participants for study continuation at AOM was a good idea in case they changed their minds or wanted to make their own decisions, and to keep them aware of study activities. There was diversity in what YAs understood and learned from genomic testing: some recalled specific findings, while some remembered minimal information about their results. Oncologists varied in their assessment of adolescents' engagement with the study and understanding of their results. Conclusion: Given the different ways AYAs engage with genomic information, careful assessment of AYAs' diverse communication and decision-making preferences is needed to tailor interactions accordingly.

Given that pediatric genomic sequencing (GS) may have implications for the health and well-being of both the child and family, a clearer understanding of the key drivers of the utility of GS from the family perspective is needed. The purpose of this study is to explore what is important to caregivers of pediatric patients regarding clinical GS, with a focus on family-level considerations. We conducted semi-structured interviews with caregivers (n = 41) of pediatric patients who had been recommended for or completed GS that explored the scope of factors caregivers considered when deciding whether to pursue GS for their child. We analyzed the qualitative data in multiple rounds of coding using thematic analysis. Caregivers raised important family-level considerations, in addition to those specifically for their child, which included wanting the best chance at good quality of life for the family, the ability to learn about family health, the impact on the caregiver’s well-being, privacy concerns among family members, and the cost of testing to the family. We developed a framework of key drivers of utility consisting of four domains that influenced caregivers’ decision making: underlying values, perceived benefits, perceived risks, and other pragmatic considerations regarding GS. These findings can inform measurement approaches that better capture the utility of pediatric GS for families and improve assessments of the value of clinical GS.

The COVID-19 pandemic has brought new urgency to a longstanding problem: the US health system is not well-equipped to accommodate the country’s large limited English proficient (LEP) population in times of national emergency. We examined the landscape of Spanish-language COVID-19 website information compared to information in English provided by health departments of the top 10 cities by population in the USA. For each city, coders evaluated three score measures (amount of information, presentation quality, and ease of navigation) for six content types (general information, symptoms, testing, prevention, vaccines, and live statistics) across six delivery modes (print resources, website text, videos, external links, data visualization, and media toolkits). We then calculated a grand average, combining all cities’ values per score measure for each content type-delivery mode combination, to understand the landscape of Spanish-language information across the country. Overall, we found that, for all cities combined, nearly all content types and delivery modes in Spanish were inferior or non-existent compared to English resources. Our findings also showed much variability and spread concerning content type and delivery mode of information. Finally, our findings uncovered three main clusters of content type and delivery mode combinations for Spanish-language information, ranging from similar to worse, compared to information in English. Our findings suggest that COVID-19 information was not equivalently provided in Spanish, despite federal guidance regarding language access during times of national emergency. These results can inform ongoing and future emergency communication plans for Spanish-preferring LEP and other LEP populations in the USA.