Biomedical subjects

Cynthia A Prows

Publications and source records attributed to Cynthia A Prows.

2 recordsLinked to original sources

PubMed2026

Sequencing and health data resource of children of African ancestry.

PURPOSE: Individuals who self-report as Black or African American are historically underrepresented in genome-wide studies of disease risk, a disparity particularly evident in pediatric disease research. To address this gap, Cincinnati Children's Hospital Medical Center (CCHMC) established a biorepository and developed a comprehensive DNA sequencing resource including 15,684 individuals who self-identified as African American or Black and received care at CCHMC. METHODS: Participants were enrolled through the CCHMC Discover Together Biobank and sequenced. Admixture analyses confirmed the genetic ancestry of the cohort, which was then linked to electronic medical records. RESULTS: Genome-wide genotypes from common variants accompanied by medical record-sourced data are available through the Genomic Information Commons. This data set performs well in genetic studies. Specifically, we replicated known associations in sickle-cell disorder (HBB, HGNC:4827, P = 4.05 × 10-148), anxiety (PLAAT3, HGNC:17825, P = 6.93 × 10-9), and asthma (PCDH15, HGNC:14674, P = 5.6 × 10-10), while also identifying novel loci associated with anxiety, asthma, and asthma severity. CONCLUSION: We present the acquisition and quality of genetic and disease-associated data and present an analytical framework for using this resource. In partnership with a community advisory council, we have codeveloped a valuable framework for data use and future research.

Adolescent↗

PubMed2025

Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation.

PURPOSE: To investigate the complexities of covering study-recommended medical care costs for individuals (in order to prevent lack of adherence due to financial reasons), which have received little attention. METHODS: We explored the deliberations, decisions, and challenges faced by the Electronic Medical Records and Genomics (eMERGE) Network during the implementation of a genomic research project recommending clinical care based on high-risk results defined largely by polygenic risk scores. Two surveys were disseminated to eMERGE sites: to identify preferences about payment for specific care recommendations (survey 1) and to understand the operational processes of covering medical care costs (survey 2). RESULTS: Paying for a subset of care recommendations for the funded study duration was identified as the most feasible approach for covering medical care costs for participants who received high-risk genomic results. Each eMERGE site, by necessity, used diverse approaches to pay for medical care costs. CONCLUSION: eMERGE researchers balanced competing concerns about bias, equity, study design, regulatory compliance, and cost in designing a unified approach to cover some of the recommended medical care costs in the study. Many implementation challenges were encountered. Findings can inform researchers and regulatory bodies about the implications and complications of covering medical care costs in translational research studies focused on prevention.

Humans↗