研究肯塔基州儿童脑部和中枢神经系统肿瘤高发相关因素所需的信息学方法和基础设施.

Pediatric brain and central nervous system tumors (PBCNSTs) are the most
common solid tumors and are the leading cause of disease-related death in
US children. PBCNST incidence rates in Kentucky are significantly higher
than in the United States as a whole, and are even higher among Kentucky’s
Appalachian children. To understand and eventually eliminate such
disparities, population-based research is needed to gain a thorough
understanding of the epidemiology and etiology of the disease. 这
multi-institutional population-based retrospective cohort study is designed
to identify factors associated with the high incidence of PBCNST in
Kentucky, leveraging the infrastructure provided by the Kentucky Cancer
Registry, its Virtual Tissue Repository (VTR), and the National Institutes
of Health Gabriella Miller Kids First Data Resource Center (刚果民主共和国).
Spatiotemporal scan statistics have been used to explore geographic
patterns of risk measured by standardized incidence ratios (SIRs) 和 95%
confidence intervals. The VTR is being used to collect biospecimens for the
population-based cohort of PBCNST tissues that are being sequenced by
生物医学数据驱动发现中心 (D3b) at the Children’s
Hospital of Philadelphia (劈) with support from the Kids First DRC. After
adjusting for demographic factors, we assess their potential relationship
to environmental factors. We have identified regions in north-central and
eastern Appalachian Kentucky where children experienced a significant
increased risk of developing PBCNST from 1995-2017 (SIR, 1.48; 95% CI,
1.34-1.62). The VTR has been successful in the collection of a
population-based cohort of 215 PBCNST specimens. Timely establishment of
legal agreements for data sharing and tissue acquisition proved to be
challenging which has been somewhat mitigated by the adoption of national
agreement templates. Coronavirus disease 2019 (COVID-19) severely limited
the generation of sequencing results due to laboratory shutdowns. 然而,
tissue specimens processed before the shutdown indicated that punches were
inferior to scrolls for generating enough quality material for DNA and RNA
extraction. Informatics infrastructures that were developed have
demonstrated the feasibility of our approach to generate and retrieve
molecular results. Our study shows that population-based studies using
historical tissue specimens are feasible and practical, but require
significant investments in technical infrastructures.