Layana Al-Halbouni, Grace W Ryan, Sonia Radu, Michelle Spano, Reshma Sabnani, Wanda Phipatanakul, Lynn B Gerald, Arvin Garg, Lori Pbert, Michelle Trivedi
Exploring the relationship between school-supervised asthma therapy and social determinants of health in pediatric asthma care
Pediatric pulmonology
childhood cancer predisposition chicap syndromes increasingly recognized contributing factors childhood cancer development yet due variable availability germline testing many children chicap might go undetected today report results nationwide prospective chicap study investigated diagnostic yield clinical impact integrating germline wholegenome sequencing gwgs tumor sequencing systematic phenotyping children solid tumors gwgs performed 309 children diagnosis cns n 123 40 extracranial n 186 60 solid tumors analyzed diseasecausing variants 189 known cancer predisposing genes tumor sequencing data available 74 227309 patients addition standardized clinical assessment underlying predisposition performed 95 293309 patients prevalence chicap diagnoses 11 35309 69 2435 unknown inclusion diagnostic yield 8 24298 secondhit andor relevant mutational signature observed 1921 90 tumors informative data chicap diagnoses prevalent among patients retinoblastomas 50 612 highgrade astrocytomas 37 616 noncancer related features 23 2088 2 positive chicap criteria 28 2279 chicap diagnoses autosomal dominant 80 2835 patients yet confirmed de novo 64 1828 35 chicap findings resulted tailored surveillance 86 3035 treatment recommendations 31 1135 overall results demonstrate systematic phenotyping combined genomicsbased diagnostics chicap children solid tumors feasible largescale clinical practice critically guides personalized care sizable proportion patients study supported swedish childhood cancer fund ministry health social affairs