Ian Hitchcock, Hanna Skrobanski, Elina Matter, Ewen Munro, John Whalen, Joanne Tutein Nolthenius, Alex Crocker-Buque, Amanda Harrington, Delphine Vandenberghe, Sarah Acaster, Kate Williams
A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)
Orphanet journal of rare diseases
knowledge genome sequencing kogs questionnaire recently developed measure knowledge genomic sequencing gs preliminary psychometric data supporting reliability validity aim study test reliability validity kogs larger sample confirm utility cancer setting genetic cancer risk young risc study recruits participants personal history cancer investigate heritable cancer causes future cancer risk using germline gs participants n 261 psychosocial substudy risc completed questionnaire consent risc gs including kogs intolerance uncertainty scale chew health literacy scale items assessing demographic disease variables confirmatory factor analysis cfa cronbach alpha correlational analyses undertaken cfa testing singlefactor model yielded good model fit 2df 243 comparative fit index cfi 097 root mean square error approximation rmsea 007 weighted mean root square wrmr 103 factor loadings items 060 ranged between66 and93 single factor score demonstrated excellent internal consistency 082 kogs scores significantly associated health literacy r 023 p 001 university education t258 453 p 001 medical science background t259 352 p 001 speaking language english home time since diagnosis previous genetic counsellingtesting intolerance uncertainty study confirmed singlefactor structure kogs reliability validity cancer population associations measures health literacy education significant positive expected supporting kogs construct validity previous genetic counselling may sufficient provide specific knowledge gs