Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Kushani JayasingheZornitza StarkPeter G KerrClara GaffMelissa MartynJohn WhitlamBelinda CreightonElizabeth DonaldsonMatthew HunterAnna JarmolowiczLilian JohnstoneEmma KrzesinskiSebastian LunkeElly LynchKathleen NichollsChirag PatelYael PrawerJessica RyanEmily J SeeAndrew TalbotAlison TrainerRigan TytherleighGiulia ValenteMathew WallisLouise WardropKirsty H WestSusan M WhiteElla WilkinsAndrew J MallettCatherine QuinlanPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
In this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design.