A recent instance of reporting of variants on the PKD1 gene in autosomal dominant polycystic kidney disease (ADPKD) turned out to be the first of its kind performed in a clinical setting using whole-genome sequencing.57 Jayasinghe and colleagues performed a clinically accredited singleton exome sequencing58 in 204 patients suspected with monogenic kidney disease to identify a molecular diagnosis in 40% of their patients, signifying substantial clinical utility. The gene discussed is PKD1; the disease is autosomal dominant polycystic kidney disease.