Chronic kidney disease constitutes a major public health challenge, given the markedly increased risk morbidity and all-cause mortality. The etiology of a significant percentage of chronic kidney disease remained undetermined due to the silent clinical presentation and limitations of traditional diagnostics. Studies have shown that monogenic causes are responsible for a significant proportion of these chronic kidney disease of unknown etiology. Establishing a genetic diagnosis is vital to guide management, inform prognosis, including the risk of post-transplant recurrence, the risk of occurrence in offspring and enable cascade testing to identify other affected family members early. Our local study showed that nearly 10% of patients with chronic kidney disease of unknown etiology harbour pathogenic variants and Alport syndrome is the most common genetic diagnosis. Genetic testing is also important in patients with known monogenic kidney disease. For example, in patients with Autosomal Dominant Polycystic Kidney Disease, genetic data can provide prognostic information, allow early diagnosis when imaging is yet to be revealing and help to identify suitable living-related kidney donor. With rapid advancement in sequencing technologies at an affordable cost, more and more genetic diagnostics are being integrated into daily practice. The Genetic Kidney Disease Clinic at Queen Mary Hospital helps patients with suspected monogenic kidney disease with genetic evaluation and cascade testing. Pre-test genetic counselling highlighting the indication of testing, potential benefits and risks is important to guide informed decision-making. A multi-disciplinary team is instrumental to the correct interpretation of genetic testing result in complicated cases. Last but not least, nephrologists play an important role in identifying patients who may benefit from early genetic testing.
