Nephrogenetics and Nephrodiagnostics

Abstract

Recent technological developments have revolutionized contemporary molecular diagnostics, while next-generation sequencing (NGS) for DNA analysis has become an integral part of delivery of modern medicine. Nephrogenetics is a field that has been benefited tremendously by these advances due to the genetic complexity of many monogenic nephropathies that require demanding approaches in delineating the gene at fault, differentiating through genetic heterogeneity and overlapping phenotypes. The highly polymorphic nature of the human genome coupled to the enormous data generated by NGS platforms requires perfect knowledge of the molecular biology of the genetic disease under study as well as further investigations and tools before identifying with certainty the genetic defect. Only then can one use a specific finding for offering a diagnostic or prognostic information and therapy to the benefit of the patient and perhaps other family members. The combination of genetic data in the form of primary mutations, modifier genetic variants, and relevant pharmacogenetic information will soon enable precision medicine to become reality for more monogenic kidney disorders. Examples of renal glomerulopathies and tubulointerstitial diseases are discussed in this review.