Genetic Testing: Considerations for Pediatric Nephrologists

Summary 

With the completion of the Human Genome Project and the associated advances in genomic technologies, clinicians have at their disposal an increasing repertoire of tools to provide accurate and efficient diagnosis, assess disease predisposition and risk factors, and personalize therapeutic management. To date, more than 2,000 human disease genes have been identified, including genes involved in single-gene disorders that disrupt the structure and/or function of the kidney and developing urinary tract. The use of genetic tests for diagnostic purposes increasingly is being integrated into general medical practice and therefore it is important for clinicians to be familiar with the technical approaches and ethical implications of these methods. Here, we provide an overview of the utility and limitations of current genetic tests for diagnosis, prenatal examination, carrier detection, and presymptomatic testing of hereditary disorders, with emphasis on pediatric renal disorders. In addition, we describe new technical advances that are expected to be introduced into clinical practice in the coming years.

Keywords: Genetic testing, genomic medicine, ethics, clinical management