Genetic Testing in Kidney Cancer Patients: Who, When, and How?

There are more than a dozen recognized hereditary forms of kidney cancer. While classic syndromic forms are readily recognizable, more recently described conditions are subtler because of lower penetrance. Adequate counseling and implementation of risk assessment before or after management are important aspects of clinical care. Germline testing to assess hereditary risk has rapidly evolved thanks to multigene panel testing, which can be performed quickly and at relatively low cost. This review discusses what is known about germline risk assessment, namely which individuals should be tested and when and how, and covers many of the uncertainties around this process. PATIENT SUMMARY: More than a dozen genes have been linked to predisposition to kidney cancer. We review genetic testing in terms of who should be tested and when and how the testing should be carried out. Results from genetic tests can help in tailoring screening and surgical management and in selecting the most suitable chemotherapy.