Genetic Testing and Counselling for Hereditary Renal Carcinoma: What Do Clinicians Need to Know?

Background and objective: Hereditary renal cell carcinoma (H-RCC) accounts for 5–8% of kidney cancers and has important clinical implications. However, H-RCC is frequently underdiagnosed, and genetic counselling is underutilised in clinical practice. This review provides an overview of the main H-RCC syndromes and offers a step-by-step clinical guide to support clinicians in the identification, counselling, and management of affected individuals. Methods: A nonsystematic search of PubMed/MEDLINE was performed in June 2024 and updated in February 2025, covering guidelines, consensus statements, and original studies. Additional sources were identified via manual reference screening. Key findings and limitations: Although H-RCC syndromes may present with overlapping features, they vary significantly in genetics, histology, and aggressiveness. While referral criteria for genetic testing in RCC are outlined in multiple international guidelines, certain criteria are still debated. Genetic counselling is essential both before and after testing. Pretest counselling ensures informed consent and helps patients to understand the implications of results. Post-test counselling discusses medical and psychological implications, and guides cascade testing for at-risk relatives. Mainstream genetic testing led by clinicians other than genetic specialists is increasingly adopted, but adequate training and structured collaboration with genetics services are required. Clinical management differs across syndromes: while aggressive entities such as FH-associated RCC warrant prompt surgical intervention, others such as clear-cell RCC associated with von Hippel-Lindau disease benefit from active surveillance, with nephron-sparing approaches typically recommended when the largest tumour reaches a threshold of 3 cm to balance oncological control and renal preservation. The main limitation of this review is its nonsystematic design. Conclusions and clinical implications: Genetic assessment is a key component of RCC management. Enhancement of clinician awareness and fostering of multidisciplinary collaboration are key to improving care and outcomes. Patient summary: For patients with kidney cancer, genetic risk assessment and testing are crucial for improving patient care, guiding surveillance, and offering tailored treatments to those who might have a hereditary form of cancer. Collaboration among different specialists is vital to provide the best care for patients with hereditary kidney cancer syndromes.