Awareness and perspectives on hereditary renal cell carcinoma and genetic testing in clinical practice: a multi‐national survey

Identifying hereditary RCC is essential for implementing tailored surveillance programmes, guiding personalised management, and enabling cascade testing for early identification of at-risk family members and prenatal genetic management [1]. Yet, genetic testing remains underutilised in clinical practice [2]. Several barriers at individual, provider, healthcare system, and societal levels have been shown to hinder its effective implementation in clinical practice. In addition, clinical guidelines on this topic are based on limited, often low-quality evidence, and significant gaps and controversies remain regarding reliable referral criteria [2]. From a clinical standpoint, physicians may also face challenges in identifying hereditary RCC, as incomplete family histories, de novo variants, and subtle clinical features can be misleading [3]. The rising demand for genetic testing, combined with the limited capacity in genetics departments, has led to the increasing adoption of mainstream pathways where non-genetic healthcare professionals provide counselling and order tests [4]. However, while specialist physicians might have the expertise to integrate genetic test results into treatment decisions, they may face unfamiliar situations. Recent studies in other cancer settings have demonstrated provider knowledge gaps in discussing hereditary cancer risks, choosing the appropriate genetic tests, interpreting results, and communicating this information [5]. Similar challenges in the RCC setting have not been well characterised; in particular, little is known about clinicians’ attitudes towards hereditary RCC syndromes, genetic risk assessment and counselling, as well as their perceptions of prior training and educational needs [6]. To fill this gap, we conducted a prospective, cross-sectional survey to assess awareness, attitudes, and practical experience with genetic counselling for hereditary RCC among consultant urologists, medical oncologists, and radiation oncologists involved in renal cancer care. The topics and measures covered by the questions were informed by findings from a review recently published by our group [3]. The survey was distributed via the European Association of Urology (EAU) Young Academic Urologists (YAU) Renal Cancer Working Group between April and May 2025. Each YAU-RCC member working in a tertiary referral centre was tasked with distributing the survey among specialist colleagues involved in the genitourinary multidisciplinary team, including urologists, oncologists, and radiation oncologists. Residents were excluded from survey participation. Each of the 30 full and associate YAU-RCC members was asked to share the survey with a maximum of 10 colleagues experienced in RCC management. The survey comprised four sections: (i) respondent demographics, (ii) working institution, (iii) attitude toward genetic risk assessment and testing, and (iv) training needs. Participation was voluntary, and responses were anonymous. The survey link was shared only with the intended sample. Data collection and reporting followed the Checklist for Reporting Results of Internet E-Surveys (CHERRIES) [7]. For categorical variables, frequencies and percentages are reported. Data were analysed using R-software environment (version 4.4.1; R Foundation for Statistical Computing, Vienna, Austria). A total of 300 individuals were invited to participate, with 208 completing the survey (69% response rate) across eight countries. Half of the respondents (105 [51%]) were aged 30–35 years. Most were consultant physicians, treating RCC in <50% of their clinical workload (113 [54%]), while 18% (38) of them managed RCC in over half of their practice, and 3% (six) were fully dedicated to RCC care. European countries contributed the majority of participants (189 [91%]), most of whom were based in Italy (115 [55%]), followed by France (24 [11%]), Turkey (24 [11%]), the UK (14 [6.7%]), Belgium (seven [3.4%]), and Spain (five [2.4%]). Additional respondents were from China (15 [7.2%]) and the United States (four [1.9%]). Most respondents worked in academic institutions (149 [72%]) as urologists (153 [74%]) and were based in RCC referral centres (186 [90%]). Regarding clinical experience with hereditary RCC, 57% (118) had treated <10 patients with a hereditary RCC syndrome in the past 5 years, while only 11% (24) had treated >20 cases. About half (104 [50%]) had referred between five and 10 patients for genetic testing over the same period, and only 12% (25) had referred >20 patients. When asked about their knowledge of hereditary RCC, over half of the respondents (107 [51%]) reported being only superficially aware. Notably, 61% (102) consulted national guidelines on hereditary RCC, while 9.6% (20) were not aware of them. Regarding clinical features prompting genetic evaluation, age was considered significant by 37% (77) of participants, while 28% (59) considered it relevant only in the presence of additional hereditary RCC risk factors. Most clinicians (169 [81%]) routinely collected family history at the first consultation, with 42% (88) considering a family history meaningful if a first- or second-degree relative carried a known pathogenic or likely pathogenic variant in a cancer susceptibility gene, and 34% (71) also if at least one first- or second-degree relative had an RCC diagnosis. Other features prompting referral included specific histology features (102 [49%]; notably 30% of the participant were ‘not sure’ whether histology would prompt referral), and bilateral or multifocal tumours (116 [56%]). In all, 49% of respondents reported barriers to genetic testing, mainly due to the lack of financial resources or physician knowledge. Of note, less than half (47%) of responders reported receiving education on hereditary RCC during medical school, increasing to 69% during residency. Nonetheless, satisfaction with training was limited, with over half rating it as insufficient or somewhat insufficient (50.5%), 22% as neutral, and only 28% as sufficient or somewhat sufficient. A majority expressed a desire for dedicated education on hereditary RCC, with 51% of respondents rating it as very helpful, 25% as somewhat helpful, and 11% as extremely helpful, preferably delivered in structured sessions during national and international meetings. Key findings from the study are summarised in Fig. 1. Addressing these gaps through specific guidelines and targeted education could enhance early diagnosis, improve patient and family care, and embed genetic risk assessment as a core component of RCC management care. This survey is not devoid of limitations: first, it was distributed via the EAU YAU Renal Cancer Working Group, which may have attracted participants already more engaged or interested in specialised aspects of renal cancer care, including genetics. As a result, awareness of genetic testing may be overestimated compared with the general population of urologists and oncologists. Second, more than half of the respondents were based in Italy (55.3%), and the majority overall came from European academic centres. This limits the generalisability of these findings, as practices, resources, and guideline awareness may differ significantly between countries. Third, the study relies on self-reported data, which can be affected by recall bias or subjective interpretation, and should therefore be interpreted with caution. Finally, while surveys provide useful descriptive data, they do not allow a detailed exploration of gaps; qualitative approaches, such as interviews or focus groups, could complement and enrich these findings. Future studies should aim to include larger, more representative populations and use complementary qualitative approaches to deepen understanding. In this setting, it will also be crucial to investigate patient perspectives, as knowledge, attitudes, emotions, and personal or cultural beliefs may influence genetic testing decisions [8]. Despite growing awareness of hereditary RCC, genetic testing is underutilised, and referral practices are inconsistent. Key barriers emerged from our study include limited clinician knowledge, financial issues, and gaps in the traditional education. Targeted training, integrated educational strategies, and decision-support tools are needed to improve patient identification, facilitate timely genetic evaluation, and ensure early diagnosis and effective treatment. None. Riccardo Campi reports honoraria for advisory roles from Telix, MSD, and Nucleix; and travel grants from Telix and MSD. Laura Marandino reports travel and accommodation expenses from Immunocore. The remaining authors have nothing to disclose. Appendix S1. The EAU YAU Renal Cancer Working Group. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.