Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey

Abstract

Introduction: Treatment of hereditary renal cell carcinoma (HRCC) requires a multidisciplinary approach that may involve medical oncologists, geneticists, genetic counsellors, and urologists. The objective of our survey was to obtain current and representative information about the use and perceived importance of genetic testing for HRCC in Canada. Methods: A self-administered web-based survey was provided to Canadian medical oncologists, geneticists, genetic counsellors, and urologists in collaboration with their respective associations. The survey was created through an iterative process in consultation with the Kidney Cancer Research Network of Canada and contained both quantitative and qualitative components. The survey was designed to be exploratory and results were compared across regions. Results: The overall response was low (6.6%). Of the respondents, 42%, 33%, 19%, 5% were genetic counsellors, urologists, medical oncologists and medical geneticists, respectively. Of the respondents, 62.7% described their practice as academic, and 37.3% described it as non-academic. Non-academic respondents tended to refer for genetic counselling less frequently than academic (48.6% vs. 67.2%). Most respondents believed that genetic testing for HRCC was available (82.8%), although 47.7% did not know which tests were available. This observation was consistent across provinces. Testing for Von Hippel-Lindau syndrome was given the highest priority among respondents. Limited provider knowledge, clinical guidelines, institutional funding, access, and poor coordination between disciplines were cited as barriers to testing. Interpretation: There is a need to increase provider knowledge of genetic testing for HRCC. These findings support the development of practice guidelines and national strategies to improve coordination of specialists and access to genetics services. Limitations of the present study include low survey response which did not allow for inferential analysis by geographic region or respondent specialty.

Application of Hereditary Renal Cell Carcinoma Risk Criteria to a Large Prospective Database

“…Another possibility is a lack of knowledge or access to genetic testing facilities. Barriers to genetic testing for patients with kidney cancer in Canada were assessed by Violette et al [13]. The main barriers were identified as lack of provider knowledge about availability and clinical impact of genetic testing.…”

Ethical principles, challenges and opportunities when conducting genetic counselling for schizophrenia

“…Training in genetic research and genetic counselling needs to be expanded into undergraduate medical and other health professions training programs, to further expand expertise, especially in under-resourced communities. The diversification of training is important especially in under-resourced communities, as the liberty to have standalone genetic counsellors is not a luxury all can afford ( 32 , 33 ) The format of training in South Africa for those who do genetic counselling in psychiatry and schizophrenia, more specifically would also need to be made fit-for-purpose in specific regions. The qualification in South Africa and other African countries has great potential and opportunities for development because it is a relatively young field of specialization—especially in the context of accreditation of fit-for-purpose courses and qualifications.…”

“…Norms need to be developed to address the translation of basic concepts on genetic information into indigenous languages. The maintenance of good quality translation for diverse populations and end-users could be extended beyond a condition such as schizophrenia and psychiatry but could encompass other disciplines within which training and accreditation bodies like the Health Professions Council of South Africa (HPCSA) and similar bodies across the global South and the North, could expand ( 32 ). Such norms can be a basis for guidelines for the setting of minimal information and concepts that need to be covered in patient information and participant information leaflets in the context of genetic counselling or genetic research.…”

Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome

“…A Surveillance, Epidemiology, and End Results Program (SEER) database study identified all patients with a known kidney cancer diagnosis, and found that 24% of patients met ACMG/NSGC genetic referral criteria based on RCC histologic subtypes alone, suggesting that patients are under-referred for genetic counseling 12 . Provider knowledge, accessibility to a genetics unit, possible lack of clinical impact and wait times have been identified as barriers to genetic testing referrals for patients with suspected hereditary RCC amongst Canadian urologists 13 . From a patient perspective, it has been shown that cost of testing in women with breast cancer is an established barrier for undergoing genetic assessment, and therefore patients often decline referral to a geneticist 14 .…”