Violette Philippe D, Kamel-Reid Suzanne, Graham Gail E, Reaume M Neil, Jewett Michael A, Care Melanie, Basiuk Joan, Pautler Stephen E
Division of Urology, Department of Surgery, Schulich School of Medicine & Dentistry, Western University, London, ON;
Molecular Diagnostics, Department of Pathology, University Health Network, Toronto, ON;
Can Urol Assoc J. 2014 Nov;8(11-12):E832-40. doi: 10.5489/cuaj.2415.
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.
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.
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.
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.
遗传性肾细胞癌（HRCC）的治疗需要多学科方法，可能涉及医学肿瘤学家、遗传学家、遗传咨询师和泌尿科医生。我们调查的目的是获取有关加拿大HRCC基因检测的使用情况和感知重要性的当前代表性信息。
与加拿大各自的协会合作，向加拿大医学肿瘤学家、遗传学家、遗传咨询师和泌尿科医生提供了一项基于网络的自我管理调查。该调查是通过与加拿大肾癌研究网络协商的迭代过程创建的，包含定量和定性部分。该调查旨在进行探索性研究，并对各地区的结果进行比较。
总体回复率较低（6.6%）。在受访者中，分别有42%、33%、19%、5%是遗传咨询师、泌尿科医生、医学肿瘤学家和医学遗传学家。在受访者中，62.7%将他们的实践描述为学术性的，37.3%将其描述为非学术性的。非学术受访者转诊进行遗传咨询的频率往往低于学术受访者（48.6%对67.2%）。大多数受访者认为有针对HRCC的基因检测（82.8%），尽管47.7%不知道有哪些检测可用。这一观察结果在各省都是一致的。在受访者中，对冯·希佩尔-林道综合征的检测优先级最高。提供者知识有限、临床指南、机构资金、获取途径以及各学科之间协调不佳被认为是检测的障碍。
有必要提高提供者对HRCC基因检测的知识。这些发现支持制定实践指南和国家战略，以改善专家之间的协调以及获得遗传学服务的机会。本研究的局限性包括调查回复率低，这使得无法按地理区域或受访者专业进行推断性分析。
