Although renal cell carcinoma (RCC) is believed to have a strong hereditary component, there is a paucity of published guidelines for genetic risk assessment. A panel of experts was convened to gauge current opinions.
A North American multidisciplinary panel with expertise in hereditary RCC, including urologists, medical oncologists, clinical geneticists, genetic counselors, and patient advocates, was convened. Before the summit, a modified Delphi methodology was used to generate, review, and curate a set of consensus questions regarding RCC genetic risk assessment. Uniform consensus was defined as ≥85% agreement on particular questions.
Thirty-three panelists, including urologists (n = 13), medical oncologists (n = 12), genetic counselors and clinical geneticists (n = 6), and patient advocates (n = 2), reviewed 53 curated consensus questions. Uniform consensus was achieved on 30 statements in specific areas that addressed for whom, what, when, and how genetic testing should be performed. Topics of consensus included the family history criteria, which should trigger further assessment, the need for risk assessment in those with bilateral or multifocal disease and/or specific histology, the utility of multigene panel testing, and acceptance of clinician-based counseling and testing by those who have experience with hereditary RCC.
In the first ever consensus panel on RCC genetic risk assessment, 30 consensus statements were reached. Areas that require further research and discussion were also identified, with a second future meeting planned. This consensus statement may provide further guidance for clinicians when considering RCC genetic risk assessment.
The contribution of germline genetics to the development of renal cell carcinoma (RCC) has long been recognized. However, there is a paucity of guidelines to define how and when genetic risk assessment should be performed for patients with known or suspected hereditary RCC. Without guidelines, clinicians struggle to define who requires further evaluation, when risk assessment or testing should be done, which genes should be considered, and how counseling and/or testing should be performed. To this end, a multidisciplinary panel of national experts was convened to gauge current opinion on genetic risk assessment in RCC and to enumerate a set of recommendations to guide clinicians when evaluating individuals with suspected hereditary kidney cancer.
Cancer. 2021 Aug 03 [Epub ahead of print]
Gennady Bratslavsky, Neil Mendhiratta, Michael Daneshvar, James Brugarolas, Mark W Ball, Adam Metwalli, Katherine L Nathanson, Phillip M Pierorazio, Ronald S Boris, Eric A Singer, Maria I Carlo, Mary B Daly, Elizabeth P Henske, Colette Hyatt, Lindsay Middleton, Gloria Morris, Anhyo Jeong, Vivek Narayan, W Kimryn Rathmell, Ulka Vaishampayan, Bruce H Lee, Dena Battle, Michael J Hall, Khaled Hafez, Michael A S Jewett, Christina Karamboulas, Sumanta K Pal, A Ari Hakimi, Alexander Kutikov, Othon Iliopoulos, W Marston Linehan, Eric Jonasch, Ramaprasad Srinivasan, Brian Shuch
Department of Urology, State University of New York (SUNY, Upstate Medical University, Syracuse, New York., Department of Urology, University of California Los Angeles, Los Angeles, California., Department of Medicine, Division of Hematology-Oncology, University of Texas (UT) Southwestern Medical Center, Dallas, Texas., Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland., Department of Surgery, Division of Urology, Howard University Hospital, Washington, District of Columbia., Division of Human Genetics and Translational Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Brady Urological Institute and Department of Urology, Johns Hopkins School of Medicine, Baltimore, Maryland., Indiana University School of Medicine, Indianapolis, Indiana., Section of Urologic Oncology, Rutgers Cancer Institute of New Jersey, New Brunswick, New Jersey., Memorial Sloan Kettering Cancer Center, New York, New York., Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania., Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts., Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania., Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Department of Medicine, Vanderbilt University, Nashville, Tennessee., Department of Oncology, Karmanos Cancer Center/Wayne State University, Detroit, Michigan., Driven To Cure, Silver Spring, Maryland., The Kidney Cancer Research Alliance, Leesburg, Virginia., Department of Surgery, Division of Urology, Fox Chase Cancer Center, Philadelphia, Pennsylvania., Department of Urology, University of Michigan, Ann Arbor, Michigan., Division of Urology, Department of Surgery, Princess Margaret Cancer Center, Toronto, Ontario, Canada., Department of Medical Oncology, City of Hope Comprehensive Cancer Center, Duarte, California., Massachusetts General Hospital Cancer Center, Boston, Massachusetts., The University of Texas MD Anderson Cancer Center, Houston, Texas.