Participants on the panel represented a wide range of disciplines including urologists (40%), medical oncologists (36%), genetic counselors (15%), clinical geneticists (3%), and other (6%), including patient advocates. The average participant had been in practice for over 13 years. 70% of participants had significant experience, recommending genetic risk assessment for 20 or more patients per year. The majority of participants (70%) order their own genetic testing.
The main questions the panel sought to answer are listed below. Uniform consensus was defined as minimum agreement of 85% across participants.
- Who should be testing?
- When should genetic risk assessment be initiated?
- What testing should be performed?
- How should germline risk assessment be performed?
- Testing cases of isolated extra-renal manifestations?
Regarding who should be tested, experts agreed that genetic testing should be recommended for the patients outlined in the slide below:
Consensus statements regarding who should be performing genetic testing and how it should be performed are outlined on the slide below:
Of all the questions proposed to the panel, 58% reached a consensus. These consensus statements should help to refine, and begin to form, guidelines on genetic testing for hereditary RCC. A follow-up meeting is planned for the Spring of 2020.
Presented by: Michael Daneshvar, MD, Urology Resident, SUNY Upstate Medical Center, Syracuse, New York
Written by: Jacob Berchuck, MD, Medical Oncology Fellow at the Dana-Farber Cancer Institute (Twitter: @jberchuck) at the 2020 Genitourinary Cancers Symposium, ASCO GU #GU20, February 13-15, 2020, San Francisco, California