ASCO GU 2020: Genetic Risk Assessment for Hereditary RCC: Report from the Consensus Panel Meeting

San Francisco, California ( A subset of renal cell carcinoma (RCC) are associated with a hereditary component (2-8%). This is supported by findings from The Cancer Genome Atlas, which identified a germline mutation in up 9% of RCC cases. Contemporary germline risk assessment is not standardized with multiple options for genetic testing including single-gene, multi-gene, and customized panels. Factors that providers incorporate into the decision to perform genetic testing include age, histology, associated syndromic manifestations, relatives with RCC, and bilaterality or multifocality. Despite known associated genetic risk factors, there is a paucity of guidelines for genetic risk assessment and many unanswered questions. Who should be tested? What testing should be done? When and how should it be performed? Dr. Michael Daneshvar presented results from a national, multidisciplinary panel in Philadelphia from September, 2019 that aimed to address these questions.

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.

ASCO GU 2020 hereditary RCC participants

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:

ASCO GU 2020 hereditary RCC results1

ASCO GU 2020 hereditary RCC results2

Consensus statements regarding who should be performing genetic testing and how it should be performed are outlined on the slide below:

ASCO GU 2020 hereditary RCC results3

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
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