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Genetic testing practice gap in urology could slow novel drug uptake


33% of urologists surveyed did not perform or refer patients for germline testing, despite treating patients with advanced prostate cancer in their practice.

A survey of urologists found that one-third of respondents neither perform germline testing themselves nor refer patients to genetic counseling, according to findings published online in Cancer Treatment and Research Communications.1

Stacy Loeb, MD

Stacy Loeb, MD

The findings are particularly concerning given that most of the respondents managed patients with advanced prostate cancer who could benefit from receiving novel treatments that are prescribed based on germline testing results.

There are also several adverse implications regarding cancer screening for the patients and their family members, lead study author Stacy Loeb, MD, Department of Urology at New York University and Manhattan Veterans Affairs, and coauthors wrote.

“Our results suggest significant gaps in knowledge of germline testing and alignment of practice with national guidelines among urologists. Germline testing education and facilitation of genetic evaluation in urologic practice is warranted.”

The survey comprised 32 multiple-choice questions. It was emailed between October 2019 and March 2020 to 6 sections of the American Urological Association (AUA), as well as to the Veterans Affairs Urology Mailgroup. During this time period, it was also shared on the AUA Young Urologist Discussion forum, and in a Facebook group of urologists. The 6 AUA sections who received the survey were New York, Northeastern, North Central, South Central, Southeastern, and Western.

Respondents were located in more than 25 states. Sixty percent had ≥21 years in practice, with 36% having at least 31 years in practice. Overall, 58% of respondents practiced general urology, with 31% specializing in urologic oncology or prostate cancer. The urologists worked across a wide spectrum of practice settings, including private (45%), academic (39%), private hospital (16%), public hospital (6%), Veterans Affairs (13%), Community health center/HMO (1%), and other (4%).

Only 1% of respondents reported never seeing patients with advanced prostate cancer. The remaining urologists reported seeing patients with advanced prostate cancer always (16%), often (46%), sometimes (30%), or rarely (8%).

Overall, 12% of respondents performed germline testing, 44% referred patients to a genetic counselor, 11% did both, and 33% did neither. Almost all (98%) respondents asked patients about their family of prostate cancer; however, only three-fourths (76%) asked about breast cancer and half (52%) asked about ovarian cancer.

Characteristics significantly associated with a respondent either performing germline testing or referring to a genetic counselor included younger age (P = .03), academic practice (P = .04), and specializing in prostate cancer or oncology (P = .007).

Precision treatments targeting specific genomic characteristics of tumors are rapidly growing as a critical component of the prostate cancer armamentarium. For example, the 2020 AUA guidelines for prostate cancer recommend PARP inhibitors for certain patients with deleterious or suspected deleterious germline or somatic homologous recombination repair gene-mutated metastatic castration-resistant prostate cancer (CRPC). The AUA guidelines also recommend the immunotherapy pembrolizumab (Keytruda) for certain patients with mismatch repair deficient or microsatellite instability–high metastatic CRPC. Thus, if patients are not receiving the proper genomic testing as part of their management, they could be missing out on these groundbreaking therapeutics.

“Given the substantial implications of genetic testing for patients and their families, it is essential that urologists have the education and practice resources to responsibly implement genetic assessment in clinical practice,” Loeb et al wrote. “Our survey has identified numerous actionable gaps, which will inform future research on how to optimize the implementation of genetic evaluation into urological care.”


1. Loeb S, Byrne N, Walter D, et al. Knowledge and practice regarding prostate cancer germline testing among urologists: Gaps to address for optimal implementation [published online ahead of print September 28, 2020]. Cancer Treat Res Commun. doi: 10.1016/j.ctarc.2020.100212

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