Genomic Testing

The applications for germline and somatic genetic testing in prostate cancer have skyrocketed, carving out an important role in screening, diagnosis, and treatment.

“The take-home message is that it's not a question of if you're going to start doing a hereditary cancer risk assessment, it's when,” says Neal D. Shore, MD, FACS.

“I think that it's very clear that this test is independently prognostic,” says Daniel E. Spratt, MD.

“The traction on this, I think, is really rather remarkable,” says Neal D. Shore, MD, FACS.

“I think one important message here is that MTAP is an important novel pathway in carcinogenesis, particularly bladder and urothelial carcinomas,” says Philippe E. Spiess, MD, MS, FRCSC, FACS.

“The management of hereditary upper tract cancer and Lynch syndrome [is] a multidisciplinary approach,” says Hong Truong, MD.

“We need to look at tumors a little bit differently. Not so much put them in the same categories, but really look at them based on whether the mutation is as identified in that specific marker,” says Philippe E. Spiess, MD, MS, FRCSC, FACS.

“I think that [these findings] definitely [warrant] standard of care radiation and hormone therapy for these patients or other forms of radical therapy,” says Daniel E. Spratt, MD.

At the 2022 ASCO Genitourinary Cancers Symposium, Neal D. Shore, MD, FACS, presented findings of the prospective study, "Hereditary cancer risk assessment in the community urology practice setting."

A recent trial investigated the prognostic value of the 22-gene Decipher genomic classifier in patients with intermediate-risk prostate cancer.

Hong Truong, MD, served as a co-investigator of a recent study that defined selection criteria for patients with upper tract urothelial cancer for Lynch syndrome screening.

The emergence of tumor-agnostic approvals, such as pembrolizumab for MSI-H solid tumors, has increased the significance of genomic profiling in urology, as patients with prostate, bladder, or kidney cancer may benefit from these therapies.

“We found that while the NCCN guideline for Lynch syndrome is highly specific in identifying patients with Lynch syndrome, it missed about 50% of patients with upper tract cancer who had Lynch syndrome,” says Hong Truong, MD.

“This is one of the first large-scale, and by that, I mean a national-based study throughout the United States, with geographical diversity of community-based urology practices that had a pretty sophisticated background of advanced prostate cancer care,” says Neal D. Shore, MD, FACS.

A study presented at the 2022 ASCO Genitourinary Cancers Symposium investigated how MTAP deletion is a potentially actionable mutation for developing novel therapies for genitourinary cancers.

A recent study published in Radiotherapy & Oncology, investigates the potential for germline variants to predict long-term toxicity in patient who have received radiation.

“Such findings underscore the need for and importance of molecular testing to inform management along with continued research to establish treatment paradigms with appropriately targeted therapies for patients with prostate cancer,” the authors wrote.

In this installment of the Urology Times' 50th Anniversary Innovation Celebration, Veda N. Giri, MD, highlights the role genetic testing has played in a new era of prostate cancer therapeutics.

"A major innovation impacting urology and oncology is the therapeutic advances based on genetic information," says Veda N. Giri, MD.

“What really needs to be done to show that this works is to look prospectively,” says Amar U. Kishan, MD.

“What we found was a signature that you can apply to patients to find out whether they're at high risk of these moderate or greater urinary side effects in the long term, and it did appear to depend on the type of radiation they were receiving,” says Amar U. Kishan, MD.

“We’re going to review CHEK2-related management guidelines, hereditary cancer implications for males and their families…and the importance of cascade testing,” says Veda N. Giri, MD.

“We wanted to see whether certain variations and these micro-RNA binding sites could be associated with the risk of developing side effects,” says Amar U. Kishan, MD.

Ulka Nitin Vaishampayan, MBBS, discusses the FGFR inhibitor erdafitinib and the importance of genetic/genomic testing in bladder cancer.

Cost was the most commonly reported barrier to genetic testing.

Embracing and understanding new and emerging molecular techniques will improve patient outcomes.

The report provides information on the G84E mutation in the HOXB13 gene, which is linked to a significantly increased risk of developing prostate cancer.

“Our case discussion for January 18 is going to be focused on a patient who initially has biochemically recurrent prostate cancer [and] progresses to metastatic disease,” says Veda N. Giri, MD.

The approval of the first PARP inhibitors for prostate cancer was hailed as the "dawn of the precision medicine era" in the field.

“In non–muscle-invasive bladder cancer, we need more biomarkers, something that can hopefully reduce the frequency of invasive procedures for these patients,” says Kristen Scarpato, MD, MPH.