LUGPA Policy Brief:

The Importance of Germline and Somatic Genetic Tests in Urological Practice

Dec. 7, 2023

Genetic testing has become an indispensable tool in modern medicine, revolutionizing the landscape of diagnosing, treating, and managing various diseases, from rheumatologic conditions such as IBS to customized, targeted therapy for many malignancies. This policy brief underscores the pivotal role of germline and somatic genetic tests within the urological practice, emphasizing their profound impact on patient outcomes, the advent of personalized medicine, and the dynamic shifts in healthcare provision.

Urological conditions, including prostate, kidney, and bladder cancers, have intricate genetic landscapes that wield significant influence over disease susceptibility, progression, and response to treatment. Both germline (inherited) and somatic (acquired mutations) genetic tests have emerged as critical instruments in identifying genetic alterations that inform clinical decision-making, thereby enhancing patient care.

In urological care, the significance of early detection and risk assessment cannot be overstated. Genetic tests that pinpoint hereditary risks, when combined with comprehensive family histories, facilitate the creation of personalized screening plans, ensuring the timely identification of potential issues. Furthermore, integrating genetic tests into precision medicine guides treatment selection by revealing tumor-specific mutations, facilitating the administration of effective and tailored therapies with minimal side effects.

As a predictive tool, genetic testing can identify markers indicative of the aggressiveness of urological cancers. Predictive markers further refine treatment approaches and inform recommendations for familial and cascade testing, promoting early detection in at-risk family members and proactive prevention in high-risk groups.   

Congressional action is imperative to protect and enhance access and coverage of genetic testing. This includes integrating genetic counseling for informed decision-making, promoting awareness of genetic testing benefits, supporting research on genetic aspects, and collaborating to secure insurance coverage, rendering genetic testing accessible and affordable in routine urological care.

The bipartisan Reducing Hereditary Cancer Act (H.R. 1526) addresses some of these issues, aiming to modify Medicare statutes for comprehensive coverage, encompassing genetic counseling, testing, screening, and risk-reducing interventions. Introduced on March 9, the bill aligns with the Cancer Support Community's endorsement and addresses limitations in current Medicare coverage.

Despite Medicare covering genetic testing for specific mutations, persistent limitations hinder access for individuals at increased risk without a cancer diagnosis. The Reducing Hereditary Cancer Act proposes expanded coverage based on family history or suspicious personal/family history, aligning seamlessly with NCCN guidelines.

Embracing genetic testing in urological care is critical to sustaining advancements in precision medicine and delivering effective, patient-centered healthcare. Statutory reform, exemplified by the Reducing Hereditary Cancer Act, will play a pivotal role in dismantling barriers to genetic testing accessibility, ensuring a proactive approach to cancer prevention and early detection.