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UPJ INSIGHT Influencing Best Practices for Genomic and Germline Testing in Urology
By: Neal Shore, MD, FACS, Carolina Urologic Research Center, Myrtle Beach, South Carolina; Takara A. Scott, PhD, Foundation Medicine, Inc, Cambridge, Massachusetts; Abhishek Srivastava, MD, Carolina Urologic Research Center, Myrtle Beach, South Carolina; Rachel Grove, Carolina Urologic Research Center, Myrtle Beach, South Carolina; Angela Thompson, Carolina Urologic Research Center, Myrtle Beach, South Carolina; Marni B. Tierno, PhD, RN, Foundation Medicine, Inc, Cambridge, Massachusetts; James Haberberger, BA, Foundation Medicine, Inc, Cambridge, Massachusetts | Posted on: 15 Dec 2023
Shore N, Scott TA, Srivastava A, et al. Influencing best practices for genomic and germline testing in urology. Urol Pract. 2023;10(6):648-654.
Study Need and Importance
The utilization of germline and genomic testing in advanced prostate cancer patients is lower in community-based settings compared to academic settings. This bias tends to favor patients perceived as high risk. To address this issue, we conducted a study at a single center to investigate the integration of comprehensive genomic profiling, which includes both tissue and liquid biopsy for somatic (acquired) and germline (hereditary) testing, into the clinical management of prostate cancer patients in a community-based urologic practice.
What We Found
Our analysis revealed clinically relevant genetic alterations through germline and somatic testing in both tissue and liquid biopsy samples (Figure). The prevalence of specific genetic alterations, such as microsatellite instability-high, high tumor mutational burden, and alterations in genes related to homologous recombination repair, aligned with published findings. The agreement between results obtained from tissue and liquid biopsies varied, especially in cases with low levels of circulating tumor DNA.
Limitations
The genomic regions targeted during the sequencing of tissue and liquid samples were periodically updated to include or exclude specific genes. Consequently, we consolidated the data to encompass only genes common across different sequencing approaches. Additionally, it is important to note that these findings were conducted at a single clinic and thus may not be representative of outcomes across all community-based practices. This is particularly relevant for liquid biopsy results, where the sensitivity to detect genomic alterations and biomarkers may be compromised in cases of low circulating tumor cell fraction.
Interpretation for Patient Care
The incorporation of germline and somatic testing as standard of care for high-risk localized and advanced prostate cancer patients within community urology practices serves multiple important purposes. These include the identification of relevant gene alterations and biomarkers that can impact patient family members through cascade testing, the facilitation of regulatory approved individualized treatment options, and the selection of appropriate subject for clinical trials, which might further contribute to the assessment of novel targeted therapies, enhancing the potential for therapeutic advancements.
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