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Current and Proposed Molecular Diagnostics in a Genitourinary Service Line Laboratory at a Tertiary Clinical Institution

2014-01-01 00:01:01

Cancer Journal; Volume 20, Number 1, January/February 2014



Aaron M. Udager, MD, PhD; Ajjai Alva, MD; Rohit Mehra, MD



Abstract



The idea that detailed knowledge of molecular oncogenesis will drive diagnostic, prognostic, and therapeutic clinical decision making in an increasingly multidisciplinary practice of oncologic care has been anticipated for many years. With the recent rapid advancement in our understanding of the molecular underpinnings of genitourinary malignancies, this concept is now starting to take shape in the fields of prostate, kidney, bladder, testicular, and penile cancer. Such breakthroughs necessitate the development of robust clinical-grade assays that can be quickly made available for patients to facilitate diagnosis in challenging cases, risk-stratify patients for subsequent clinical management, select the appropriate targeted therapy from among increasingly diverse and numerous options, and enroll patients in advanced clinical trials. This rapid translation of basic and clinical cancer research requires a streamlined, multidisciplinary approach to clinical assay development, termed here the molecular diagnostics service line laboratory. In this review, we summarize the current state and explore the future of molecular diagnostics in genitourinary oncology to conceptualize a genitourinary service line laboratory at a tertiary clinical institution.



Introduction



The genomic era is rapidly revolutionizing the practice of health care, and in almost no area is this more apparent than oncology, where molecular data are increasingly driving patient care in terms of diagnosis, prognosis, and therapeutics. The promise of personalized medicine, wherein the therapeutic options for an individual patient are tailored to his/her specific tumor genetics and biology, requires robust clinical assays for the biomarker(s) of interest. Our evolving understanding of the molecular underpinnings of urologic malignancies provides an emerging role for molecular testing in the treatment of these common neoplasms. Here, we envision the concept of a genitourinary service line laboratory at a tertiary clinical institution, and using an organ-based approach, we review the current state and explore the future of molecular diagnostics in genitourinary oncology.



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Key Words



prostate cancer | kidney cancer | bladder cancer | testicular cancer | penile cancer | immunohistochemistry (IHC) | fluorescent in situ hybridization (FISH) | in situ hybridization (ISH) |
whole-genome sequencing