During the past 10 years, the supply and demand for diagnostic and predictive cancer genetic testing has rapidly increased, giving rise to the specialty of cancer genetic counseling. Genetic testing for inherited cancer syndromes can be useful for diagnosis and medical management among individuals presenting with a tumor or symptoms. In many cases, testing holds the possibility for treatment and prevention in at-risk individuals. Chapters 17 to 22 highlight the various issues related to molecular testing for this group of conditions, which include variable clinical utility, complex medical management options, difficult dilemmas with approaches to molecular testing, and testing in the research setting or during early transition to the clinical laboratory. The potential risks and benefits associated with testing vary based on the specific hereditary cancer syndrome, as well as the patient and family history. The American Society of Clinical Oncology recommends pre- and posttest counseling for individuals referred for cancer genetic testing.13 The genetic counselor discusses the details of the genetic testing (detection rate, clinical utility, recurrence risk, etc.) as well as early detection and prevention options for individuals with a positive test result. Often, hereditary cancer syndromes increase an individual's risk for cancer in multiple organ systems, which makes medical management and early detection more complex. For example, some individuals at risk for von Hippel-Lindau syndrome need at least yearly screening for brain and spine hemangioblastomas, retinal angiomas, pheochromocytoma, renal cell carcinoma, and other tumors.
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