Cancer genetic testing panels for inherited cancer susceptibility: the clinical experience of a large adult genetics practice

摘要: Next-generation sequencing genetic testing panels for cancer susceptibility (cancer panels) have recently become clinically available. At present, clinical utility is unknown and there are no set criteria or guidelines established whom to offer such testing. Although it may be a cost-effective method test multiple genes concurrently, the rate of finding variants significance (VUS) high yield mutations in with management recommendations. We describe our Center’s experience over 14-month period (April 2012–June 2013) patient interest uptake panel whether were predictors pursuing identifying mutations. Using ranking system, patients’ family histories ranked from 0 3 (low likelihood underlying susceptibility). The system was assessed determine its predictability Of 689 patients who met inclusion criteria, option discussed 357 patients; 63 (17.6 %) pursued Those more likely older, male, affected cancer, primary cancers, had higher rank than non-pursuers. There significant mutation on 61 received results, 6.6 % 19.7 VUS rate. practice low strength history alone not predict mutation.