Clin Med Res. 2011 Nov;9(3-4):144.
PS2-39: Demographic Characteristics & Follow-Up Care of Patients Tested for BRCA Mutations.Strauss J, Quinn V, Tiller G, Alvarado M, Goff J, Haque R.
Background Patients with inherited mutations in one or both of the BRCA1/ BRCA2 genes are at substantially higher risk for developing breast cancer and other malignancies. Subsequent to testing becoming publicly available in the late 1990s, organizations such as the National Comprehensive Cancer Network (NCCN) developed guidelines to aid in the identification of high-probability mutation carriers. It is unclear, however, how closely such guidelines are followed by healthcare providers, or what testing barriers may exist among patients. Furthermore, little is known about the clinical care and surveillance received by patients after testing positive for a mutation. The primary objective of this study is to assemble a cohort of BRCA-tested patients, in order to examine their demographic characteristics and clinical follow-up. Methods A cohort of approximately 4,300 patients, tested for BRCA mutations between 1997 and 2010, is being assembled using a database created and maintained by the Kaiser Permanente Southern California Regional Genetics Program. This database contains test results, as well as limited demographic and cancer history information collected during genetic counseling sessions prior to testing. These data will be linked to patient electronic medical records, providing information about diagnoses, clinical care, and pharmacy utilization. Preliminary analyses were conducted using the data from genetic counseling sessions. Results At time of testing, 22% (958/4387) of patients were under forty years of age, 65% (2851/4387) between the ages of forty and sixty-four, and 14% (607/4387) were sixty-five or older. Approximately 95% (4616/4387) of tested patients were female and 5% (223/4387) male. Most patients (73%; 3185/4387) were tested between 2006 and 2010. Conclusions Due to the increased cancer risk associated with BRCA gene mutations, it is important that high-probability mutation carriers be tested, and that those who test positive receive the appropriate follow-up care. The assembly of a BRCA cohort is an important first step in exploring questions surrounding patient testing, follow-up care, and clinical outcomes.
PMID:22090526[PubMed - in process]
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