Practical Cancer Genetics and Genomics in Women's Health.

There have been rapid advances in precision medicine since the Human Genome Project was completed in 2003, including several noteworthy advances in Women's Health. This includes significant advances in predicting individualized cancer risk based on hereditary cancer genetic testing, with the number of known cancer-predisposition genes extending well beyond BRCA1 and BRCA2. This has been coupled with gene-specific management guidelines for several gynecologic cancers. In addition, genetic testing can also inform therapy selection for women with gynecologic cancers. Here we address hereditary cancer and practical cancer genetics as it relates to the practicing Obstetrician/Gynecologist.

A Randomized Controlled Multicenter US Food and Drug Administration Trial of the Safety and Efficacy of the Minerva Endometrial Ablation System: One-Year Follow-Up Results.

STUDY OBJECTIVE: To assess the safety and effectiveness of the Minerva Endometrial Ablation System for the treatment of heavy menstrual bleeding in premenopausal women. DESIGN: Multicenter, randomized, controlled, international study (Canadian Task Force classification I). SETTING: Thirteen academic and private medical centers. PATIENTS: Premenopausal women (n = 153) suffering from heavy menstrual bleeding (PALM-COEIN: E, O). INTERVENTION: Patients were treated using the Minerva Endometrial Ablation System or rollerball ablation. MEASUREMENTS AND MAIN RESULTS: At 1-year post-treatment, study success (alkaline hematin ≤80 mL) was observed in 93.1% of Minerva subjects and 80.4% of rollerball subjects with amenorrhea reported by 71.6% and 49% of subjects, respectively. The mean procedure times were 3.1 minutes for Minerva and 17.2 minutes for rollerball. There were no intraoperative adverse events and/or complications reported. CONCLUSION: The results of this multicenter randomized controlled trial demonstrate that at the 12-month follow-up, the Minerva procedure produces statistically significantly higher rates of success, amenorrhea, and patient satisfaction as well as a shorter procedure time when compared with the historic criterion standard of rollerball ablation. Safety results were excellent and similar for both procedures.

Radiofrequency endometrial ablation in patients with a history of low transverse cesarean delivery.

STUDY OBJECTIVE: To assess adverse events associated with radiofrequency endometrial ablation in treatment of heavy menstrual bleeding in patients with a history of low transverse cesarean delivery (C-section group) and patients who delivered vaginally (vaginal delivery group). DESIGN: Retrospective cohort study (Canadian Task Force classification II-2). SETTING: Community-based gynecology practice in the United States. PATIENTS: The study included 194 patients (100 in the C-section group and 94 in the vaginal delivery group), aged 21 to 55 years, with a history of heavy menstrual bleeding. INTERVENTIONS: NovaSure endometrial ablation procedures were performed from April 2004 through December 2010. MEASUREMENTS AND MAIN RESULTS: Demographic characteristics, gynecologic and pregnancy history, and procedure setting were compared between groups. Intraoperative and postoperative adverse events that occurred within 72 hours of the procedure were summarized. The C-section and vaginal delivery groups were similar for demographic characteristics with the exception of age (mean [SD], 40.6 [5.0] years vs 42.5 [5.3] years, respectively; p = .01). Parity was significantly higher in the C-section group compared with the vaginal delivery group (2.4 [0.9] vs 2.1 [0.7]; p = .006). Adverse events commonly associated with endometrial ablation occurred in 3 patients in the C-section group and 5 patients in the vaginal delivery group (p = .68). In addition, 1 patient failed the pre-ablation cavity integrity assessment; therefore, ablation was not performed. All events resolved without sequelae. No uterine perforation or bowel or bladder injury occurred in any patient. CONCLUSION: Radiofrequency endometrial ablation performed in a community practice was well tolerated in patients with a history of low transverse cesarean delivery.

Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting.

OBJECTIVE: To evaluate the feasibility and results of incorporating routine hereditary cancer risk assessment, counseling, and follow-up genetic testing in the community obstetrics and gynecology practice setting without referral to a genetic counselor. METHODS: This prospective process intervention study was conducted with two obstetrics and gynecology practice groups (five sites). The intervention included baseline process assessment, refinement of clinic-specific patient screening workflows and tools, and training in hereditary cancer risk screening and follow-up. Outcomes related to hereditary cancer assessment and testing were measured during an 8-week postintervention period. Patients and health care providers were surveyed about satisfaction with the process. Data also were collected during the 8 weeks before the intervention to assess the effects of screening process improvements. RESULTS: A total of 4,107 patients were seen during the postintervention period, and 92.8% (3,811) were assessed for hereditary cancer risk. Among those assessed, 906 of 3,811 (23.8%) women met National Comprehensive Cancer Network guidelines for genetic testing, and 813 of 906 (89.7%) eligible patients were offered genetic testing. A total of 165 of 4,107 (4.0%) women completed genetic testing and received a final test result. This represents a fourfold increase over genetic testing immediately before the intervention (1.1%) and an eightfold increase over the previous year (0.5%). Testing identified pathogenic variants in 9 of 165 (5.5%) tested women. All health care providers (15/15) reported that they will continue to use the established hereditary cancer risk assessment process. In addition, 98.8% (167/169) of patients who submitted a sample for genetic testing and completed a patient satisfaction survey stated that they were able to understand the information provided, and 97.6% (165/169) expressed satisfaction with the overall process. CONCLUSION: It is feasible to incorporate hereditary cancer risk assessment, education, and testing into community obstetrics and gynecology practices. As a result, multigene panel testing identified significant cancer risks that otherwise would not have been recognized.