Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.

BACKGROUND: Identifying patients with BRCA mutations is clinically important to inform on the potential response to treatment and for risk management of patients and their relatives. However, traditional referral routes may not meet clinical needs, and therefore, mainstreaming cancer genetics has been shown to be effective in some high-income and high health-literacy settings. To date, no study has reported on the feasibility of mainstreaming in low-income and middle-income settings, where the service considerations and health literacy could detrimentally affect the feasibility of mainstreaming. METHODS: The Mainstreaming Genetic Counselling for Ovarian Cancer Patients (MaGiC) study is a prospective, two-arm observational study comparing oncologist-led and genetics-led counselling. This study included 790 multiethnic patients with ovarian cancer from 23 sites in Malaysia. We compared the impact of different method of delivery of genetic counselling on the uptake of genetic testing and assessed the feasibility, knowledge and satisfaction of patients with ovarian cancer. RESULTS: Oncologists were satisfied with the mainstreaming experience, with 95% indicating a desire to incorporate testing into their clinical practice. The uptake of genetic testing was similar in the mainstreaming and genetics arm (80% and 79%, respectively). Patient satisfaction was high, whereas decision conflict and psychological impact were low in both arms of the study. Notably, decisional conflict, although lower than threshold, was higher for the mainstreaming group compared with the genetics arm. Overall, 13.5% of patients had a pathogenic variant in BRCA1 or BRCA2, and there was no difference between psychosocial measures for carriers in both arms. CONCLUSION: The MaGiC study demonstrates that mainstreaming cancer genetics is feasible in low-resource and middle-resource Asian setting and increased coverage for genetic testing.

Evaluation in the predictive value of serum human epididymal protein 4 (HE4), cancer antigen 125 (CA 125) and a combination of both in detecting ovarian malignancy.

Background This study was conducted to evaluate the performance of human epididymal protein 4 (HE4), cancer antigen 125 (CA 125) and a combination of both via the Risk of Ovarian Malignancy Algorithm (ROMA) in detecting ovarian malignancy. Methods This was a diagnostic study enrolling 129 patients with pelvic mass(es) suspected of originating in the ovary who had been scheduled for surgery or radiological-guided biopsy. Serum HE4 and CA 125 levels were measured. HE4, CA 125 and ROMA were evaluated for sensitivity, specificity, positive predictive value and negative predictive value. The receiver operating characteristic (ROC) plots were graphed and area under the curve (AUC) values were calculated to investigate the accuracy of each marker for predicting ovarian malignancy. Results Overall, CA 125 remained significantly more sensitive (88.9% vs. 51.9%, p = 0.006) but less specific (56.9% vs. 95.1%, p < 0.001) than HE4. HE4 was superior to CA 125 in specificity (97.7% vs. 54.5%, p < 0.001) for premenopausal women. ROMA was non-significantly more sensitive (100.0% vs. 92.3%, p = 1.000) than CA 125 but both were equally specific (71.4%) for the postmenopausal group. In the premenopausal group, the AUC of serum HE4 was higher than serum CA 125 (0.851 vs. 0.817) but was equivalent to ROMA (0.851 vs. 0.859). In the postmenopausal group, ROMA exhibited an excellent AUC value as compared to CA 125 and HE4 (AUC of 0.907 vs. 0.874 vs. 0.863, respectively). Conclusion HE4 is useful in ruling out ovarian malignancy among premenopausal women. For postmenopausal women, ROMA appears to be an all-rounder with overall good sensitivity and specificity.