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.

A Challenge in Diagnosis and Management: Uterine Torsion in Childhood.

BACKGROUND: Uterine torsion is a rare event, which mostly reported in females with a gravid uterus and is exceptionally rare in children. CASE: A 9-year-old girl presented with 3 days of intermittent lower abdominal pain. Ultrasound revealed an ovarian mass, but laparotomy revealed an ischemic enlarged ovary and uterus rotated 180°. No reperfusion occurred after 60 minutes. A subtotal hysterectomy and right salpingoophorectomy were thus performed. CONCLUSION: Uterine and adnexal torsion presents with symptoms similar to those of adnexal torsion. Delays in diagnosis and referral continue to be an issue, resulting in suboptimal outcomes. Uterine torsion, although exceedingly rare in childhood, appears to occur only in the setting of ovarian masses, which provide the impetus for the rotational force to the elongated cervix of the prepubertal uterus.