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.

Vitamin D deficiency in pregnancy at term: risk factors and pregnancy outcomes.

Background Vitamin D deficiency during pregnancy is a worldwide epidemic. The aim of this study was to determine the prevalence of vitamin D deficiency, its predictive factors and the association with pregnancy outcomes. Materials and methods This was a prospective observational study in a tertiary teaching hospital over 2-years' duration from August 2013 to August 2015. A total of 680 women who completed 37 weeks of pregnancy were recruited. Results Five hundred and seventy-five patients were enrolled in the final analysis for pregnancy outcomes (response rate of 84.6%). There were 71.7% patients who exhibited vitamin D deficiency, 21.0% vitamin D insufficiency and only 7.3% who had adequate levels of 25-hydroxyvitamin D (25-OH-vit D) of more than 30 ng/mL. There was no statistically significant association between vitamin D status with maternal (parity, gestational diabetes mellitus, hypertension, preeclampsia, intrauterine growth restriction, preterm labor, antenatal infection, bacterial vaginosis and anemia) and neonatal outcomes (low birth weight baby and neonatal intensive care unit admission) among the three groups. Conclusion A high prevalence of low vitamin D level among pregnant women at term was seen in this study, however, there was no significant finding observed between vitamin D status and both maternal and neonatal outcomes.

Comparison of 25-hydroxyvitamin D and metabolic parameters between women with and without polycystic ovarian syndrome.

Background There is increasing evidence that supports the contribution of vitamin D deficiency in metabolic disturbances among women with polycystic ovarian syndrome (PCOS). The aim of this study was to compare 25-hydroxyvitamin D level and the prevalence of metabolic syndrome in the PCOS and normal women. Materials and methods A case-controlled study was conducted in a teaching hospital over a 6-month duration from June 2015 to January 2016. A total of 90 women, who consisted of 45 women with PCOS (study group) and 45 women without PCOS (control group), were recruited. Results The final analysis was of 80 women only and the prevalence of vitamin D deficiency (<20 ng/mL) was high between both groups, i.e. 93.7% but there was no significant difference (p = 0.874). Nevertheless, the prevalence of metabolic syndrome was significantly higher in the study group as compared to the control group (27.5% vs. 5.0%, p = 0.013). There was no statistically significant correlation between vitamin D level with clinical [age, weight, body mass index (BMI), waist and hip circumference, systolic and diastolic blood pressure (SBP and DPB, respectively)] and metabolic parameters (fasting glucose, triglycerides, cholesterol, high-density lipoprotein and low-density lipoprotein) among women with PCOS. However, height was positively correlated (r = 0.338, p = 0.033) and the contrary waist-hip ratio was negatively correlated with vitamin D level (r = -0.605, p = 0.048). Conclusion The prevalence of vitamin D deficiency was high in our study population. Nevertheless, the prevalence of metabolic syndrome was higher among women with PCOS as compared to women without PCOS.