Hereditary gynaecologic cancers in Nepal: a proposed model of care to serve high risk populations in developing countries.

BACKGROUND: Endometrial, ovarian and breast cancers are paradigms for global health disparity. Women living in the developing world continue to present in later stages of disease and have fewer options for treatment than those in developed countries. Risk reducing surgery is of proven benefit for women at high risk of gynaecological cancer. There is no specific model for identification and management of such women in the developing world. METHODS: We have integrated data from our published audit of a major gynaecological oncology centre at Royal Hospital for Women in Australia, with data from our survey and a focus group discussion of Nepalese gynaecological health care professionals regarding genetic testing, and findings from the literature. These data have been used to identify current barriers to multidisciplinary gynaecological oncology care in developing nations, and to develop a model to integrate hereditary cancer services into cancer care in Nepal, as a paradigm for other developing nations. RESULTS: The ability to identify women with hereditary gynaecological cancer in developing nations is influenced by their late presentation (if active management is declined or not appropriate), limited access to specialised services and cultural and financial barriers. In order to include genetic assessment in multidisciplinary gynaecological cancer care, education needs to be provided to all levels of health care providers to enable reporting of family history, and appropriate ordering of investigations. Training of genetic counsellors is needed to assist in the interpretation of results and extending care to unaffected at-risk relatives. Novel approaches will be required to overcome geographic and financial barriers, including mainstreaming of genetic testing, telephone counselling, use of mouth swabs and utilisation of international laboratories. CONCLUSION: Women in Nepal have yet to receive benefits from the advances in early cancer diagnosis and management. There is a potential of extending the benefits of hereditary cancer diagnosis in Nepal due to the rapid fall in the cost of genetic testing and the ability to collect DNA from a buccal swab through appropriate training of the gynaecological carers.

Changing patterns of referrals and outcomes of genetic participation in gynaecological-oncology multidisciplinary care.

BACKGROUND: Genetic participation in gynaecological oncology multidisciplinary team meetings (MDT) may identify the sentinel cancer in women with hereditary breast-ovarian cancer syndrome or Lynch syndrome. AIMS: To identify the changing patterns of genetic referral from 2010 to 2014 and the outcomes of referrals through clinical MDT case review. MATERIALS AND METHODS: Medical records of cases of gynaecological cancer presented at the MDT meetings and genetics databases were reviewed to determine the frequency and outcomes of recommendations for genetic referral between 2010 and 2014. RESULTS: Four hundred and sixty-two women of 2523 cases reviewed were recommended for referral, increasing from 8% in 2010 to 25% in 2014. However, 167 of 462 patients (36%) had not registered with a Hereditary Cancer Clinic in NSW/ACT, including 11 women with high-grade serous ovarian cancer and seven women with abnormal MMR immunohistochemistry. Mutations were identified in 40 of 165 women (24%) undergoing breast cancer BRCA1/2 testing and in ten of 25 women (40%) who underwent MMR genetic testing. Eighty-one first- or second-degree relatives of these women have undergone predictive testing, identifying 48 mutation carriers and 33 non-carriers. CONCLUSION: Changing indications and increased participation by a genetic consultant in the weekly MDT meeting has led to increasing genetic referrals over the last five years. Follow up of referrals needs to be addressed. With decreasing costs of genetic testing and use of readily transportable DNA collected through saliva or mouth swabs, we propose that distance should not be a barrier to this model being extended to all centres providing care to gynaecological cancer patients.

Improving attendance to genetic counselling services for gynaecological oncology patients.

BACKGROUND: Gynaecological cancers may be the sentinel malignancy in women who carry a mutation in BRCA1 or 2, a mis-match repair gene causing Lynch Syndrome or other genes. Despite published guidelines for referral to a genetics service, a substantial number of women do not attend for the recommended genetic assessment. The study aims to determine the outcomes of systematic follow-up of patients diagnosed with ovarian or endometrial cancer from Gynaecologic-oncology multidisciplinary meetings who were deemed appropriate for genetics assessment. METHODS: Women newly diagnosed with gynaecological cancer at the Royal Hospital for Women between 2010 and 2014 (cohort1) and 2015-2016 (cohort 2) who were identified as suitable for genetics assessment were checked against the New South Wales/Australian Capital Territory genetic database. The doctors of non-attenders were contacted regarding suitability for re-referral, and patients who were still suitable for genetics assessment were contacted by mail. Attendance was again checked against the genetics database. RESULTS: Among 462 patients in cohort 1, flagged for genetic assessment, 167 had not consulted a genetic service at initial audit conducted in 2014. 86 (18.6%) women whose referral was pending clarification of family history and/or immunohistochemistry did not require further genetic assessment. Letters were sent to 40 women. 7 women (1.5%) attended hereditary cancer clinic in the following 6 months.The audit conducted in 2016 identified 148 patients (cohort 2) appropriate for genetic assessment at diagnosis. 66 (44.6%) had been seen by a genetics service, 51 (34.5%) whose referral was pending additional information did not require further genetic assessment. Letters were sent to 15 women, of whom 9 (6.1%) attended genetics within 6 months. CONCLUSIONS: To improve the effectiveness of guidelines for the genetic referral of women newly diagnosed with ovarian cancer, clinicians need to obtain a thorough family history at diagnosis; arrange for reflex MMR IHC according to guidelines; offer BRCA or panel testing to all women with non-mucinous ovarian cancer prior to discharge and systematically follow up all women referred to genetics at the post-op visit.

Genetic testing in a gynaecological oncology care in developing countries-knowledge, attitudes and perception of Nepalese clinicians.

BACKGROUND: Genetic testing for an inherited susceptibility to cancer is an emerging technology in medical practice. Little information is currently available about physicians' attitudes towards these tests in developing countries. METHODS: We conducted an email survey of Nepalese physicians practicing in academic and non-academic settings in Nepal, regarding knowledge, attitudes and perception towards genetic testing for gynaecologic cancer. RESULTS: Responses were received from 251 of 387 practitioners (65%). Only 46% of all respondents felt prepared to answer patients' questions about genetic testing for gynaecologic cancer, despite 80% reporting that patients had asked questions about genetic testing, and 55% being asked more than 5 times in the past year. 42% reported more than 10 of their patients having had genetic testing for cancer, the majority for BRCA1/2. Access (40%), cost (37%) and lack of physicians' information (24%) were cited as the main barriers to testing. The most commonly identified concerns regarding genetic testing were the potential for increased patient anxiety, misinterpretation of results by patients, and maintaining confidentiality of results (64%, 47% and 38% of respondents respectively). CONCLUSION: This study shows the gap among the health care providers in developing countries and the available modern scientific tools and skills in regard to the benefits of genetic testing for gynaecological cancers in a developing nation. These findings indicate the need for the introduction of further genetic counselling education and support into gynaecological care in Nepal.

Clinico-epidemiological profile of molar pregnancies in a tertiary care centre of Eastern Nepal: a retrospective review of medical records.

BACKGROUND: The incidence of molar pregnancy has demonstrated marked geographic and ethnic differences. The reported data in Nepal is inconsistent with minimal published literature. Thus, we designed a study to determine prevalence of molar pregnancies and demonstrate clinical and epidemiological characteristics of the patients attending a tertiary care center in eastern Nepal. METHODS: A retrospective review of medical records was conducted to determine the prevalence of molar pregnancies at the B.P. Koirala Institute of Health Sciences (BPKIHS) from the year 2008 to 2012. Secondary data from the medical records were analyzed. Annual and 5-year prevalence of molar pregnancy per 1000 live births was calculated. Demographic characteristics, clinical presentation, management methods and complications of molar pregnancy were studied. RESULTS: The 5- year prevalence of molar pregnancy at BPKIHS is 4.17 per 1000 live births with annual prevalence ranging 3.8-4.5 per 1000 live births. More than one third of the patients were in the age group of 20-35 years and majority of them were of Hindu religion. For more than one third (41.7 %) of the patients, it was their first pregnancy while about 10 % gave a positive past history of molar pregnancy. Abnormal uterine bleeding (86.3 %) was the most frequent complaint, suction evacuation was the most common method of treatment and more than half of the patients required prolonged care after initial management. CONCLUSION: There is a need for studies at country level which will give us a national figure on molar pregnancies. Thus, a standardized clinic-epidemiological profile of molar pregnancy in Nepal can be created.

A Case Control Study on Risk Factors Associated with Low Birth Weight Babies in Eastern Nepal.

Background. This study was done to assess the maternal and sociodemographic factors associated with low birth weight (LBW) babies. Methods. An unmatched case control study was done involving 159 cases (mothers having LBW singleton babies) and 159 controls (mothers having normal birth weight singleton babies). Results. More than 50% of LBW babies were from the mothers with height ≤145 cm while only 9.43% of NBW babies were from the mothers with that height. Finally, after multivariate logistic regression analysis, maternal height, time of first antenatal care (ANC) visit, number of ANC visits, iron supplementation, calcium supplementation, maternal education, any illness during pregnancy, and hypertension were found as the significant predictors of LBW. However, maternal blood group AB, normal maternal Body Mass Index (BMI), mother's age of 30 or more years, and starting ANC visit earlier were found to be protective for LBW. Conclusion. Study findings suggest that selectively targeted interventions such as delay age at first pregnancy, improving maternal education and nutrition, and iron and calcium supplementation can prevent LBW in Nepal.

Surgical emergencies in obstetrics and gynaecology in a tertiary care hospital.

INTRODUCTION: The management of Obstetrics and Gynaecological Emergency is directed at the preservation of life, health, sexual function and the perpetuation of fertility. Main aim of the study was to access the burden of Surgical Emergency in Obstetrics and Gynaecology and their course of management at BPKIHS. METHODS: A total of 314 women presenting at the emergency admission room of Obstetrics and Gynaecology Department of BPKIHS over two years, who required surgical intervention were included in this hospital based descriptive study. Clinical assessment and routine laboratory investigations were performed in all cases. All patients who presented with shock were resuscitated and surgery was done at earliest possible time. RESULTS: The age of patients ranged from 15- 55 years with approximately 43% in the 25-34 years category. Ninety two percent of them were married. Among the unmarried, 64% came with problems related to unsafe abortion. About 61% of females presenting as acute surgical abdomen had ruptured ectopic pregnancy, 7.64% had twisted ovarian cyst, and 6.26% had haemoperitoneum and pyoperitoneum following vaginal hysterectomies, total abdominal hysterectomies and caesarean section. Almost half (47.8%) of the cases underwent salphingectomy. CONCLUSIONS: Women present with wide range of complaints and conditions in the admission room of Obstetrics and Gynecology department of BPKIHS. Skilled clinicians, immediate investigation facilities and experienced specialty Obstetrical and Gynaecological surgeons are the main backbone of the emergency case management and saving lives. Study indicates there is need of some prospective study to establish the causes of rising trend in Ectopic Pregnancies.