Understanding Antenatal Genetics Services in Sri Lanka: Current Landscape of Screening and Diagnostic Services and Contextual Factors Influencing Their Availability and Uptake

Background: Too little information is available on Sri Lanka’s current capacity to provide community genetic services—antenatal genetic services in particular—to understand whether building that capacity could further improve and reduce disparity in maternal and child health. This qualitative research project seeks to gather information on congenital disorders, routine antenatal care, and the current state of antenatal screening testing services within that routine antenatal to assess the feasibility of and the need for scaling up antenatal genetics services in Sri Lanka. Methods: Nineteen key informant (KI) interviews were conducted with stakeholders in antenatal care and genetic services. Seven focus group discussions were held with a total of 56 Public Health Midwives (PHMs), the health workers responsible for antenatal care at the field level. Transcripts for all interviews and FGDs were analyzed for key themes, and themes were categorized to address the specific aims of the project. Results: Antenatal genetic services play a minor role in antenatal care, with screening and diagnostic procedures available in the private sector and paid for out-of-pocket. KIs and PHMs expect that demand for antenatal genetic services will increase as patients’ purchasing power and knowledge grow but note that prohibitive abortion laws limit the ability of patients to act on test results. Genetic services compete for limited financial and human resources in the free public health system, and inadequate information on the prevalence of congenital disorders limits the ability to understand whether funding for services related to those disorders should be increased. A number of alternatives to scaling up antenatal genetic services within the free health system might be better suited to the Sri Lankan structural and social context. Conclusions: Scaling up antenatal genetic services within the public health system is not feasible in the current financial, legal, and human resource context. Yet current availability and utilization patterns contribute to regional and economic disparities, suggesting that stasis will not bring continued improvements in maternal and child health. More information on the burden of congenital disorders is necessary to fully understand if and how antenatal genetic service availability should be increased in Sri Lanka, but even before that information is gathered, examination of policies for patient referral, termination of pregnancy, and government support for individuals with genetic disease are steps that might bring extend improvements and reduce disparity in maternal and child health.

Pitit se rìches malere [Children are the wealth of the poor]: The Influence of Gender and Power on Choice and Uptake of Long Acting Contraceptives

Background: Haiti has the highest maternal mortality rate in the Latin American and Caribbean region. Despite the fact that Haiti has received twice as much family planning assistance as any other country in the western hemisphere, the unmet need for contraception remains particularly high. Our hypothesis is that unsuccessful efforts of family planning programs may be related to a misconstrued understanding of the complex role of gender in relationships and community in Haiti. This manuscript is one of four parts of a study that intends to examine some of these issues with a particular focus on the influence of uptake and adherence to long acting contraceptive (LAC) methods.

Methods: We conducted a three-month community-based qualitative assessment through 20 in-depth interviews in Fondwa, Haiti. Participants were divided into 4 groups of five: female users, female non-users, men and key community stakeholders.

Results: Based on the qualitative interviews, we found that main barriers included lack of access to family planning education and services and concerns regarding side effects and health risks, especially related to menstrual disruption and fears of infertility. Women have a constant pressure to remain fertile and bear children, due not only to social but also economic needs. As relationships are conceived as means for economic provision, the likelihood of uptake of irreversible methods (vasectomy and tubal ligation) was restricted by loss of fertility. Consequently, the discourse of family planning, though self-recognized in their favor, assumes women can afford not to bear children. This assumption should be questioned given the complexities of the other social determinants at play, all which affect the reproductive decisions made by Haitians.

Conclusions: Overall, our study indicated awareness surrounding contraception in the Haitian Fondwa community. Combining the substantial impact of birth spacing with the elevated yet unmet need for contraceptives in the area, it is necessary to address the intricacies of gender issues in order to implement successful programing. In Haiti not being able to bear a child poses a threat to economic and social survival, possibly explaining a dimension of the low uptake of LACs in the region, even when made available. For this reason, we believe IUDs (Intrauterine Devices) provide a suitable alternative, allowing the couple to comprehend all of the factors involved in decision making, thus decreasing the imbalances of power and knowledge prior to considering an irreversible alternative.

Risk Prediction for Epithelial Ovarian Cancer in 11 United States-Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci.

Previously developed models for predicting absolute risk of invasive epithelial ovarian cancer have included a limited number of risk factors and have had low discriminatory power (area under the receiver operating characteristic curve (AUC) < 0.60). Because of this, we developed and internally validated a relative risk prediction model that incorporates 17 established epidemiologic risk factors and 17 genome-wide significant single nucleotide polymorphisms (SNPs) using data from 11 case-control studies in the United States (5,793 cases; 9,512 controls) from the Ovarian Cancer Association Consortium (data accrued from 1992 to 2010). We developed a hierarchical logistic regression model for predicting case-control status that included imputation of missing data. We randomly divided the data into an 80% training sample and used the remaining 20% for model evaluation. The AUC for the full model was 0.664. A reduced model without SNPs performed similarly (AUC = 0.649). Both models performed better than a baseline model that included age and study site only (AUC = 0.563). The best predictive power was obtained in the full model among women younger than 50 years of age (AUC = 0.714); however, the addition of SNPs increased the AUC the most for women older than 50 years of age (AUC = 0.638 vs. 0.616). Adapting this improved model to estimate absolute risk and evaluating it in prospective data sets is warranted.