Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

A qualitative study exploring the determinants of maternal health service uptake in post-conflict Burundi and Northern Uganda

Background Armed conflict has been described as an important contributor to the social determinants of health and a driver of health inequity, including maternal health. These conflicts may severely reduce access to maternal health services and, as a consequence, lead to poor maternal health outcomes for a period extending beyond the conflict itself. As such, understanding how maternal health-seeking behaviour and utilisation of maternal health services can be improved in post-conflict societies is of crucial importance. This study aims to explore the determinants (barriers and facilitators) of women’s uptake of maternal, sexual and reproductive health services (MSRHS) in two post-conflict settings in sub-Saharan Africa; Burundi and Northern Uganda, and how uptake is affected by exposure to armed conflict. Methods This is a qualitative study that utilised in-depth interviews and focus group discussions (FGDs) for data collection. One hundred and fifteen participants took part in the interviews and FGDs across the two study settings. Participants were women of reproductive age, local health providers and staff of non-governmental organizations. Issues explored included the factors affecting women’s utilisation of a range of MSRHS vis-à-vis conflict exposure. The framework method, making use of both inductive and deductive approaches, was used for analyzing the data. Results A complex and inter-related set of factors affect women’s utilisation of MSRHS in post-conflict settings. Exposure to armed conflict affects women’s utilisation of these services mainly through impeding women’s health seeking behaviour and community perception of health services. The factors identified cut across the individual, socio-cultural, and political and health system spheres, and the main determinants include women’s fear of developing pregnancy-related complications, status of women empowerment and support at the household and community levels, removal of user-fees, proximity to the health facility, and attitude of health providers. Conclusions Improving women’s uptake of MSRHS in post-conflict settings requires health system strengthening initiatives that address the barriers across the individual, socio-cultural, and political and health system spheres. While addressing financial barriers to access is crucial, attention should be paid to non-financial barriers as well. The goal should be to develop an equitable and sustainable health system

Perceptions of the effects of armed conflict on maternal and reproductive health services and outcomes in Burundi and Northern Uganda: a qualitative study

Background Armed conflict potentially poses serious challenges to access and quality of maternal and reproductive health (MRH) services, resulting in increased maternal morbidity and mortality. The effects of armed conflict may vary from one setting to another, including the mechanisms/channels through which the conflict may lead to poor access to and quality of health services. This study aims to explore the effects of armed conflict on MRH in Burundi and Northern Uganda. Methods This is a descriptive qualitative study that used in-depth interviews (IDIs) and focus group discussions (FGDs) with women, health providers and staff of NGOs for data collection. Issues discussed include the effects of armed conflict on access and quality of MRH services and outcomes, and the mechanisms through which armed conflict leads to poor access and quality of MRH services. A total of 63 IDIs and 8 FGDs were conducted involving 115 participants. Results The main themes that emerged from the study were: armed conflict as a cause of limited access to and poor quality of MRH services; armed conflict as a cause of poor MRH outcomes; and armed conflict as a route to improved access to health care. The main mechanisms through which the conflict led to poor access and quality of MRH services varied across the sites: attacks on health facilities and looting of medical supplies in both sites; targeted killing of health personnel and favouritism in the provision of healthcare in Burundi; and abduction of health providers in Northern Uganda. The perceived effects of the conflict on MRH outcomes included: increased maternal and newborn morbidity and mortality; high prevalence of HIV/AIDS and SGBV; increased levels of prostitution, teenage pregnancy and clandestine abortion; and high fertility levels. Relocation to government recognised IDP camps was perceived to improve access to health services. Conclusions The effects of armed conflict on MRH services and outcomes are substantial. The mechanisms through which armed conflict leads to poor access and quality of MRH services vary from one setting to another. All these issues need to be considered in the design and implementation of interventions to improve MRH in these settings

Third human challenge trial conference, Oxford, United Kingdom, February 6–7, 2020, a meeting report

The third Human Challenge Trial Meeting brought together a broad range of international stakeholders, including academia, regulators, funders and industry, with a considerable delegation from Low- and Middle-Income Countries. Controlled human infection models (CHIMs) can be helpful to study pathogenesis and for the development of vaccines. As challenge agents are used to infect healthy volunteers, ethical considerations include that the challenge studies need to be safe and results should be meaningful. The meeting provided a state-of-the-art overview on a wide range of CHIMs, including viral, bacterial and parasitic challenge agents. Recommendations included globally aligned guidance documents for CHIM studies; further definition of a CHIM, based on the challenge agent used; standardization of methodology and study endpoints; capacity building in Low- and Middle-Income Countries, in performance as well as regulation of CHIM studies; guidance on compensation for participation in CHIM studies; and preparation of CHIM studies, with strong engagement with stakeholders