Newborn Screening in Africa

WORKSHOP DESCRIPTION

The goal of newborn screening (NBS) is the early identification, diagnosis and treatment of disease to improve health outcomes for affected infants. Early identification of these genetic/metabolic/infectious conditions is particularly crucial, since timely intervention can lead to a significant reduced morbidity, mortality, and associated disabilities in affected infants. However, NBS without follow-up, intervention and lifelong management is not cost effective. Once these conditions are diagnosed, infants should be followed by care specialists throughout their life spans, and a large clinical history of observations and measurements is created for each individual. In Africa as in all MENA countries, congenital disorders remain a major concern in pediatric morbidity, mostly in relation with high levels of consanguinity.

Various levels of NBS programs do exist such as congenital hypothyroidism and phenylketonuria.

NBS programs are often run by national governing bodies with the ideal objective of screening all infants born on the considered entity. This workshop will primarily focus on specific topics of Africa where the population is characterized by large family size and a high level of inbreeding. Genetic disorders are common and account for a substantial proportion of physical and mental handicap. This local conference on NBS will provide an opportunity for participants to discuss recent advances in research and technology that have led to the development of more effective detection and treatment of genetic disorders in infants. Participants at this meeting, mainly drawn from the nation but also from the region, will have an opportunity to share ideas and mechanisms on how to develop a national NBS system, experiences with issues around the expansion of existing programs including the development of quality assurance/quality control, training and the management of screenable conditions of interest.

Establishing sustainable NBS programs in Africa poses major challenges as it competes with other health priorities such as infectious disease and malnutrition. Despite this, it is imperative that Africa recognizes the importance of NBS based on experiences of both developed and developing countries in saving large number of babies from mental retardation and other complications. Some of the critical factors necessary for a successful national NBS program are its inclusion among government priorities, suitable and sustainable funding, large public acceptance, health practitioners cooperation, and government promotion and coordination for institutionalizing the NBS system. Therefore, this workshop will present a review of NBS in Mena, African, European countries as well as USA and will discuss enabling factors leading to successful NBS program implementation, and identifies obstacles that do not facilitate the program implementation in Africa.

The workshops will also feature sessions on short-term and long-term Follow-up. Other sessions include various topics such as global perspectives and emerging laboratory technologies. The meeting will also consider the financial, social, ethical and legal issues related to NBS research and practice and aims to make recommendations to the relevant National Health Committees and other stakeholders based on these issues.

Besides, capture, coding and communication of NBS information represent a challenge for public health laboratories, health departments, hospitals, and ambulatory care practices. An increasing number of conditions targeted for screening and the complexity of interpretation contribute to a growing need for integrated information-management strategies. One session in this workshop will be dedicated to NBS Translational Research and Health Information Technology that seeks to improve the health outcomes of newborns with genetic or congenital disorders through an informatics infrastructure that provides the research community access to robust NBS resources. A special session on NBS and genomics will explore elements of a translational research agenda that would lead to the application of new genomics concepts to NBS and child health. This illustrates the importance of a system approach for NBS in general. This workshop content is also intended to encourage medical practitioners, as well as parents and community members to be involved in NBS policy development.

WORKSHOP OUTLINE

The following is a brief description of the topics that the workshop will cover:

Part 1: Inventory for Africa

Part 2: Issues specific to Africa

Part 3: NBS status in the African and MENA countries

Part 4: NBS in US and other developed countries

Part 5: Legal, ethical, financial and social issues of NBS in Africa

Part 6: Treatment: short-term and long-term follow-up

Part 7: NBS in the genomics era

Part 8: NBS and Health Information Technology

Part 9: Global Perspectives of Newborn Screening

Part 10: Research/Education and Public Information on NBS

Part 11: Towards a National NBS program

WORKSHOP OBJECTIVES – EXPECTED OUTCOME

The general objectives of this workshop include building medical and research capacity in all aspects of NBS in Africa and the region. The specific goals are to introduce participants to NBS issues, demonstrate the various obstacles towards a setting up of a national program and to explore with the policy makers and stakeholders the possibility of initiating and or strengthening such program in Africa and the region. In particular it aims to identify conditions of particular importance in the country (e.g. metabolic disorders, phenylketonuria, deafness, hemoglobinopathies, hypothyroidism…), determine the research and infrastructure needs in establishing NBS programs; assess and call for the interest of Moroccan policy makers in developing and expanding NBS activities; evaluate specific cultural and social issues surrounding NBS in the country; identify existing research and technical training opportunities related to NBS such as medical genetics, and laboratory technical skills, and examine opportunities to develop research training programs relevant to NBS in the country. Some of the expected outcomes would include establishment of national network to foster communication and collaboration between NBS actors and specific NBS programs in Africa. Recommendations for collaborative research and training programs that will promote activities related to NBS in the country will be announced and shared with health policy makers, in particular the ones related to the feasibility of establishing a national registry towards a national program.

Language

Lectures will be given in English. If possible some sessions can be given in French (Diaporama must be English). Discussion and questions are allowed in French.

Intended Audience

This workshop is designed for individuals based in medical, biomedical and biological institutions, interested to learn, improve or update their knowledge about newborn screening and medical genetics and medical informatics tools and resources applied to NBS programs. The target audience includes scientists from different fields including MDs, Geneticists, Biologists, Pharmacists, Care practitioners, bioinformaticians and computer scientist, from various levels including doctors, researchers, educators, graduate students, and other scientific staff who are interested in child health and genetics diseases. Both experienced and novice users will benefit from participation. All sectors must be empowered to participate in the implementation of the NBS program, i.e. pediatricians, obstetricians, midwives, neonatologists, geneticists, endocrinologists, bioinformaticians, nurses, community health workers, hospital administrators, and policy makers.

Participant profile and Selection criteria

The subject matter is suited for MDs, researchers, PhD students or MD students in a broad range of disciplines: medicine, biology, computer science, pharmacy etc… Candidates will be asked to provide information on their personal tasks and field of research. Good knowledge of English is a prerequisite. The number of attendees is limited to 100 persons. The registration into the workshop will be provided on the first come first served basis, provided the selection committee accepted the application candidates. Evidence of involvement in research and practice in Pediatrics and child and maternal health, or medical genetics must be provided. Those accepted will be informed by April 29th, 2019. Due to limited space, priority will be given to those cited. Others will be welcome as space allows. Interested applicants may submit their application with a small write up to clearly mention the benefit of attending this workshop.

Travel fellowships

Travel Fellowship funds for students coming from other far Moroccan cities will be provided to help them to attend the workshop. These travel fellowships are supported through funds from other organizations. Special registration grants for foreign attendees are available on need basis. The number of these grants is limited and will depend on sponsors’ donations. Those who are interested are asked to send their request and justification by email tocontact@biomedicalintelligence.org . Applicants from Africa and Middle-East are encouraged as they will be taken in charge provided they are willing to pay for their travel. Interested candidates are invited to apply and send their CV at the time of on line registration.

Number of Participants

Maximum: 100

Workshop materials

Lecture notes and information package (hard and digital copies) will be provided. The attendees will be given a copy of the PowerPoint slides. A certificate of attendance will be provided.