Meow-Keong Thong Affiliation: Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia. E-mail: firstname.lastname@example.org
The Millennium Development Goals (MDG) Report in 2015 by the United Nations showed that it was successful in reducing poverty and mortality.1 The global under-five mortality rate has declined by more than half, dropping from 90 to 43 deaths per 1,000 live births from 1990 - 2015. Since the early 1990s, the rate of reduction in under-five mortality has more than tripled globally and in Asia, reduction of 60-78% was reported. The majority of these deaths were prevented due to improvements in hygiene, immunization and treatment of infectious diseases. In particular, measles vaccination helped prevent nearly 15.6 million deaths between 2000 and 2013. Despite these successes, the Report also showed there were gaps or disparities. Much of the achievements tended to bypass women and those who are in the lowest socio-economic group or disadvantaged because of their condition, disability or age. In 2015, the 2030 Agenda for Sustainable Developments (SDG 2030) were adopted post-MDG with 17 sustainable development goals as its targets.2 The focus is on continuing the progress made in MDGs as well as to reduce non-communicable diseases (NCDs). This focus on NCDs meant that congenital disorders and genetic conditions will be included for prevention and control globally. In particular, the SDG 3 included targets to end preventable deaths of newborns and children under 5 years of age by 2030, universal health care coverage, reduction of premature mortality from NCDs by 33% as well as support the development and research for medicines for both communicable and NCDs. These new targets meant that both curative and preventive strategies are needed to prevent congenital disorders. The World Health Assembly reported concerns that birth defects were not recognized as a priority in public health.3 During the Seventh International Conference on Birth Defects and Disabilities in the Developing World (ICBD7) in Dar-es-Salaam in 2015, experts and stakeholders from 37 countries reported that children with congenital disorders continued to be left behind in policies, programs, research, and funding 4 The ICBD7 identified several major hurdles and proposed some recommendations to overcome these limitations and discussed plans on how to accelerate the prevention of congenital disorders and the improvement of care of affected children, especially in high burden, low-resource settings globally. It was reported that a review showed the rate of progress in many areas is far slower than needed to meet the targets by 2030. Some of the issues identified that needed urgent attention included the need to improve healthcare data quality and availability, reducing inequalities within and among countries, renewed efforts to reduce infant mortality rate and a critical shortage of skilled manpower and healthcare funding.2 These bottlenecks must be addressed systematically and interventions such as the use of innovative epidemiological tools to overcome lack of data, increased efforts to standardize rare disease nomenclature and classification and renewed interest in birth defects registries by countries in the region must be considered.5,6 Targeted curative and public health approaches currently used in thalassaemia and neural tube defects may be used for other congenital disorders in Asian countries. The program must include an education component for the professionals and public, optimal treatment of the affected patient including safe blood transfusion and iron chelation therapy in beta thalassemia major, cascade screening of the family and population-wide screening, a registry to provide epidemiological data and a preventive program that may include genetic counselling, prenatal diagnosis and preimplantation genetic diagnosis.7 The cost of a total prevention programme has been demonstrated to be 10-20% of the cost of treating the existing affected patients.8 In the case of neural tube defects (NTDs), there is an urgent need for sustained political will to ensure governments and food producers work together to ensure folic acid fortification of food that will increase global prevention of NTDs from the current rate of 13% to a new rate of 34%.9,10 The implementation of congenital disorders-related research, prevention, care and treatment delivery services must be integrated into existing health systems in order to be effective to achieve the targets of SDG2030.
References 1. United Nations Millennium Development Goals Report (2015) New York City, NY: United Nations Economic and Social E Council. Retrieved from http://www.un.org/en/development/desa/publications/mdg-report-2015.htm 2. United Nations (2017). Report of the secretary-general, ?Progress towards the sustainable development goals,? (Report No. /2017/66). New York City, NY: United Nations Economic and Social Council. 3. World Health Assembly (2010) Sixty-Third World Health Assembly - Resolution 63.17. Birth Defects vol 2014. World Health Organization 4. Darmstadt, G.L., Howson, C.P., Walraven, G., Armstrong, R.W., Blencowe, H.K., Christianson, A.L., Kent, A., Malherbe, H., Murray, J.C., Padilla, C.D., Walani, S.R., for the Participant Working Group of the Dar-es-Salaam. Seventh International Conference on Birth Defects and Disabilities in the DevelopingWorld (2016). Prevention of congenital disorders and care of affected children: a consensus statement. JAMA Pediatr 170:790?793. https://doi.org/10.1001/jamapediatrics.2016.0388 5. Aym