Helen Louise Malherbe

Prevention of Congenital Disorders and Care of Affected Children: A Consensus Statement

As the Sustainable Development Goals are adopted by United Nations member states, children with congenital disorders remain left behind in policies, programs, research, and funding. Although this finding was recognized by the creation and endorsement of the 63rd World Health Assembly Resolution in 2010 calling on United Nations member states to strengthen prevention of congenital disorders and the improvement of care of those affected, there has been little to no action since then. The Sustainable Development Goals call for the global health and development community to focus first and foremost on the most vulnerable and those left behind in the Millennium Development Goal era. To maximize the opportunity for every woman and couple to have a healthy child and to reduce the mortality and severe disability associated with potentially avoidable congenital disorders and their consequences for the children affected, their families and communities, and national health care systems, we propose priority measures that should be taken urgently to address this issue.

Under-5 mortality and the contribution of congenital disorders in South Africa

447 June 2018, Vol. 108, No. 6 Under-5 mortality and the contribution of congenital disorders in South Africa To the Editor: The article ‘Child mortality in South Africa: Fewer deaths but better data are needed’,[1] which appeared in the March 2018 SAMJ Maternal and Child Health Supplement, reviews nationally representative mortality data and the causes of death in children under 5 years of age in South Africa (SA). Two different terms are used synonymously without definition in this article – ‘congenital disorders’ and ‘congenital abnormalities’. By definition, congenital disorders (CDs) are abnormalities in structure or function present from birth, including inborn errors of metabolism.[2] Congenital abnormalities (often used interchangeably with ‘congenital anomalies’) are a subset of CDs, previously defined in the literature as obvious structural abnormalities as categorised in Chapter XVII: ‘Congenital malformations, deformations and chromosomal abnormalities’ in the International Statistical Classification of Diseases and Related Health Problems (ICD-10) – which excludes a third of CDs included elsewhere in the ICD-10.[3-6] Congenital abnormalities are also referred to by Bamford et al.[1] as a separate entity from non-communicable diseases (NCDs), contrary to the World Health Organization (WHO) definition of CDs as an NCD and the concept of CDs as being the first NCD experienced in life.[7-10] Excluding CDs from this disease category has implications for achieving the Sustainable Development Goal (SDG) 3 target of reducing premature mortality from NCDs by one-third.[11] While the abovementioned article highlights potential underestimates in the vital registration data of deaths due to HIV infection and malnutrition, this consideration is not given for CD diagnoses omitted from death certificates.[1] This is despite the parallel between these diagnoses in being omitted as the correct recorded cause of death (contributory or otherwise) due to reluctance with regard to HIV cases and non-/misdiagnosis of CDs. The Child Problem Identification Programme (Child PIP), in particular, has cited a lack of clinicians necessary to make accurate diagnoses as a limitation in the cause of death categorisation.[12,13] The recommendation by Bamford et al.[1] to scale up interventions to reduce deaths from emerging causes of under-5 child death includes congenital abnormalities, which have risen from 3.9% in 2011 as a proportional cause of death to 5.9% in 2015. Combined with the simultaneous reduction in infectious diseases, e.g. diarrhoea and pneumonia, this is indicative of the ongoing positive epidemiological transition in SA.[9,14] Following the trend of high-income countries where CDs account for up to 28% of under-5 deaths,[15] it is imperative that these interventions include relevant medical genetic services for the care and prevention of those affected by and at risk of CDs. With up to 70% of CDs potentially prevented or cured and subsequent disability ameliorated, the potential impact of addressing CDs cannot be ignored owing to the sizeable proportion of preventable child deaths.[16-19] This makes the prioritisation of CDs key to reducing preventable child and neonatal deaths and to attaining the SDG targets.[11] For the quality of data in death notification forms to improve, capacity must be increased to ensure the accurate diagnosis of CDs as the cause of death for both neonatal and child deaths. With tertiary-level genetic services available in only 3 of the 9 provinces and national surveillance grossly underreporting CDs, there is much room for improvement.[20,21] It is anticipated that the restructuring of disease surveillance, including CDs, under the National Public Health Institute of South Africa (NAPHISA) will rectify some of these issues, but more targeted action is required.[22] To achieve the SDG 3 target to reduce the SA under-5 mortality rate from 37 40 deaths per 1 000 live births to the required target of ˂25 per 1 000, a 37% reduction is required.[1,11] Previously unprioritised health issues, including CDs, must now be addressed for this target to be reached. The literature is clear on the role of comprehensive medical genetic services in significantly reducing child mortality. With an infant mortality rate of 27 33 deaths per 1 000 live births, SA is long past the point of 40 infant deaths per 1 000 live births, when countries should implement these services.[1,8,10,16,23] To meet SDG 3 by 2030, the role of CDs in neonatal, infant and child mortality must be comprehensively addressed as a priority in SA.

Congenital disorders: epidemiological methods for answering calls for action

The importance of congenital disorders (also called birth defects) as a cause of early death and disability becomes increasingly apparent as countries pass through the development window and background mortality falls (Malherbe et al. 2015). Consequently, there is growing recognition of the need for their care and prevention, particularly in low- and middle-income countries. In 2010, the World Health Assembly (WHA) expressed concern that birth defects are still not recognised as a priority in public health, and called upon its member states to strengthen the prevention of congenital disorders and provision of care for those affected (World Health Assembly 2010). Nevertheless, the 2015 International Conference on Birth Defects and Disabilities in the Developing World concluded that “as the Sustainable Development Goals are adopted by United Nations member states, children with congenital disorders remain left behind in policies, programs, research, and funding” (Darmstadt et al. 2016). In fact, two WHO regional offices (those for the Eastern Mediterranean and South-East Asia) have responded to the call from World Health Assembly. In the process, both have encountered important barriers to the development of health policy in this area. Firstly, policy requires a sound epidemiological base, but in most middle- and low-income countries, the combination of (a) limited resources for the correct and accurate diagnosis of congenital disorders and (b) inadequate information systems leads to gross under-estimation of the contribution of congenital disorders to early death and disability (Christianson et al. 2006; Christianson and Modell 2004; World Health Organization 1999). Secondly, the extreme diversity of congenital disorders makes them difficult to grasp collectively at a strategic public health level. Thirdly, these problems are compounded by failure to agree and implement precise and rigorous technical terminology (World Health Organization 2006). The database described in the following articles—the Modell Global Database of Congenital Disorders (MGDb)—has been developed in order to overcome these barriers to service development.

The case for the genetic nurse in South Africa

The care and prevention of congenital disorders (CDs) is an emerging but unprioritised health need in South Africa (SA). Inadequate empirical data and underreporting conceal the true burden of CDs while medical genetic services to confront the problem have regressed. Positive epidemiological transition in the country now demands these services are improved to significantly further reduce child mortality. Current sector capacity in SA is inadequate and required personnel targets will not be reached quickly enough to meet the growing health need even if relevant posts are designated. Historically, genetic-trained nurses played a defined role in primary healthcare (PHC) by recognising and diagnosing common CDs and counselling patients and their families, while referring complex matters to the limited tertiary medical genetic services available. Policy changes to redress past inequalities and other healthcare priorities resulted in genetic services being incorporated into PHC, with few genetic nurses retaining their genetic services role. While the medium- to long-term aim for SA would be to develop medical genetic services with appropriate capacity at all levels of healthcare, there is an urgent short-term need to provide basic medical genetic services in PHC. Central to achieving this is the upgrading and re-implementation of the previously successful Medical Genetics Education Programme (MGEP). This post-graduate distance learning, education programme is implemented with the Congenital Disorders Course Book, a distance education tool promoting independent, home-based learning. Together, these tools offer an approach to swiftly build up a nursing workforce with improved knowledge and skills in medical genetics.