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54
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Introduction
Current institution
Additional affiliations
September 2021 - August 2022
June 2019 - June 2021
June 2017 - June 2019
Education
January 2013 - March 2017
Field of study
- An investigation into the renewed need for the care and prevention of congenital disorders in South Africa
September 1992 - September 1993
September 1988 - July 1991
Publications
Publications (54)
Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases. A global reference is needed to establish a mutual understanding to inform a wide range of stakeholders for acti...
Objective
Neural tube defects (NTDs) are serious, life-threatening birth defects. Staple food fortification with folic acid (vitamin B9) is a proven, effective intervention to reduce NTD birth prevalence. Mandatory food fortification with folic acid was implemented in South Africa (SA) in 2003. This article provides an overview of NTD birth prevale...
Rare diseases (RDs) are individually rare but collectively common, affecting an estimated 1 in 15 individuals in South Africa (SA). Patients with an RD often face a long diagnostic odyssey (>5 years on average) and many obstacles in accessing healthcare. A scoping review was conducted to assess the impact of the COVID-19 pandemic on the SA RD commu...
Community genetic services were introduced in South Africa almost seven decades ago, with medical geneticists and genetic counsellors being formally recognized for the past 30 years. Initial training platforms were established at academic centres countrywide, and posts for relevant healthcare professionals, including medical geneticists and genetic...
Timely diagnosis is a crucial first step for individuals with rare diseases, significantly affecting their access to treatment, care, and overall well-being. Patient organizations have actively engaged in advocating for Newborn Screening (NBS) to raise awareness about rare diseases. This article examines the efforts of six patient organizations wor...
Individualised treatment, including genetic services, calls for an increased role of primary healthcare practitioners (pHCPs) in diagnosing and caring for individuals with genetic conditions. PHCPs' genetics knowledge and practices must be current to ensure adequate care. A scoping review was conducted to explore peer-reviewed articles on the knowl...
Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital...
Worldwide, comprehensive newborn screening (NBS) now includes a clinical examination at birth, hearing screening, pulse oximetry measurement for congenital heart defects, and biochemical screening to identify congenital disorders early in life, preventing irreversible damage, early mortality and enhancing overall health outcomes. This article provi...
Achieving a diagnosis for Indigenous people living with a rare, often genetic, disease is crucial for equitable healthcare. The International Rare Disease Research Consortium convened a global Task Force to bridge the gap in diagnosing Indigenous rare diseases, and identify solutions to tackle the health inequity faced by Indigenous people.
Genetic testing and services are crucial in modern healthcare. Genetic testing is increasingly important in the diagnosis and treatment of more common diseases as well as rare diseases. Primary healthcare practitioners (HCPs), including general practitioners (GPs), are often the first contact point for patients seeking genetic information. However,...
Background:
The growing application of genetics in individualized treatments calls for an increased role of primary healthcare practitioners (pHCPs) in diagnosing and caring for individuals with genetic conditions. PHCPs' genetics knowledge and practices must be current to ensure adequate care.
Method:
A scoping review was conducted to explore peer...
The aim of this scoping review was to determine the scope, objectives and methodology of contemporary published research on congenital anomalies (CAs) in sub-Saharan Africa (SSA), to inform activities of the newly established sub-Saharan African Congenital Anomaly Network (sSCAN). MEDLINE was searched for CA-related articles published between Janua...
Birth defects, also known as congenital disorders, are a significant health issue impacting at least five million births annually worldwide. For policymakers to mount a relevant healthcare response to care for those affected, the burden of disease of
these conditions must be quantified. Estimates of the contribution of birth defects to under-5 chil...
In South Africa (SA), 1 in 15 people are affected by a rare disease (RD), equating to 4.2 million people. RD patients are often marginalised and resources are preferentially allocated to other health priorities. The Covid-19 pandemic exacerbated pre-existing barriers to healthcare services for RD patients. This scoping review consolidated the docum...
Background:
Despite being underreported, orofacial cleft lip/palate (CLP) remains in the top five of South Africa's most common congenital disorders. Maternal air pollution exposure has been associated with CLP in neonates. South Africa has high air pollution levels due to domestic burning practices, coal-fired power plants, mining, industry, and...
Background
Genetic testing and services are becoming increasingly important in generalised healthcare. Genetic information is now used in the diagnosis and treatment of more common diseases and is no longer restricted to solely rare diseases. General practitioners and other primary healthcare practitioners are often the first port of call when a pa...
Computer-aided facial diagnostic tools are valuable emerging technologies for the early detection and initial diagnosis of congenital disorders. These tools require large datasets of facial photographs, especially of infants and children, to identify these disorders and improve classification accuracies. Researchers need to balance this need for la...
Background
It is twenty years since the human genome was published. The role of the primary healthcare practitioner (pHCP) in diagnosing and caring for individuals with genetic conditions is envisioned to increase as this knowledge is applied to enable individualised treatment. It is imperative that their genetics knowledge and practices stay curre...
The aim of this project was to optimise the referral of patients from Rare Diseases South Africa (RDSA) to clinical genetics services offered by members of the Medical Genetic Group (MGG) and Genetic Counsellors South Africa (GC-SA), clinical subgroups of the Southern African Society for Human Genetics (SASHG).
The aim of this project was to develop an online system to allow patients to register, store and share their personal and disease history data in a secure, user-friendly way.
Clinicians are increasingly using regenerative medicines to repair, replace, regenerate or rejuvenate lost, damaged or diseased genes, cells, tissues or organs. In South Africa, access to these novel gene therapies and cell and tissue-based products is limited. The human leukocyte antigen (HLA) diversity and a paucity of suitable HLA-identical unre...
Congenital disorders (CDs), defined as abnormalities in structure or function present at birth, are an important contributor to the disease burden in developing countries. The size and extent of the problem in South Africa (SA) are unknown due to the lack of recent, reliable, observed data on CDs. To address this empirical data gap, this study aime...
Congenital disorders (CD) remain an unprioritized health care issue in South Africa with national surveillance underreporting by > 95%. This lack of empiric data contributes to an underestimation of the CD disease burden, resulting in a lack of services for those affected. Modelling offers estimated figures for policymakers to plan services until s...
Down syndrome is one of the most common chromosomal anomalies affecting the world's population, with an estimated frequency of 1 in 700 live births. Despite its relatively high prevalence, diagnostic rates based on clinical features have remained under 70% for most of the developed world and even lower in countries with limited resources. While gen...
The North-West University's Centre for Human Metabolomics (CHM) is in the process of establishing the first rare disease (RD) biobank in South Africa and Africa. The CHM Biobank's main focus is on the collection of samples and information for rare congenital disorders. Approximately 72% of all RDs have a genetic origin, of which 70% have an exclusi...
Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Co...
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- a...
Background. Congenital disorders (CDs) form a major challenge for those affected, and for the structuring of services around their health needs. In South Africa (SA) the size and nature of the problem are unknown because reporting of CDs has been unreliable.
Objectives. To ascertain the occurrence and spectrum of congenital disorders in children d...
A letter to the Editor of the SAMJ in response to the article "Child mortality in South Africa. Fewer deaths but better data are needed" published n the March 2018 SAMJ Maternal and Child Health Supplement.
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...
Congenital disorders (CDs) are abnormalities of structure or function present from birth, including all disorders caused by environmental, genetic and unknown factors, whether evident at birth or manifesting later in life. CDs, including rare diseases, are the first non-communicable diseases experienced by people and affect 6.8% or 1 in 15 live bir...
Background. The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date.
Objectives. To ascertain the effec...
To the Editor : The article 'Where do children die and what are the causes?', which appeared in the April 2016 issue of the SAMJ, provides an overview of the causes of death in under-5 children in the Metro West geographical service area of the Western Cape for 2011. It highlights the proportion of under-5 deaths from congenital abnormalities (obvi...
The 4th edition of the Guidelines for Maternal Care in South Africa published by the National Department of Health in 2015 was evaluated with relevance to the care and prevention of congenital disorders (CDs). Disparate terminology is used for CDs throughout the guidelines, and overall less detail is included on CDs compared with the previous editi...
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 str...
Medical genetic services for the care and prevention of congenital disorders have declined significantly in recent years due to competing health priorities, with previously developed services becoming compromised. With an infant mortality rate of 28/1 000 live births, South Africa (SA) has passed the threshold of 40/1 000 when such services should...
Reduction in child mortality has been a priority issue in South Africa leading up
to the Millennium Development Goals. However, the contribution of congenital
disorders (CDs) to child mortality is yet to be recognised and acted upon.
Rapid reductions in child mortality have resulted largely from comprehensive HIV and
AIDS programmes and interventio...
Congenital disorders (CDs) are a common, critical health issue affecting one in every 15 live births in South Africa (SA) and are the 3rd leading cause of death in neonates.
Genetic services ensure that those affected with CDs, including those disabled as a result, can live and reproduce as normally as possible through prevention and care, preven...
The lack of prioritisation of congenital disorders
(CDs) in healthcare,
and the limited resources
allocated to prevention and to the care of those
affected, is an issue of global concern. This is
especially true in low- and middle-income countries
(LMICs), where over 90% of CDs currently occur, resulting in 95% of
CD deaths worldwide.[1,2]
In 2010...
World Health Assembly Resolution WHA63.17 of 2010 recognised the importance of congenital disorders as a cause of stillbirths and neonatal deaths. South African legislation entitles those affected by congenital disorders, including the disabled, to the ‘best possible patient care’ in the prevailing circumstances and prevention by appropriate interv...
Questions
Questions (2)
Folic acid fortification of staple crops became mandatory via legislation in South Africa in 2003. The change effected by this fortification in the birth prevalence of neural tube defects (NTD) was reported by Sayed et al in 2008, comparing pre-fortification and post-fortification rates and the cost benefit was also assessed.
Although the legislation still stands, poor surveillance of birth defects overall in South Africa means there is a lack of data on NTDs. Is anyone monitoring the folate fortification levels of staple crops in South Africa (other than required monitoring Dept of Agriculture) as a followup to the work by Sayed?
I can find little in the South African literature after Sayed et al 2008 related to folate fortification in the country. I would like to know if there is monitoring and regulation of folate fortification and if so, who undertakes this - Dept. of Health/Dept of Agriculture. This is necessary to maintain the 30% reduction of NTD in the country. Is anyone looking at this around the country please?
Many thanks.
