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T1: Why is surveillance of birth defects/CDs important – why do we need empiric data?
T2: What are some advantages/disadvantages to mandatory (legislated) reporting of CDs?
T3: What lessons may be learned from other notifiable diseases, such as the national cancer registry?
T4: How can we leverage technology and innovation to improve data collection?
T5: Which other issues pertaining to birth defects do you think need improvement?
CT (Closing Thoughts): Is there anything you feel is important to add to this conversation?
Voluntary versus mandatory reporting of birth defects – is legislation a solution for South Africa?
What are birth defects?
Birth defects, also known as congenital disorders (CDs), are defined as abnormalities in the structure or function of a person, which are present from birth. While some CDs are obvious at birth e.g. cleft lip and/or palate, clubfoot, albinism, others may only manifest later in childhood, adolescence or later in life, such as Huntington’s disease and types of familial cancers.
Who do they affect?
CDs are a global problem and occur everywhere – but over 90% occur in low and middle-income countries, such as South Africa, where more than 95% of CD-related deaths occur.
Serious CDs may result in the death of a patient or disability and contribute significantly to the burden of disease. As countries develop and transition epidemiologically, infectious diseases are better controlled and eradicated, and chronic, non-communicable diseases increase. This reveals the previously hidden burden of CDs which emerges as a health care issue, resulting in an increasing proportion of deaths and disability due to birth defects – as other causes fall away. In industrialised countries such as the USA, UK, Australia etc that have completed epidemiological transition, CDs are the leading cause of death in children. In South Africa, the CD burden is remaining hidden for longer due to the simultaneous disease burdens – with new and emerging infectious diseases and established communicable diseases alongside the growing NCD burden. 
What’s the problem?
The current lack of political commitment and accompanying resources in South Africa is preventing the provision of appropriate and accessible medical genetic services for those affected by or at risk of a CD. In addition to competing health priorities, the lack of empiric data on the scale of the problem is a key factor in the lack of prioritisation of CDs as a healthcare priority. This lack of data also prevents relevant, tailored services being developed at a community level to treat those affected.
Modelled estimates indicate that just under 70 000 live births a year (almost 7%), or one in every 15 babies born, are affected by a CD. However, a recent study indicated that during a six-year period (2006-2014) only 13 252 CDs were reported, indicating underreporting via national surveillance of 98%.  Reasons cited for this were several: poor compliance (quantity and quality), misdiagnosed and undiagnosed CDs due to inadequate clinical capacity, lack of training and coordination, and exclusion of the private sector.
Voluntary versus mandatory notification
The current birth defects notification system is under review and is likely to be incorporated with other disease surveillance under the impending National Public Health Institute of South Africa (NAPHISA). While the new system may integrate new technology, coordination and evolve as an electronic data capture system – if it remains as a voluntary reporting system is compliance likely to improve? If reporting of CDs were to made mandatory in South Africa – following the example of the National Cancer Registry with legislation to make reporting obligatory, compliance should increase.
What is World Birth Defects Day?
World Birth Defects Day (WBBD) is recognised on 3 March every year, and 2018 marks the fourth annual WBBD. Uniting more than 50 international organisations across the globe, WBBD provides a platform to raise awareness around birth defects and advocates for increased economic, political, and intellectual support to improve birth defects surveillance, prevention, care, and research by global communities and countries.
Genetic Alliance South Africa (GA-SA) is an official participating organisation of WBBD, for details see www.worldbirthdefectsday.org
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- World Health Organization, Management of Birth Defects and Haemoglobin Disorders. Report of a Joint who-March of Dimes Meeting. Geneva, Switzerland, 17-19 May 2006, in Human genetics programme, World Health Organization. 2006, World Health Organization: Geneva. p. 1-27.
- Christianson, A., C. Howson, and B. Modell, March of Dimes: Global Report on Birth Defects, the Hidden Toll of Dying and Disabled Children. 2006: New York.
- Malherbe, H., et al., The contribution of congenital disorders to child mortality in South Africa, in South African Health Review 2016, A. Padarath, et al., Editors. 2016, Health Systems Trust: Durban. p. 137-152.
- Lebese, L., C. Aldous, and H. Malherbe, South African congenital disorders data, 2006 – 2014. S Afr Med J, 2016. 106(10): p. 992-995.
- Africa, R.o.S., National Health Act, 2003 (Act No 61 OF 2003). Regulations Relating to Cancer Registration. Government Gazette, 26 APRIL 2011 No.34248. 2011.
Dr Helen Malherbe @GeneticAllianceSA
Helen is the Executive Director of Genetic Alliance South Africa (GA-SA), a non-profit, membership organisation uniting patient support groups, healthcare professionals and other stakeholders relevant to the care and prevention of CDs. GA-SA’s mission is to improve the lives of those affected by CDs through advocacy, support, education and research. She also provides support for families affected by Trisomy 18 (Edwards Syndrome) after having lost her daughter to the condition in 2004.
Helen is also a Post-Doc researcher at the University of KwaZulu Natal, where she was awarded her PhD in April 2017. To date, seven peer-reviewed scientific papers have been published from her PhD study, ‘An investigation into the renewed need for care and prevention of congenital disorders (CDs) in South Africa.’
Tzvi Brivik @lyonsbriviklaw
Tzvi is a director at Malcolm Lyons and Brivik Attorneys which was the first firm in South Africa to specialise in Personal Injury Law, founded in 1965 by Malcolm Lyons. The firm has been responsible for some historical legal decisions including the rights of over 3000 South African victims of an asbestos disease whose cases proceeded in the U.K. Tzvi is a member of the Public Health Association of South Africa (PHASA), Former Executive Committee Member of The Glendale Home For The Mentally Handicapped, Executive Committee of the Cape Town Association of the Physically Disabled, Former President of the South African Labour Lawyers Association (SASLAW), Current Liaison Officer for the Jurisdiction of South Africa and Member of the Governing
Committee of the Pan European Organisation of Personal Injury Lawyers (Peopil), read more. The firm also specialises in legal services pertaining to e-Health.
Dr Elvira Singh
Elvira is the Head of the South African National Cancer Registry (NCR), a division of the National Health Laboratory Service. She qualified with a medical degree in 2000 and completed her specialisation in Public Health Medicine in 2009 when she was awarded the Henry Gluckman Medal for the best candidate in the College of Public Health Fellowship examination. She represents the NCR on the Ministerial Advisory Committee on Cancer Prevention and Control and has a keen interest in optimising cancer surveillance for South Africa. She has a sound knowledge of the South African health system and her interests include health systems strengthening for cancer care, cancer surveillance and epidemiology.
Dr Matthew S. Bramble
Matthew is currently an NIH Fogarty Global Health Fellow based in the Democratic Republic of the Congo and a Staff Scientist in the Dept. of Genetic Medicine at Children’s National Medical Center located in Washington DC. Dr Bramble holds a Ph.D. in Human Genetics from UCLA, where he was mentored by Eric Vilain, M.D, Ph.D. His background has predominately focused on genetic and epigenetic mechanism underlying sex differences in the mammalian brain as well as genetic influences contributing to disorders of sex development (DSD). Lately, Dr Bramble has spent most of his research efforts building genetic capacity within the DRC to expand user-friendly genetic diagnostic tools as well as techniques involved in basic molecular biology/genetics. In addition to building genetic capacity the DRC he also focuses heavily on infectious disease research; predominately Ebola.
Dr Matthew W Darlison BA MA PhD
Dr Matthew W Darlison works in the UCL Centre for Health Informatics and Multiprofessional Education (CHIME), where his role combines teaching, teaching/technical support and research. He is informatics lead and co-head (with clinical lead Professor Bernadette Modell) of the World Health Organisation Collaborating Centre for Community Genetics at UCL, where since 1997 he has been developing and applying informatics approaches to various aspects of community genetics, including surveillance, epidemiology, and education and information for patients, families, communities and health professionals.
Originally trained as a linguist (German and comparative literature), he is an experienced health informatician with a particular interest in applying web technologies to address problems of knowledge dissemination and communication in relation to community genetic services and congenital disorders.