A rare disease is defined as a disease that affects less than one in 2 000 people. Approximately 8 000 different rare diseases have been described to date, of which 80% have a genetic origin and are therefore considered congenital disorders. Cumulatively, there are 3.7 million South Africans living with a rare disease, representing a significant 6%-8% of the population. Keynote speakers included Dr Nicholas Crisp: deputy director-general National Health Insurance, NDoH, Dr Natalie Mayet: deputy director at the National Institute for Communicable Diseases and Prof Shahida Moosa, Professor of Medical Genetics (Stellenbosch University).  

Rare diseases are complex and often affect multiple body systems, requiring specialised and coordinated care that comes at a considerable cost to families and the health system. The panellists and audience alike agreed that regardless of the healthcare sector, the South African health system is not geared to respond to the particular challenges that are common to many different rare diseases. Equitable access across the continuum of care for those impacted by rare diseases will extend and improve their quality of life and will also be of economic benefit to their families and the health system. Dr Helen Malherbe,  head researcher, RDSA, emphasised that “There is a cost to not diagnosing and not treating rare disease patients, we just have not quantified that cost.”  

The development of a national rare disease framework for South Africa is an opportunity to address current imbalances in the health system and to provide collaborative care that is appropriate for the individual patient. The creation of a national rare disease policy can support these goals by improving and coordinating the medical and accessory support of patients with rare diseases, as well as through legislation, monitoring and improved communication and networking for the rare disease community.

IMPROVING ACCESS THROUGHOUT THE CONTINUUM OF CARE  

Early, accurate rare disease diagnosis enables the best clinical care, treatment options, access to services and support, increased reproductive confidence and the potential for participation in clinical research. Furthermore, a diagnosis provides a medical explanation and prognosis and informs a management plan that is of physical, psychological, emotional and financial benefit to the patient and their family. Challenges to correct rare disease diagnosis are numerous: there is limited expertise with very few medical geneticists, genetic counsellors and bio-informaticians in South Africa and six of the nine provinces do not have access to medical genetics clinical services; there is little communication and coordination between specialities; there is no South African guideline for undiagnosed rare diseases that can be used to support clinicians in effective pre-and post-diagnosis management, and many families experience problems moving between clinics or provinces for sometimes multiple appointments in a month. Katryn Fourie, the Witwatersrand/National Health Laboratory Services genetic counselling manager and lecturer emphasised the dearth of locally available and appropriate screening and diagnostic tests.    

Further, the cost of genetic testing represents a significant barrier to access; these tests are generally self-funded by many patients across the public and private health sectors. Genetic testing using international laboratories that offer a wider range of screening and diagnostic services at a significantly lower cost is not funded by medical schemes.  

Professor Moosa explained that for families with rare diseases, the journey to a diagnosis becomes an odyssey that is punctuated by multiple tests and investigations, some that are painful and invasive and many that are unnecessary and that despite consultation with numerous specialists, many are still  left without a diagnosis or find themselves on a misdiagnosis odyssey.”   

The transition from disjointed to coordinated care for those with rare diseases can be effectively managed by the creation of ‘centres of excellence’ that offer the comprehensive services of a multidisciplinary team to provide continuity of care, with requisite support from other stakeholders (Figure 2). Centres of excellence enable collaboration between stakeholders to improve the equitable provision of public healthcare and opportunities for research, as well as the development of registries that can inform guidelines, policy and legislation. 

NHI – RARE DISEASES IN CONTEXT  

Dr Crisp shared his insights on rare diseases in the context of the national health system. Despite an 8.5% GDP spend on healthcare, South Africa is among the worst-performing in the world in terms of health outcomes. Rare diseases are currently treated in the public sector although there are the obvious limitations of capping of care and rationing of services, which do happen even with wealthy countries. The transition of the health system will enable greater efficiencies with the implication that there will then be more money to pay for rare disease care, although there may be a point where it is not cost-effective for the individual or the nation. Technical reference committees that inform decision-making on the most appropriate diagnostic and treatment modalities are currently comprised only of clinicians who interface with the patients, although Dr Crisp agrees that it is not always ideal that patient representatives are not included in these committees.   

DATA COLLECTION, MONITORING AND EVALUATION  

Dr Natalie Mayet contextualised existing institutional frameworks and policies relative to rare diseases. The National Public Health Institute of South Africa (NAPHISA) will have the functions of strengthening epidemiology and surveillance, conducting research to inform policy and guideline formulation; monitor, and evaluate the impact of policy and system implementation and strengthen advocacy. Dr Mayet is of the view that these functions can only be achieved through collaborative networks and partnerships with stakeholders.   

Of the divisions within NAPHISA, non-communicable disease and environmental health are relevant to the framework of a rare disease. Dr Mayet specifies these two divisions because “Ideally, we want to come to a point where we map environmental exposure to understand the associations between exposure and the burden of rare diseases.” There are multiple existing policies and regulatory frameworks for health information systems across South Africa and specific elements of these frameworks can be leveraged and strengthened to support a proposed data framework for a rare disease/congenital abnormality surveillance plan.  

“This data framework is underpinned by healthcare professional capacity building and a robust communication strategy,” Dr Mayet noted. She describes Utopian outcomes of a rare disease data framework as enabling cost-effective maternal and new-born screening, precision public health, clearly mapped burden of disease matched to environmental exposure, data that is accessible to the patient and health provider and that can be used for informing action for prevention intervention, and research.  

THE ROLE OF COLLABORATIVE RESEARCH IN RARE DISEASE POLICY 

Ideally, research should be embedded into clinical care and should be aimed at solving particular problems. Key guiding principles underpinning collaborative research in rare diseases is that it must be multidisciplinary, patient-centric, translational and sustainable. The generation of statistically robust evidence from the trial setting is challenging in rare disease research due to low patient numbers and the ethical implications of including children in such studies, and this limits the development of treatments. There are few natural history studies of rare diseases and lay expertise is overlooked in the setting where patients, clinicians and scientists are widely dispersed.   

Collaborative research on rare diseases can increase awareness, improve accuracy and speed of diagnosis, advance treatments and improve access to treatments, improve the quality of life of affected individuals, and further the understanding of the mechanisms of disease. The research contributes to and develops international patient registries and biospecimen repositories, as well as the monitoring, evaluation and sharing of data. The prioritisation of national and provincial rare disease research will provide greater access, opportunities and support for patients while allowing for the quantification of the burden of disease and contributing to patient registries aligned with biobanks. Dr Malherbe is of the view that “Collaborative research combined with collaborative coordinated care including diagnostics, therapeutics and access, is necessary to ensure that nobody is left behind.”  

SUMMARY AND WAY FORWARD 

“South Africans living with rare diseases could have extended and improved lives if they are able to freely access appropriate and affordable healthcare services without barriers,” said Kelly du Plessis, on behalf of the RDAI. These presentations and discussions will contribute to the refinement and acceptance of a framework document that calls for action on the part of patients, healthcare practitioners, government, researchers, payers and industry towards a national coordinated and collaborative approach. “Our goal is to put South Africa on par with other countries such as the EU, UK and BRICS, by having a National Rare Disease Policy. Participants concurred that without a Rare Disease framework and policy, South Africa is falling behind other countries and our chance of achieving universal healthcare is diminished,” she concluded. 

 

About the RDAI: 

The RDAI was formed as a coalition of interested groups, with the aim to promote an environment which is favourable for those with rare diseases.  Participants in the RDAI and supporters of the objectives are the Board of Healthcare Funders (BHF), the Health Funders Association (HFA), the Innovative Pharmaceutical Association South Africa (IPASA), and Rare Diseases South Africa (RDSA).  

For further information contact: 

Sharon Pruss 

Rare Diseases South Africa (RDSA) 

Cell:   +27 83 292 5506 

Office: +27 10 594 3844 

Email:  support@rarediseases.co.za