Recognising Rare Diseases – Access And Action

Mobilising stakeholders towards the formulation and eventual adoption of effective rare disease policy to transform patients’ lives

The Rare Diseases Access Initiative (RDAI), in association with Rare Diseases South Africa (RDSA), recently brought together an expert panel to discuss the challenges facing those affected by rare diseases in South Africa and to explore possible solutions.  A three-hour webinar, attended by more than 100 stakeholders, ended with a call for a coordinated approach to diagnosis and care, and for increased equity in healthcare, for people living with rare diseases.

A rare disease is defined as a disease that affects less than one in 2000 people. Approximately 8000 different rare diseases have been described to date and, cumulatively, there are 3.7 million South Africans living with a rare disease.  Keynote speakers included Dr Nicholas Crisp: Deputy Director General National Health Insurance, National Department of Health, Dr Natalie Mayet: Deputy Director at the National Institute for Communicable Diseases and Prof Shahida Moosa: Medical Genetics (Stellenbosch University).

Rare diseases are complex and often affect multiple body systems, requiring expensive specialised and coordinated care.  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 but will also be of economic benefit to the individual and the health system.  Dr Helen Malherbe, Head Researcher, RDSA, emphasised: “There is a cost to not diagnosing and not treating rare disease patients, we just have not quantified that cost.”

Improving access throughout the continuum of care

Early, accurate rare disease diagnosis enables the best clinical outcomes and provides a medical explanation, a prognosis and informs a management plan that is of physical, psychological, emotional and financial benefit to the patient and their family.  Numerous challenges to obtaining a correct rare disease diagnosis include limited access to expertise that is based only in major geographical centres.  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. 

Professor Shahida Moosa, Specialist Consultant in Medical Genetics at Tygerberg Hospital and Associate Professor of Medical Genetics at Stellenbosch University, 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 provide the comprehensive services of a multidisciplinary team with requisite support and collaboration between stakeholders. 

NHI – rare diseases in context

Despite an 8.5% GDP spend on health care, South Africa is among the worst-performing in the world in terms of health outcomes.  Dr Crisp noted that all healthcare providers, public and private, should be accessible to everybody purely based on their need for healthcare.  The National Health Insurance (NHI) is a financing mechanism that intends to change the structure of delivery of the healthcare system in a slow and sequenced manner, with the aim of attaining universal health coverage where no payment is required of any patient at the point of service delivery.

Rare diseases are currently treated in the public sector although there are the obvious limitations of capping of care and rationing of services, which happens even in wealthy countries.  The NHI fund will enable efficiencies that can redirect more money to pay for rare disease products, although there may be a point where it is not cost-effective for the individual or the nation.  Inclusion will be based on the cost-effectiveness of the health product rather than which health product is the least expensive.  Dr Crisp elaborated further advantages of the NHI fund as a single purchaser, “Over time, the artificial intelligence in the system makes it possible for us to understand where the products are being used, by whom, are there variations, and what is rarely used? This enables budget accommodations to be made, particularly in the case of rare diseases, so that the other people living in that area are not penalised for those few who are receiving very expensive care.”

Data collection, monitoring and evaluation

The National Public Health Institute of South Africa will have the functions of conducting research to inform policy and guideline formulation; monitor and evaluate the impact of policy and system implementation; strengthen epidemiology and surveillance; and strengthen advocacy, social mobilisation and partnerships.  Dr Mayet is of the view that these functions can only be achieved through collaborative networks and partnerships with stakeholders.

Specific elements of multiple existing policy and regulatory frameworks for health information systems across South Africa can be leveraged to support a proposed data framework for a rare disease 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, a clearly mapped burden of disease that is matched to environmental exposure, and data that is accessible to the patient and health provider and that can be used for informing action in terms of intervention, prevention and research.

The role of collaborative research in rare disease policy

Ideally, research should be embedded into clinic care and should be aimed at solving particular problems.  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.  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.  The presentations and discussions will contribute to the refinement and acceptance of a framework document which 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 European Union, United Kingdom 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.

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