RareX is a premier conference dedicated to the rare diseases community, bringing together a diverse group of healthcare professionals, researchers, and advocates. This groundbreaking event is designed to foster collaboration, share knowledge, and elevate the conversation surrounding rare diseases in South Africa. Rare Diseases South Africa (RDSA) once again hosted the RareX 2024 conference in February, at the Indaba Hotel, in Johannesburg. With a phenomenal programme of inspiring, knowledgeable speakers, and robust conversations across 3 days, RareX 2024 did not disappoint.
The local landscape and its challenges
On the 3rd day of the RareX conference, there was a discussion on the local rare disease landscape, particularly focusing on the PMB legislation, implementation of current policies such as the clinical guidelines for genetics, and an overview of the legal and regulatory landscape.
Elsabé Klinck, the Managing Director of Klinck & Samuels, gave a firm overview of where patients find themselves in South Africa concerning the legalities and regulations related to healthcare.
We interviewed Elsabe following her RareX presentation to get a better understanding of the legalities and regulations.
Why is there a need to review the legal framework?
Why did we do this?
The research was prompted by the absence of a specific rare disease policy and the recognition of rare diseases in specific laws. The slide set refers to research that was commissioned by the Innovative Pharmaceutical Association South Africa (IPASA).
After engagements with policy-makers and other stakeholders, it became apparent that it is unlikely that policy-makers will develop and adopt any policy specifically for rare diseases, in contrast to other health conditions, or health sector priorities. Understandably, government and regulators would focus on conditions that impact large numbers of patients in the country.
Access to healthcare is however not only limited to prevalent conditions, high-impact conditions, conditions that are of public health importance, or conditions that are communicable or notifiable. Persons living with rare diseases (PLWRDs) are entitled to access to healthcare. The constitutional duty being placed on all, both the public and private sectors, is to ensure progressive realisation of the right of access to healthcare. To achieve that, mechanisms for such realisation must be found.
One such mechanism is identifying which health sector laws and policies would support progressive access to healthcare for PLWRDs.
What does the Constitution say?
We have alluded to the right of access to healthcare above. But that is not the only right at stake when addressing the needs of PLWRDs. There is more than one right applicable to this group of patients:
The first right is the right to human dignity. In constitutional terms, this is a foundational right. Even where rights can be limited under the South African Constitution, such limitation must be done in a manner that aligns with a society that gives due consideration to human dignity. All persons should be able to live their lives in dignity, to have access to the services and goods that make this a possibility. It also means that all persons, including PLWRDs, are entitled to consideration and respect.
The second right is the right to equality. This right goes beyond mere formal equality and has been confirmed early on, in the history of democratic South Africa. The right means substantive equality, i.e. equality in real terms. It therefore includes the concept of experiencing equality, including persons or groups of persons (in this case PLWRDs), who may require additional or extra support to realise their rights. PLWRDs may face obstacles to care that other persons do not necessarily experience. These include, for example, an absence of awareness, lack of training of professionals, lack of diagnostics, minimal treatment options, the cost of care (given the rarity of the conditions and the absence of economies of scale), and so forth. PLWRDs, in some cases, have limited life expectancy, and/or face the risk of disability and difficulty in undertaking the activities of life. The relative vulnerability of a person in society is to be considered when one decides what measures would lead to the achievement of equality. This concept of equality as “substantive”, and not just formal, that looks at the outcome, is also called “equity”.
The right access to healthcare is a human right in the Bill of Rights of the South African Constitution most commonly associated with a rights approach to healthcare. The Constitution states:
27. Health care, food, water and social security.
(1) Everyone has the right to have access to—
(a) health care services, including reproductive health care;
(b) sufficient food and water; and
(c) social security, including, if they are unable to support themselves and their dependants, appropriate social assistance.
(2) The state must take reasonable legislative and other measures, within its available resources, to achieve the progressive realisation of each of these rights.
(3) No one may be refused emergency medical treatment.
Three elements of the right of access to healthcare are evident from this section:
(i) It must be progressively realised, i.e. over time, more PLWRDs must have care, and must also have access to better levels of care;
(ii) There must be reasonable policies and legislation that lead to the achievement of the realisation of the right, which the RDAI research project was about, namely, to find policies and laws that already assist in the realisation of rights of PLWRDs;
(iii) The policies and legislation must realise the rights with the available resources.
This does not mean one can simply discard the right altogether on the assumption that there will not be resources available, it requires the policies and legislation to be reasonable. Does this mean that there must be rationality? i.e. is it rational to simply exclude PLWRDs from the constitutional protection of section 27? What are our reasons for prioritising certain diseases or interventions, and not others? What mechanisms are we using to prioritise? What other rights are we affecting, etc.? Can we create efficiency by leveraging existing policies and measures, such as laws, to realise these rights?
The main laws realising access to healthcare
Many laws give effect to the right of access to healthcare. They include the National Health Act, 2003, the Children’s Act, 2005, medical schemes legislation, the Medicines and Related Substances Act, 1965 and the Promotion of Equality and Prevention of Unfair Discrimination Act, 2000. There is also a law, which has not been brought into effect, the NAPHISA Act (National Public Health Institution of South Africa, which would bring all health and disease data under one roof) and the NHI Act. Although both NAPHISA and the NHI have been signed into law, neither is in effect. The NHI Act will be brought into effect on a section-by-section basis. It however seems unlikely that NAPHISA will ever be implemented, and the electronic patient record and NHI mandatory data-provision to the NHI Fund might overtake that.
The main features of each law, and as it applies to PLWRDs are as follows:
The National Health Act (NHA)
Every person (including non-citizens) has the right of access to primary healthcare in the public sector, free at the point of care. The only persons excluded from this coverage, are medical scheme members and beneficiaries of the Compensation Fund (for occupational injuries and diseases). As PLWRDs require care at the primary level (e.g. scanning and screening, tests, referrals, counselling, etc.), they should be entitled to such care, free of charge.
The NHA also organises the health sector, with the duties of politicians (Minister and MECs for health), officials such as the DG and provincial heads of department outlined, as well as the duties of provinces in giving effect to healthcare. It also creates academic complexes, within which many PLWRDs are provided with care by experts in such centres.
The NHA also creates the empowering framework for all aspects relating to blood, and human tissue, often of relevance in the diagnosis and treatment of PLWRDs.
The NHA contains provisions on health informatics: patient records and the health information system.
Then it creates the legal framework for health research, and ethics in research – another important aspect of importance for PLWRDS.
The NHA is also the system under which regulations should be made to frame the Essential Medicines List (EML), and the Essential Equipment List (EEL). The EML and EEL contain those medicines and devices that must always be available in all health facilities. By definition, rare diseases will never be deemed to be essential, and therefore creating mechanisms to facilitate access to medicines and equipment outside of those needed for common conditions, is equally necessary.
The Children’s Act
Section 11 of the Children’s Act covers not only the generally chronic nature of the rare disease but also its impact on children, which could lead to disability.
This section reads as follows:
11. Children with disability or chronic illness.
(1) In any matter concerning a child with a disability due consideration must be given to—
(a) providing the child with parental care, family care or special care as and when appropriate;
(b) making it possible for the child to participate in social, cultural, religious and educational activities, recognising the special needs that the child may have;
(c) providing the child with conditions that ensure dignity, promote self-reliance and facilitate active participation in the community; and
(d) providing the child and the child’s caregiver with the necessary support services.
(2) In any matter concerning a child with chronic illness due consideration must be given to—
(a) providing the child with parental care, family care or special care as and when appropriate;
(b) providing the child with conditions that ensure dignity, promote self-reliance and facilitate active participation in the community; and
(c) providing the child with the necessary support services.
(3) A child with a disability or chronic illness has the right not to be subjected to medical, social, cultural or religious practices that are detrimental to his or her health, well-being or dignity.
These provisions must be given effect when decisions relating to children are to be made, whether by funders of healthcare, parents or guardians, schools, etc. The decision must create the conditions to ensure the child’s dignity, self-reliance and participation in the community.
Medical schemes legislation
Medical scheme legislation provides some protection to PLWRDs when rare conditions are listed as Prescribed Minimum Benefits (PMBs). In such cases, regulation 8 of the Medical Schemes Act requires of schemes to fund in full, the diagnosis, treatment and care costs of the condition. Although medical schemes may institute managed care mechanisms (e.g. medicines lists and treatment sequencing) that must be on the principle of evidence-based medicine, taking into account cost-effectiveness and affordability.
For rare diseases that are non-PMBs, patients often rely on ex gratia allocations by their schemes and have no rights to “funding in full”. This highlights the importance of the PMB Review, and as medical schemes legislation requires, to consider the inconsistencies brought about by the inclusion of some, and exclusion of other conditions.
Another concern for PLWRDs is that the complaints and appeals system is argued to not set a precedent. That means that each patient must fight the same fight again, even if another patient in a similar situation has already won such a case.
The implementation of co-payments may also hit PLWRDs hard, often as treatments are costly, and even a relatively small co-payment, such as a 20% co-pay, could be prohibitive for many patients. Co-payment should not be unreasonable, and the law creates several instances where co-payments should not be levied, such as where the patient had failed other treatments, or where the patient declined a clinically inappropriate treatment alternative.
Medicines legislation
The registration processes of medicines and the registration of new indications are important for PLWRDs. This must, in terms of the Medicines and Related Substances Act, of 1965, be efficient and assist in increasing access to healthcare.
Section 21 permits the authorisation of unregistered medicines which are often important for PLWRDs where the company that manufactures the medicine is not present in South Africa, or where the medicine is not yet registered in South Africa.
This law also governs the Single Exit Price (SEP) of medicines and contains the prohibition on bonusing and donations. The rigidity of this system, which only applies to the private sector, makes it impossible to donate medicines to worthy causes, such as PLWRDs, or to develop risk-sharing models that could alleviate financial pressure on funders. Although the legislation provides for exemptions, and for regulations to be made to allow alternative reimbursement models (ARMs) for example, no progress has been made to develop and finalise such regulations.
PEPUDA – The Promotion of Equality and Prevention of Unfair Discrimination Act
This Act prohibits discrimination on grounds such as disability but also contains an illustrative list of possible instances of unfair discrimination on health grounds in insurance and such situations. Although a possibility, this law has not been used to challenge unfairness or inconsistencies in rights afforded to non-PLWRDs versus PLWRDs.
What policies could be used to advance the rights of PLWRDs?
The following policies could be used by PLWRDs:
The National Strategic Plan for Non-Communicable Diseases (NSP - NCDs)
2024 is the halfway mark of the NSP NCD, one of the objectives of which is alignment with other policies. Every NCD policy review should therefore also consider rare diseases, according to the principles of substantive equality and human dignity. The NSP NCD also refers to the importance of expert reviews, but there must be an active pursuit of such experts when specific areas of NCDs, e.g. cardiovascular diseases, are considered. The NSP NCD also refers to the establishment of context-specific platforms, which do not at present appear to include PLWRDs.
Policies on Genetics
Two policies are very relevant to PLWRDs are:
Human Genetics Policy Document for the Management and Prevention of Genetic Disorders, Birth Defects and Disabilities, which requires the recognition of this group of conditions, which includes rare diseases, at all levels of care.
There are also Clinical Guidelines for Genetic Services: prevention, screening, diagnosis, management, genetic counselling and palliative care, which guide aspects of treatment and care, and which should be a starting point for the inclusion of more rare diseases into its remit.
Maternal and child health policies
These policies emphasise the competencies and training to include specifically genetics and disabilities into the services rendered as part of the maternal and child health package of care.
Specific mention is made of the necessity to ensure early detection and management of communicable, and non-communicable diseases, which would include rare diseases.
White Paper on The Rights of Persons with Disabilities
There is a significant overlap between rare diseases and disability. In law, health conditions that affect one’s ability to work, etc. are termed “disability” or “incapacity”. In clinical terms, many PLWRDs may be affected by disability.
The most significant aspect concerning some policies that create implementation of this policy, is that it resides within the Department of Social Development (DSD), and would require close coordination between the National Department of Health and the DSD.
Systems policies
There are also policies that create systems and processes. One such policy that is relevant for PLWRDs, is the Referral Policy. This policy is important, especially in light of the maternal and child health policies, and the policies relating to genetic testing, where cases would be identified. Without referrals to appropriate entities (such as those discussed under the National Health Act), effective implementation and protection of rights would be impossible.
Medicines policies
Perhaps the oldest and most advanced policy is that relating to the Essential Medicines List (EML). The National EML Committee (NEMLC) is well-established and could be key in implementing policy change and a changed EML. Following the WHO example, the South African EML could be expanded to cover some 204 medicines for rare diseases.
Although Health Technology Assessment (HTA) has been on the policy radar for many years, HTA and its medicines manifestation, Pharmaco-Economic Evaluation (PEE), have not taken root in South Africa. But also in this regard, the unique features of rare diseases, and the products that treat them, must be borne in mind – patient numbers will never reach those ordinarily required in a PEE.
Where to now?
In conclusion, it is recommended to -
Use identified laws and policies to protect and advance the rights of persons living with rare diseases.
Use laws and policies to ensure reviews, updates and inclusion of rare diseases.
Use existing policy vehicles, such as the NEMLC and expert committees on NCDs, to raise awareness and effect inclusion.
Explore funding options to overcome the current lack of regulatory permissions on donations, such as alternative reimbursement models and discounting models.
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