An article in Spotlight examines the challenges faced by South Africans with rare diseases.
A rare disease is a health condition affecting a small number of people compared with other diseases commonly identified in the population. According to the World Health Organization (WHO), there are between 5000 and 8000 known rare diseases worldwide, affecting an estimated 400 million people.
According to the advocacy group Rare Disease South Africa (RDSA), about 3.6 million people in SA have a rare disease. In South Africa, the ability to diagnose a rare disease is hindered by a lack of capacity and resources, according to research, putting the time to diagnosis for rare diseases in general higher than the estimated 5.5 to 7.5 years in high-income countries.
“There is still low recognition of genetic disorders among specialists. And when they are recognised, testing remains expensive and requires sophisticated levels of training which are relatively limited,” says Prof Karen Fieggen, a medical geneticist at the University of Cape Town (UCT).
According to her, costs, skills, training, and human resource factors are all barriers to effective testing and diagnosis. But she says the rationale to build an effective system is solid.
“We have capable people and expertise to build this system, but until you invest in it, it won’t be big enough to be self-sustaining,” she says.
Prof Fieggen acknowledges that resources are stretched in the public sector, where specialists who carry out genetic testing for rare diseases must meet the needs of a larger part of the population. However, she notes, “there’s no guarantee you’re better off in the private sector”.
“There are very few genetic referral options, and none of the medical geneticists are kept in work full time,” she says. In Cape Town, for example, she says that all patients seeking genetic testing had to come to the private sector until recently. “We have the capacity to train seven specialists a year, but posts aren’t available for them to take,” she says.
At one per 4.5 million population, available medical geneticists in the public healthcare sector fall far short of the 21 per 2 million recommended by the WHO. These services are also spread unevenly through the country. The country’s heavy burden of HIV and TB is partly responsible for this lack of coverage.
While healthcare training must focus on these public health needs, Prof Fieggen says rare diseases need a sensible approach. “It doesn’t help to throw huge resources at something that will have minimal management impact,” she says. “But the way in which rare diseases have been relatively ignored isn’t constructive.”
Helping the recognition of rare diseases and referral pathways in physician training may make a difference. “One thing that could be instilled in training is to recognise that if things are atypical in their presentation, there should be a discussion with a referral centre,” says Associate Professor Ian Ross, a senior consultant endocrinologist at UCT and Groote Schuur Hospital.
Only 2.5-5% of rare diseases have approved treatments, some of which are prohibitively expensive.
The most expensive drug in the world is Zolgensma (generic name onasemnogene abeparvovec), a once-off treatment costing a mind-blowing USD $2.1 million (R 30m). Used to treat inherited spinal muscular atrophy, where infants with the condition are unlikely to see their second birthday. However, even this is available through the UK’s National Health Service, which struck a deal to bring prices down.
Du Plessis says these drugs are not on the essential medicines list because of the small group of patients they would serve. “The essential medicines list is dedicated to treatments that are procured in large numbers. Rare diseases will never be mass-market drugs.”
Such drugs can be purchased by hospital pharmacists so they can be available at a certain hospital, making for a haphazard situation.
To help address this inequality, RDSA held a Rare Disease Symposium on 25 August, inviting feedback on a draft policy framework from various medical sector and political stakeholders.
The framework has a definition for rare disease in SA, namely a condition affecting one in 2000 people or fewer. It also recommends including rare diseases in the NHI benefit package. The NHI bill also includes a Benefits Advisory Committee, which will determine what diseases get coverage,
However, Dr Nicolas Crisp, Acting Director General for Health, said that the NHI would not ring-fence funding. As medical insurance will be done away with, it will be crucial to secure funding for those extremely expensive drugs unaffordable to the private sector.
Source: Spotlight
