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Alternative methods to help treat rare disease patient

By Tan Shiow Chin | 8 March 2023

Newborn blood spot testing, also known as a heel prick test, allows a baby’s blood to be tested for 40 to 50 inherited metabolic diseases, as well as providing the option for genetic sequencing to detect other rare diseases. — TNS

Over the last few years, the annual Budget has regularly included a special allocation for rare disease patients – an amount that was gradually increased over the years.

In the old Budget 2023, tabled in Parliament on Oct 7, 2022, this allocation was increased to RM25 million from Budget 2022’s amount of RM20mil.

The former was never passed due to the dissolution of Parliament soon after its tabling for the 15th General Election.

In the new Budget 2023, tabled in Parliament on Feb 24, 2023, there was no specific allocation for rare diseases announced.

With many competing diseases and health interests, financing for rare diseases can be a tricky matter.

In Malaysia, the definition of a rare disease by the Health Ministry is one that affects less than one in 4,000 people, or about 0.01% of the population.

While the number of rare diseases in the world is often quoted as being between 5,000 to 8,000, the US non-profit organisation (NPO) Rare-X estimated that there are 10,867 rare diseases globally in its The Power of Being Counted report published last May (2022).

Of this number, the report states that only 500 have a treatment option available.

The US-based NPO Institute for Clinical and Economic Review’s White Paper titled The Next Generation of Rare Disease Drug Policy: Ensuring Both Innovation and Affordability, published last April (2022), states that: “When available, treatments for rare diseases have been shown to provide larger health gains on average than drugs for more common conditions.”

This is particularly so in the case of cell and gene therapies, which can often give life-changing results – some of which can even closely resemble a cure.

But these innovations come at a high price.

According to a report by US political advocacy and health insurance companies’ trade association AHIP, the prices for rare disease drugs, also known as orphan drugs, are 25 times higher than drugs for other conditions.

The 2019 report titled The Rise of Orphan Drugs also found that the average annual orphan drug cost rose from US$7,136 (RM31,994) in 1997 to US$186,758 (RM837,329) in 2017.

In addition, it noted that 88% of orphan drugs cost more than US$10,000 (RM44,835) per year per patient.

Long-term societal costs

Despite such high costs, anyone with compassion would certainly not advocate just abandoning rare disease patients to fend for themselves.

Long-term societal costs

Prof Thong, seen here with the 2022 American Society of Human Genetics Advocacy Award, points out that anything that will save a life and reduce disability will be cost-effective in the long run, based on the Markov Model. He is the first non-American to receive the award, which was given for his rare disease advocacy work. — LOW BOON TAT/The Star
Prof Thong, seen here with the 2022 American Society of Human Genetics Advocacy Award, points out that anything that will save a life and reduce disability will be cost-effective in the long run, based on the Markov Model. He is the first non-American to receive the award, which was given for his rare disease advocacy work. — LOW BOON TAT/The Star

Despite such high costs, anyone with compassion would certainly not advocate just abandoning rare disease patients to fend for themselves.

Universiti Sains Malaysia professor of pharmaeconomics Dr Asrul Akmal Shafie points out that treating such patients and allowing them to achieve the best quality of life possible not only affects the patient and their family, but society as well.

“Patients who are born with these rare diseases need caregivers, who usually come from the family, so you have loss of productivity there, not only for the family, but also for society,” he says.

Universiti Malaya Medical Centre (UMMC) consultant clinical geneticist Prof Dr Thong Meow Keong agrees, citing the use of the Markov Model, which, in pharmacoeconomics, is often used to estimate the cost-effectiveness of treatment programmes.

“If you do Markov modelling, anything that will save a life and will reduce disability, will be cost-effective,” he says.

The cost to society is not only in terms of the lifetime costs of treating and managing the patient’s likely lifelong disabilities and the loss of their ability to be a productive member of society, but also the loss of their caregiver’s ability to likewise be a productive member of society, as their efforts would be focused mainly on taking care of the patient.

The lifetime financial burden to such families with a disabled child can be enormous, he says.

Such unseen costs can also sometimes spill over to other members of the family.

Hospital Tunku Azizah (HTA), Kuala Lumpur, consultant paediatric neurologist Dr Poorani Anandakrishnan shares how whenever one of her spinal muscular atrophy (SMA) patients has to be hospitalised, their sibling comes along and misses school for as long as the patient’s hospital stay.

This has been occurring frequently enough that she is worried for the sibling’s education, but the family has no other care options available to them.

Managing the Trust Fund

At the same time, governments need to be realistic about the limited amount of funds that can be provided for such treatments.

Even Singapore, which is a high-income nation with a relatively small population, has established a Rare Disease Fund to help pay for these treatments.

Similar to Malaysia’s own Rare Disease Trust Fund formed last July (2022), Singapore’s Fund is powered by public donations, which are given tax breaks.

In Singapore, the donations are given a tax deduction of 2.5 times the amount.

For Malaysia, it was announced in the old Budget 2023 that donations to our Fund would get a 10% tax exemption; however, there was no mention of this in the new Budget.

In addition, the Singaporean government has pledged to top up three dollars for every dollar donated to their Fund.

Prof Asrul notes that it is essential for the Fund, which is a collaboration between the Health Ministry and rare disease non-governmental organisations and associations, to be professionally managed.

This is to ensure that it is sustainable in the long run – ideally, with additional income being generated through investment of some of the initial donations to provide a reliable and continuous finance stream to pay for the rare disease treatments.

With the high cost of rare disease drugs, it would be quite easy to blow through millions of ringgit within a year or two if the fund is not managed carefully, he points out.

Another important factor is to have a prioritisation mechanism in place.

He says: “This prioritisation mechanism will allow us to be rational, and not too emotional, when deciding on how to manage and use these funds.”

Along with health technology assessment tools, he says that patients should also be given a voice through the mechanism, so that they can share how exactly a treatment can affect their life.

Having an objective mechanism in place will also help decrease any potential conflict between different rare disease groups who would naturally want to fight to get as many of their own patients treated as possible.

Financing models

Other ways the Government can help reduce the cost and increase accessibility of rare disease treatments – in particular, new, innovative ones – is by providing incentives for pharmaceutical and biotechnology companies to develop such drugs locally.

“When we think about what would be the best health financing model to ensure that the rare disease drug is available, we have to start from the beginning.

“From the development itself, we have to create an incentive good enough for the manufacturer to provide the drug at a reasonable price to the patients, and at the same time, we have to make sure the patients can access this new drug in Malaysia.

“We need to create an ecosystem that allows this financing model that we want,” says Prof Asrul.

Aside from tax breaks to incentivise drug research and development, he says that Malaysia can also negotiate for conditional coverage.

Under this concept, the Government would agree to pay a negotiated price for a new drug depending on whether or not the drug achieves certain clinical outcomes in the patients.

This would help provide the body of evidence needed to approve the drug for sale in the country, as well as provide access to a market of patients for pharmaceutical companies, and vice versa.

A variation of this method is by negotiating a price-volume agreement, i.e. the Government would agree to buy a certain amount of the drug for a reduced price.

Prof Thong points out that China, with its large population, managed to bring down the price for the SMA drug nusinersen by 95% through negotiations for inclusion in its public medicine insurance scheme.

“Bulk purchasing is possible in South-East Asia because we have Asean,” he says, adding that the high- and middle-income nations in the group can combine to form a negotiating bloc with the power of their combined populations.

Early detection

To go even further back in the process, both Prof Thong and Prof Asrul are in favour of implementing newborn screening (NBS) for rare diseases.

It is essential for the Rare Disease Trust Fund be professionally managed, with a prioritisation mechanism in place to rationally select which patients get funded, according to Prof Asrul. — Filepic
It is essential for the Rare Disease Trust Fund be professionally managed, with a prioritisation mechanism in place to rationally select which patients get funded, according to Prof Asrul. — Filepic

Prof Thong says that UMMC was the first public hospital to start an expanded screening programme for rare diseases in all newborns delivered there since 2015.

“The Health Ministry screens newborns for two conditions right now using cord blood.

“They send the blood for G6PD (glucose-6-phosphate dehydrogenase) and TSH (thyroid-stimulating hormone).

“Basically, both these conditions cause intellectual disability,” he explains.

“But to expand this, they need to collect blood from babies at 24 hours after delivery from a heel prick.

“This is for a screening programme for inherited metabolic diseases.”

The blood, which is essentially four dried drops on a filter paper, is sent off to undergo tandem mass spectrometry to look for 40 to 50 of such diseases.

The same blood sample can also be sent off for genetic sequencing to detect suspected rare genetic diseases, he says.

According to both professors, Malaysia is woefully behind our neighbours when it comes to NBS.

Says Prof Asrul: “We are way, way behind other countries, even among other middle-income countries like the Philippines.

“We always complain that it’s because we don’t have enough resources, but we actually do.”

He points out that during the Covid-19 pandemic, the Government coordinated inter-ministry resources to carry out the high volume of Covid-19 tests that needed to be done.

“They actually established a registry listing which university had which equipment so that they could quickly send off samples, rather than overloading the IMR (Institute of Medical Research),” he says.

This shows that the resources to carry out expanded NBS is possible – it just requires the right policies, he adds.

Early detection of rare diseases will enable doctors to start treatment while the child is young and minimise as far as possible any disabilities.

This will not only reduce the burden on the family, but also the public healthcare system in the long run.

Healthcare professionals needed

In tandem with NBS however, genetic counsellors are also needed.

“Genetic counsellors are very important to support all kinds of rare disease patients.

“Genetic counselling is about educating people, sharing options and helping them to cope.

“They are the link for patients in terms of getting support, advocacy and many other things,” explains Prof Thong.

The main issue when it comes to these healthcare professionals, according to him and Prof Asrul, is that there is a lack of such positions available in the civil service.

Both professors know of nurses who have completed their training in genetic counselling, only to end up back in a nursing position with no commensurate increase in pay because there is no position available as a genetic counsellor.

Prof Asrul shares: “Because of the constraints to the budget, the government has already instituted a freezing of government posts because they are aiming to reduce the government staff.

“And the policy will be enforced until 2025.

“What is happening is that, in order to enforce the policy, they will not create any new posts, and they will also not be able to replace those who retire, resign or pass away.”

In a similar vein, Prof Thong laments how the Higher Education and Defence Ministries’ hospitals do not get any budget to treat rare diseases.

As such, these hospitals often have to refer their patients to Health Ministry hospitals, which do receive such an allocation.

This has the unintended side effect of hamstringing training programmes involving rare diseases.

“In the long run, all teaching hospitals will have no access to patients with rare diseases, especially those with treatments.

“And we can’t train doctors, specialists, pathologists, scientists, technologists, pharmacists, rehabilitation physicians, social workers, etc, in this area,” he says.

“For me, it is a strategic problem for the country, because the gestation period to train all these specialists takes years.

“You will see the effect years down the line when you lack doctors who are trained in these diseases.”

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