Rare disease advocates call for registry


Assoc Prof Asrul (right) says that one of the main problems with setting up a rare diseases registry is the lack of ICD-10 coding, which affects how data on these diseases can be collected. Listening to him is Zabidi, whose son has Sly syndrome (mucopolysaccharidosis VII).

How do you convince the Government that your particular medical problem needs money?

Especially when said medical problem comes under the umbrella of rare diseases.

With non-communicable diseases like diabetes, cardiovascular disease and cancer affecting so many Malaysians – and by extension, taking up much of the Health Ministry’s budget – how do you get any attention for diseases that only affect one in a few thousand people?

Says Hospital Kuala Lumpur’s Paediatric Department head Dr Hishamshah Mohd Ibrahim: “In Malaysia, because we are a higher middle-income country, our emphasis has always been to prioritise healthcare where the needs are most glaring.

“So, in that sense, when we devise our national programme, we tend to put our resources more towards the commoner causes of disease that can result in higher mortality and morbidity.”

He adds that for rare diseases, the small number of cases and few treatment options, with those options that are available being very expensive and not easily accessible, make budgeting for them very challenging.

Rare diseases, registry, lysosomal storage diseases, Malaysian Lysosomal Diseases Association, Lee Yee Seng, Star2.com
In the 10 countries Lee has been to as MLDA president, no NGO can come up with sufficient funds to completely cover the treatment for rare disease patients, only the Government has enough resources for that, he says. — Photos: Handout

However, the senior consultant paediatrician and paediatric haematologist-oncologist says: “Rare diseases, being rare in themselves, are very costly if you look at one individual patient, but if you look at the big picture – that they are part of our community – for us to show humanity, we need to handle the less fortunate in our community the best that we can.

“That goes to show our values as human beings, to be empathetic to those who are less fortunate than us.”

He points out that the Government actually provided a specific allocation of RM10mil for rare diseases in the 2018 Budget.

This is an increase over the RM8.5mil allocated annually in the Budget since 2009.

However, according to the Malaysian Lysosomal Diseases Association (MLDA), the average cost of enzyme replacement therapy (ERT) for one patient ranges between RM500,000 and RM1mil a year.

This means that only a limited number of patients can benefit from the annual allocation.

Although rare diseases affect a comparatively small number of people individually, collectively, the number of these patients is significant.

According to the University Malaya Specialist Centre, around 16,500 of the 550,000 Malaysian babies born every year are afflicted with congenital abnormalities, the majority of which are caused by rare diseases.

Says Dr Hishamshah: “I have a lot of positive feeling that the ministry is still going to support rare diseases further, but we need to actually demonstrate that the health dollars that we spend are health dollars that are well spent.

“For that, you actually need to have outcome data, and for that, you’ll actually need to have a very good registry for rare diseases.”

Registry challenges

Rare diseases, registry, Dr Ngu Lock Hock, Star2.com
According to Dr Ngu, there are now better lab facilities for testing rare diseases, better accessibility to treatment, and more clinical geneticists to treat patients, compared to when he first started practising 16 years ago.

A registry is a place where all the official records of something – in this case, rare disease patients – are collated and kept.

According to Dr Hishamshah, there are 32 national disease registries in Malaysia.

As someone who has been involved in the setting up of a few registries himself, Dr Hishamshah recalls suggesting a rare diseases registry about 10 years ago to his then-officemate, consultant paediatrician and geneticist Dr Choy Yew Sing, who was treating patients with rare diseases, but without any specific budget for them.

Says Associate Professor Dr Asrul Ahmal Shafie: “I think, in our current age, what we always need is information.

“And I think this is what is lacking in Malaysia – we cannot describe how big the problem is because no one can actually give the percentage, the right figure, the size of the problem, and even if there is such problem.

“And if let’s say, someone says, ‘I can give you money’, we cannot say how much because we do not know the exact size of the problem.”

The Universiti Sains Malaysia (USM) social and administrative pharmacy lecturer notes that a registry would provide epidemiological data (i.e. the “who, when, where and how” of the disease) and prevalence (number of cases) of each of the rare diseases.

However, there are a number of challenges that face the setting-up of a national rare diseases registry.

“One of the biggest challenges to collecting data is having the people and infrastructure to support the collection,” he says.

Manpower is needed to enter the data accurately, and dedicated software needs to be available to collate the information.

Assoc Prof Asrul adds that a more specific challenge for rare diseases is the lack of ICD-10 coding.

ICD-10 is the 10th, and latest, revision of the World Health Organization’s International Statistical Classification of Diseases and Related Health Problems.

This classification provides an internationally-standardised way of defining and categorising diseases.

However, rare diseases are not properly provided for in the ICD-10. This makes it more difficult to enter data accurately and in a consistent manner for a registry.

Rare diseases, registry, Dr Hishamshah Mohd Ibrahim, Star2.com
Dr Hishamshah says that the health information available from a registry is very important in providing advice to policymakers for healthcare spending.

Hospital Kuala Lumpur Genetics Department Clinical Division deputy head Dr Ngu Lock Hock notes that there are between 6,000 and 7,000 rare diseases, many of which are genetic in origin.

He says: “It’s not to say that the Health Ministry does not have these statistics; at the individual clinics, we do have all these statistics.

“But, as Assoc Prof Asrul highlighted, many of these rare diseases do not have ICD-10 coding, so, a lot of times, they are probably classified as ‘other’ diseases.

“If you look at the health statistics by the Health Ministry, a lot of diseases are ‘congenital’ or ‘other’ conditions.

“These rare diseases are inside there, but you cannot identify them as separate entities.”

The consultant paediatrician and clinical geneticist adds that it is also essential for there to be an accurate diagnosis in the first place.

“That is a challenge for rare diseases.

“Some rare diseases require a very difficult diagnostic pathway – some need difficult and specialised tests to confirm the diagnosis,” he says.

“Because there are so many different types, there is no single doctor who will be familiar with every condition.

“So, if we want to have a registry, it will really need a concentrated effort from every party – not just geneticists, but also paediatricians, cardiologists, ophthalmologists, every discipline.

“Because a patient with a rare disease may not just see a geneticist, they may present to an ophthalmologist or a cardiologist or another specialist,” he adds.

Rare diseases, registry, Dr Asrul Ahmal Shafie, Star2.com
Assoc Prof Asrul (right) says that one of the main problems with setting up a rare diseases registry is the lack of ICD-10 coding, which affects how data on these diseases can be collected. Listening to him is Zabidi, whose son has Sly syndrome (mucopolysaccharidosis VII).

Improvement over the years

However, Dr Ngu notes that things have certainly improved since he first started practising clinical genetics in 2002.

“At that time, we had very little access to all these treatments for rare genetic diseases and to diagnostic facilities.

“But over the last 10 to 15 years, we have slowly built up our capacity in our laboratories in the Health Ministry to diagnose all these rare diseases.

“And for those rare diseases that we do not have tests in the country, the ministry actually provides funding for outsourcing, so we can actually send the test to laboratories overseas,” he says.

For example, when MLDA president Lee Yee Seng’s two daughters were first diagnosed with Pompe disease in 2005, it took two to three months for the test to be sent to Australia and analysed.

Today, Dr Ngu says the test can be done in two weeks locally.

He adds that tests for almost 80 genetic diseases can now be done in Malaysia.

“In terms of treatment, at the time when I joined, it was very difficult to access drugs for these rare diseases and the special milk formula needed to treat rare inborn errors of metabolism.

“But over the years, the Government has provided dedicated funds for these patients.

“And in fact, if you compare to other countries in Asean, we are probably the only country where the patients can come into the clinic, pay RM5 and get all the drugs and special milk they need,” he says.

The number of clinical geneticists in the country have also increased over the years, although the number is still quite small – around a dozen in total.

All of them are based in the Klang Valley, except for two in Hospital USM, Kubang Kerian, Kelantan, according to Dr Ngu.

He shares, however, that the eight geneticists in Hospital Kuala Lumpur frequently provide consultation to other doctors around the country via phone and e-mail, as well as take turns running monthly clinics at the general hospitals in Penang, Johor Bahru, Kuching, and Likas in Sabah.

As Lee says, it is hope that keeps us alive.

Dr Hishamshah, Assoc Prof Asrul, Dr Ngu, Lee and MLDA vice-president Zabidi Ali were speaking at a group dialogue held recently at Hospital Kuala Lumpur, in conjunction with World Rare Disease Day, organised by the biotechnology company Sanofi Genzyme.

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