The Malaysian Insight

THE government and the Health Ministry need to train more experts in the field of rare disease to allow for early diagnosis and treatment, a clinical geneticist said.

Dr Thong Meow Keong, head of the genetic medicine unit at the department of paediatrics at the Universiti Malaya Medical Centre (UMMC), said this will help reduce the complications and the mortality rate among children who often die of the disease due to late diagnosis.

Experts are also needed to help patients with the rehabilitation process of patients with rare diseases.

“Rare disease is a public health problem. It’s just that it doesn’t come up to the surface to be made known and the patients suffer for it because of this lack of awareness,” Thong told The Malaysian Insight.

“The United Nations General Assembly last year approved a resolution to address the challenges of people living with rare disease, this means that there is official recognition by the world body.

“Unfortunately in Malaysia, there are not many reports on this. Hence, stigmatisation and diagnostic odysseys (where patients are seen by many doctors without a specific diagnosis being made leading to late diagnosis) continue to plague patients.”

The World Health Organization (WHO) defines a rare disease as any disease which affects a small percentage of the general population.

The European Rare Disease Organisation (EURORDIS) defines rare diseases as conditions affecting five in 10,000 of the general population while in Malaysia, it is a disease with a prevalence of one in 4,000 of the general population.

Collectively there are about 7,000 types of rare disease and the rare disease community makes up 5-8% of the population in any country.

Eighty per cent of rare diseases occur due to genetic factors while 20% are due to other factors and it can affect children and adults.

According to Thong, around 30% of patients suffering from rare disease die before the age of five.

“Many of them do not make it and the reasons are many – one of them is because they are under-diagnosed.

“It’s only until they become very ill that they (doctors) are able to say that there is something going on. By then they come to see us, it may be years down the line before a diagnosis is made.”

Have more medical facilities

“When we first started treatment for rare diseases many years ago, it was agreed that allocations be given to all the public hospitals, including the Higher Education Ministry university teaching hospitals where there are clinical geneticists.

“That started in the early 2000s when drugs for thalassemia were allocated. Later on, treatment for lysosomal disease was approved.

“In 2007, most centres did not have the facility to make a diagnosis. Treatment was done at UMMC and the genetics department in Hospital Kuala Lumpur (HKL).

“Subsequently, treatment budget was given to HKL but other public hospitals such as university teaching hospitals and military hospitals have no access.

“Hence, all the patients diagnosed in the teaching hospitals cannot be treated there, so they all have to be referred on to HKL.”

In the late-1990s, Thong was the first board-certified clinical geneticist in Malaysia, but the number of trained clinical geneticists working in Malaysia has now grown to 14.

Even so, many of these specialists are based in the Klang Valley, making access an issue for many out of state or poorer patients.

“Now we have 16 in the national specialist register but two have migrated overseas.

“They are mostly concentrated in the Klang Valley in Universiti Malaya Medical Centre, Hospital Kuala Lumpur, Universiti Kebangsaan Malaysia and Universiti Sains Malaysia in Kota Baru, and Hospital Pulau Pinang,” Thong said.

Now that only HKL is given funding to treat rare diseases, Thong said it has become difficult to train a new generation of doctors and other allied health specialists in this field, as patients with rare diseases have been referred to HKL. The university teaching hospitals have a role to train the next generation of experts to care for patients with rare diseases.

“How do you train a doctor when they have no experience with diagnosis or treating a patient with rare disease? How do you train a pharmacist if they have never seen or had experience with a drug used in rare disease?

“And how do you train the physiotherapist, speech therapist, all the allied health people if they have not even talked to a child with a rare disease? 

“How would the laboratory run a service for rare diseases when there are no more patients to screen or test?” Thong asked.

Another important part of the genetic team treating rare diseases is genetic counsellors, Thong said.

UMMC was the first to train genetic counsellors to enable board-certification in 2003 but genetic counsellors are not yet recognised by the government. The public service department has not created any post for genetic counsellors to date. UKM, too, has trained several batches of genetic counsellors.

“We’ve been trying very hard to get it registered under the Akta Profesion Kesihatan Bersekutu (Second Schedule, Allied Health Professions Act), which although is in the process, is still an arduous journey.”

Quality therapy

For patients suffering from rare diseases, early rehabilitation or intervention therapy is very important as many suffer from speech problems, hearing issues, visual limitations and movement as well as learning difficulties.

“We send them for early intervention programmes such as speech, occupational, and physiotherapy so they can recover.

“Most of these services are available in the public health system, but it is the quality and frequency that’s not there.

“An example is speech therapy, where it will not be useful if it is only available once a month or every two months. It would be a challenge for a child to improve on their speech when they only see a therapist once a month,” he said.

Thong said that in order to get ahead of rare diseases, the government should also introduce screening procedures.

This includes pre-natal screening and expanded newborn screening for inherited metabolic disorders.

“In many countries now there are expanded newborn screening programmes where from a heel prick in the infant, they take drops of blood on a filter paper usually after several feeds or after 24 hours of life. They would screen for 30 or more rare genetic conditions which may cause brain damage if they are missed. Once a crisis occurs,  the patient may be required to be admitted to an intensive care unit and very possibly there may be associated morbidity in the patients.

“This is a new standard of care for newborns in many countries in the world including in the Philippines, Singapore and Hong Kong.”

UMMC started the programme in 2015 but it has yet to be implemented by the MOH.

Pre-natal screening such as non-invasive pre-natal tests and chorionic villus sampling (CVS) can also detect rare diseases, Thong said, but these tests are only available in private hospitals and a few government tertiary centres and these procedures cost a hefty sum.

“We do screening for thalassemia but we are not screening routinely for other diseases. Many of the rare diseases can be picked up during pregnancy because the technology allows it to detect some of these rare diseases.

“CVS is usually done at 11 weeks after genetic counselling and a specific genetic test or chromosome study may be able to confirm whether the foetus is healthy or not.”

If a rare disease is detected, this can give the families an option on whether or not to terminate the pregnancy, he said.

“We understand that termination of pregnancy is allowed in Malaysia in cases where a medical practitioner deems that continuing the pregnancy poses a danger to the mother’s life, physical health, and mental well-being. Abortion in Malaysia is regulated under sections 312–316 of the penal code.

“However, we do take into account the social, cultural and religious sensitivities of termination of pregnancy. During our genetic counselling, we emphasise that it is up to each family to decide whether they want to opt for this procedure.” – June 17, 2022.