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A new policy paper by the think tank IDEAS Malaysia is renewing attention on a difficult reality: while medical breakthroughs now offer life-saving treatments for rare diseases, many Malaysians remain unable to access them due to high costs and systemic gaps. Last year, the Ministry of Health unveiled the National Policy for Rare Diseases, marking a first for Malaysia in recognising rare diseases at the national policy level. However, questions remain about whether the health system is ready to deliver. Is Malaysia structurally prepared to support people living with rare diseases not just in policy, but in practice? On this episode od #ConsiderThis Melisa Idris speaks with Durrah Sharifah Ahmad Azlan, Senior Research Executive at IDEAS Malaysia, and Nadiah Hanim Abdul Latif, President of the Malaysian Rare Disorders Society and Board Council Member of Rare Disease International.
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00:10Hello and good evening, I'm Melissa Idris. Welcome to Consider This.
00:14This is the show where we want you to consider and then reconsider what you know of the news of
00:18the day.
00:18A new policy paper by the think tank Ideas Malaysia is renewing attention on a difficult reality.
00:25While medical breakthroughs now offer life-saving treatments for rare diseases,
00:32many Malaysian patients remain unable to access them due to high costs and systemic gaps.
00:39Last year, the Ministry of Health unveiled its national policy for rare diseases,
00:44marking a first for Malaysia in recognizing rare diseases at the national policy level.
00:51So, the question we want to ask today is whether or not the health system is ready to deliver.
00:57Is Malaysia structurally prepared to support patients with rare diseases?
01:02Not just in policy, but in practice.
01:06So, joining me on the show today, I have the author of the paper, Dura Sharifa Ahmad Azlan,
01:11who is a Senior Research Executive at Ideas Malaysia.
01:15And Nadia Hanim Abdul Latif, President of the Malaysian Rare Disorders Society.
01:21She's also the Regional Representative of the Phelan McDermott Syndrome Foundation
01:26and a board council member of Rare Disease International.
01:31Welcome to the show, both of you. It's good of you to join me.
01:34I'm going to begin with you, Nadia.
01:36Maybe we can take a look at what is described as rare diseases.
01:41I'm curious to know how rare are they? How significant is the rare disease burden in Malaysia today?
01:48Let's start with an interesting paradox.
01:50When we talk about rare diseases, rare diseases are basically defined as conditions
01:55that are individually rare or few in a particular society.
02:00So, the WHO defines it as a birth of one in every 4,000 or more.
02:06So, we know that collectively this number for individual diseases might be small or disorders might be small.
02:12But collectively, they are far from rare.
02:15So, here's the fun fact.
02:16When we talk about rare diseases, in Malaysia we call it penyakit jarang jumpa.
02:21According to the Ministry of Health, we have about close to 500 diseases
02:25that have been considered as rare diseases that is identified by the Ministry of Health
02:30and upwards of 12,000 patients that are seeking assistance in our healthcare systems to date.
02:35Now, that's not inclusive of the fact that rare diseases across the world, as acknowledged by WHO,
02:42is actually between 7,000 to 8,000 diseases.
02:45So, Malaysia is actually quite far off the actual number that is being defined as the WHO.
02:50And if you could guess, the number of people living with rare diseases in the world right now is 300
02:56million plus worldwide.
02:59That's exponentially larger than the population of Malaysia.
03:02And if we combine this, a lot of people don't realise this, but the number of people living with HIV
03:06plus the number of people living with cancer times that by 3 is still less than the number of people
03:12living with rare diseases in the world.
03:14Really? Yes.
03:15Wow. Wait, so why are the Malaysian numbers far off from the WHO estimates?
03:22What explains this discrepancy?
03:24I think the easiest thing to do is, to your point, the system.
03:28Is it ready to diagnose? Is it ready to identify patients that are currently falling through the cracks?
03:34We don't like to call them patients, actually. We call them individuals living with rare diseases or persons living with
03:38rare diseases.
03:39And the reality of it is, if a system is not able to detect, not able to diagnose, not able
03:45to identify them early,
03:47then the chances of misdiagnosis, which you'll see, is exponential.
03:51And a lot of them actually, more of them go through life without ever knowing what their actual conditions are.
03:56Okay, so there is a data gap here, which is why researchers like yourself are really important, Dura.
04:02Your report that you put out recently used spinal muscular therapy as a case study.
04:09And I'm curious to know why. Why SMA? Why was that an example for looking at how the health system
04:16responds to rare diseases?
04:17I think, continuing on with what was mentioned by Puan Nadia earlier,
04:2172% of rare diseases are genetic in nature.
04:27All over the world, we see research being done to develop gene therapies targeting specific genes causing this kind of
04:37rare diseases.
04:39So, in comparison to other treatments, for example, the intention for this gene therapies is that it's a one-off
04:47treatment.
04:48So, but then it comes with a caveat that they are very costly.
04:54So, all over the world, we have like around 4,000 plus gene therapies in the pipeline.
05:00And the ones that have been approved so far from the last time that I checked is like 48.
05:06And in Malaysia, only one has been approved, which is for spinal muscular atrophy.
05:11So, we wanted to use SMA as a case study to explore innovative financing and outcome-based models that can
05:24be replicated for other high-cost rare diseases in the future.
05:28So, it's like a blueprint perhaps for incoming gene therapies which might be accessible in Malaysia in the future.
05:36Excellent. Okay. So, really kind of using this as an example or a person.
05:40Yeah.
05:40When you say it's very costly, can you give me an example of how costly?
05:45Right. So, the one that has been approved in Malaysia, the cost is RM9 million.
05:50And it used to be the most expensive treatment in the world at one point.
05:56But now, I think there's 10 more.
05:5910 more has overpassed that price.
06:01Is that RM9 million per individual?
06:03Yes.
06:03Wow. Thank you for giving me some context.
06:07Okay.
06:07Yeah.
06:08How did you, Nadia, come to be involved in looking at or advocating for a change in the system when
06:16addressing rare diseases?
06:18Well, I think when we're talking about rare diseases, my first foray into this was working with undocumented, stateless refugees
06:24and then it became persons with disability and then it became persons with complex medical diseases.
06:29And when you're looking at the vulnerable population or the marginalised in Malaysia and the compounded challenges that they often
06:35have,
06:36it's very difficult to kind of leraikan, right? Split one issue over the other.
06:41That's intersectionality, right?
06:43The intersectionality is huge.
06:45But when we're talking about why it was a huge red flag on there is a need for systems change
06:51is because within the population of individuals living with rare diseases are the stories of families,
06:58of taxpayers, of people who are actually productive, who are contributing to the economy.
07:02One of the greatest issues that we have is the barrier of stigma. The assumption that you're broken individuals, that
07:08you're a patient, therefore you need fixing.
07:11Okay.
07:11Whereas persons living with rare diseases, many of them are actually, for the lack of a better word, able-bodied.
07:17You wouldn't know that they have rare disease unless they disclosed it to you.
07:20They're actually caregivers themselves. In fact, some of them have complex medical needs and are caregiving for people with non
07:26-rare diseases but also needs.
07:28And what you see is this is a huge missed opportunity for the country if we're only looking at it
07:33from the context of medical cost.
07:36And this is why we're advocating for a whole system overhaul because when you're talking to the rare disease families,
07:43what you would find is while 70% actually manifest in childhood, that means the other 30% are actually
07:50working adults or adults in that productive age contributing back to the economy.
07:55And we know that Malaysia is an aging population, therefore it's an incoming challenge where our children are transitioning into
08:02adulthood
08:02and our adults who are aging are caring for either transitioning or adults and aging people with complex medical needs.
08:09So to me, it's a huge red flag on what the country is going to have to face if we
08:13don't start thinking about this now.
08:15Because just last November, the Minister of Health had declared himself in his speech at the Southeast Asia Rare Disease
08:21Policy Forum
08:22that they're looking at approximately a million people in Malaysia affected by rare diseases one way or another.
08:29Okay. It really does put into perspective why this has been almost an invisible category of people that we need
08:37to include in our public health.
08:40You said something a bit earlier that caught my attention about diagnosis and how it can take a really long
08:46time.
08:48Why does it take such a long time for a diagnosis and why is that such a persistent problem?
08:54Okay. So it goes back to the system issue. Most individuals living with rare diseases across the world and so
09:00in Malaysia take about five to seven years to get an accurate diagnosis.
09:03Very often their conditions mimic other things. So it's not uncommon for parents to get a diagnosis of global developmental
09:10delay or even autism spectrum disorder
09:12when that's actually just a symptom of an underlying more sinister issue that you have not been able to detect.
09:19Now because 70% of these diseases are genetic, that means you probably need either a geneticist or a medical
09:25specialist that thinks,
09:26hang on, let's do one step ahead. What's there?
09:29However, what a lot of people don't realize is out of that, another 30 plus percent are actually caused by
09:35anything else.
09:35So it could actually be conditions, it could actually be an onset of illness, it could be environment which is
09:42what we're also seeing today.
09:43So not all of that is genetic and therefore not all of them are hereditary.
09:47So we have this tweak that we need to do because a lot of people assume that if it's genetic
09:50therefore it's hereditary which is not true.
09:53And so we don't have the doctors to be able to identify, we don't necessarily have the number of labs
10:00and technicians and people who are able to read the reports
10:03and then therefore it goes into the system of do we have enough talent, do we have enough system processing,
10:09once you get the diagnosis what happens then?
10:12And then the follow through. So it's a whole chain reaction, it's not just whether or not you got the
10:16diagnosis.
10:16So quite a lot of our patients end up finding their diagnosis abroad or after having sent their medical samples
10:22abroad.
10:23Oh that's a shame. So how do we, and I'm sure if they're doing this abroad, the financing for that
10:30is even worse.
10:32So Dura, in your report you looked at innovative financing, you proposed outcome based payment models in simple terms.
10:40What does that mean and how do you put it in practice?
10:42I think before elaborating on that, the report does not outrightly suggest OBPM but it works for treatments in which
10:53the outcomes are unpredictable.
10:56So I'll explain it further.
10:57So usually when government buys or procures medicine, they would pay the full price up front but then for the
11:06gene therapy with the cost for example, that would be impossible.
11:11So a simple definition of outcomes based payment model, OBPM is like a pay for performance model, meaning that the
11:20full price is spread over a number of years.
11:23Let's say five years, some countries have been doing that and then the government would pay in stages based on
11:30an agreed milestones or outcomes.
11:34So let's say by maybe in the middle of it, second year, third year, the milestones are not achieved.
11:41So that could be survival for example or there exists complication, side effects from the treatment.
11:49So the agreement is that the government would not need to pay the rest of the cost.
11:56Okay.
11:57So there's this kind of risk sharing model for outcomes based payment model.
12:02Okay.
12:03So for each of the milestones, there's a kind of reassessment.
12:06Yeah.
12:07Talk to me about why this is what you're proposing, why this works.
12:13What other options are there?
12:16If I'm not mistaken, Malaysia had something called a rare disease fund, a trust fund if I'm not mistaken.
12:22Yeah.
12:23Why wouldn't something like that work compared to what you're proposing with the outcomes based model?
12:29Actually, if Puan Nadia would like to add.
12:32Go ahead.
12:34I guess basically maybe it's not enough, I would say.
12:37Okay.
12:38So even the budget for Ministry of Health for rare diseases from our conversations with people from the Ministry of
12:47Health, it doesn't encompass all rare diseases.
12:50So there is a need for more innovative financing model to cover more rare diseases.
13:00Nadia?
13:00Okay.
13:01Not making anyone sound bad, but just stating facts as it is.
13:06The National Rare Disease Trust Fund was really a breakthrough when we did it because the intention of the government
13:11of Malaysia was to entice shared responsibility for the issue.
13:16They knew, and the government of Malaysia is very clear about the fact that it's not going to be able
13:21to fund every rare disease in every space in the country.
13:24So the intention at that point in time was, can we crowdfund together?
13:27That was what the trust fund was about.
13:29Now, understanding that out of the 7,000 plus rare diseases, 95% actually do not have any therapeutic intervention.
13:38So the OBPM that we're talking about today is for that 5% of those that actually do have some
13:43form of medical intervention.
13:45So the other 95% of those living with rare diseases actually don't have any kind of cure, any kind
13:49of medication.
13:50It's more of how to live a life well lived.
13:53So it's not true to say that all rare diseases are expensive, which is a very common misconception and a
13:59miscommunication that happens a lot.
14:01But for that 5% that do have intervention, because it might not be necessarily commercially lucrative to produce a
14:09mass, this price becomes tak mampu milik.
14:12It's not something that can be achieved by the average Malaysian.
14:16And we're talking about anywhere upwards from a few hundred thousand per annum for the rest of your life to
14:22one off in the quantum of millions, depending on what it is that you need.
14:25So SMA is one of the most researched rare diseases in the world.
14:30And that's amazing because this breakthrough helps it to kind of push the forefront for everyone else.
14:35So when we're talking about the trust fund, the straight answer to that is because there isn't enough in there
14:42to even fund long term the number of patients that are coming in and the number of patients that are
14:47being diagnosed versus the money that's coming out.
14:49So because I think one of the, I don't know if this is a misconception, but there's thinking that rare
15:00diseases ought to be maybe looked at from an international global level rather than using limited national resources.
15:09So some of the anecdotal comments that I've heard when discussing rare diseases is that, oh, why is it that
15:15we are looking at this from a national resources level?
15:19Why can't we look at it from say a global WHO coordinated response?
15:24Regional.
15:25Yeah, even regional through ASEAN.
15:27Is that something that you've come across before?
15:29Yes, actually I can answer that.
15:31Last May, MRDS was part of Rare Disease International.
15:35We represented Malaysia alongside the Minister of Health.
15:39We collectively, the world actually managed to push for the resolution for rare, which was the first global resolution on
15:48rare diseases at the World Health Assembly resolution and the first of its kind to reach consensus without any dissent.
15:55So that was the first.
15:57That was last year.
15:57That was a milestone for us.
15:59And when we brought that back, that was when MOH then launched its national policy.
16:04So it was on the back of the fact that the world is now understanding that there are many complex
16:09medical needs that deserve attention, not as just the flavour of the month for WHA, but something that's there on
16:16the agenda every year.
16:17So that's number one.
16:18Now the next point is what happens with the Global Action Plan.
16:21The Global Action Plan, at best, is a declaration of a statement of intent, what the world wants to do.
16:27Now what it needs to do is translate into what it's going to mean for ASEAN, for us specifically, and
16:32then what it means for us at a national level.
16:34So last year in November, which is why I quoted the Minister of Health, is that Malaysia has agreed to
16:40lead the charge for ASEAN to push for an ASEAN declaration of rare diseases, which is meant to happen in
16:48the next 12 to 24 months, while it's still the chair for the ASEAN health cluster.
16:54Now that then ties into our National Action Plan for Rare Diseases, which needs to be brought forth so that
17:00the National Action Plan for Rare Diseases actually talks about funding and innovative financing and diagnostics and talent development and
17:08labs.
17:09As you mentioned, as you rightly pointed out, the issue of cost or value being sort of siphoned out to
17:17other countries because of the fact that we're using other labs, that's also addressed in the policy actually.
17:22The national policy talks about developing the local talent and lab capacities in the country so that a lot of
17:29these diagnostics and therapeutics that actually can be done or at least the diagnostics and the testing can be done
17:34locally.
17:35Your report looked at other areas, so I think financing was just one part and then you highlighted clinical readiness
17:42as part of the developing local talent.
17:45You talked about registries and newborn screening.
17:49I'm very curious about these system foundations. Why are they critical? How do they complement?
17:55So for registries, clinical readiness, newborn screening, they're very critical of course.
18:02For example, newborn screening is important because early intervention is important.
18:07I think there's a past report by a patient advocacy group, SMA Care, where they talk about how 90%
18:15of the damage to the nerves from SMA, for example, happens within the first six months.
18:23So having that early newborn screening is really critical so that you get to administer the treatment for them early,
18:31which is lacking in Malaysia for now.
18:34So clinical readiness too. As what Fuan Nadia mentioned just now, we are lacking in specialists.
18:41Some hospitals are still unaware about rare diseases, about SMA.
18:47We've had interviews with parents who talked about the differences in treatment between their child, somewhat their child who passed
18:56away before, due to the hospital not being able to manage the case well.
19:04Because due to the lack of awareness as compared to other hospitals, which is a bit concentrated in Klang Valley.
19:12So this clinical readiness is really important, especially to not exclude rare disease families in rural areas in other states.
19:23We had a conversation with Prof. Zilphalil Alwi from Kelantan, who is an expert in rare disease.
19:30He mentioned about how in Kelantan itself, there's a lack of specialists for rare diseases.
19:36So that's on clinical readiness.
19:40Was there one more?
19:40Newborn screening.
19:41Newborn screening.
19:43Yeah.
19:43So many great ideas in the world.
19:46Yeah, yeah.
19:46Like our genetic counsellors, medical social workers.
19:49Yeah.
19:50Because it's beyond just administering the treatment, it's also about the physiotherapy.
19:55It's also about the diet as well.
19:57We need dietitians.
19:59Oh.
20:00Yeah.
20:01Nadia?
20:02Yeah.
20:02If I may share sort of a real life story of an SMA family in Kuching, which we visited a
20:08few years back.
20:09Now, what really hit me was the fact that she was actually a nurse that was actually in charge of
20:16the ER.
20:17This was the mother, and the father was a police officer, Bertugas di Semenanjung.
20:21Right?
20:22Unfortunately, when the child was diagnosed with spinal muscular atrophy, there was not the
20:26necessary expertise that was available there at the hospital that the child was at.
20:32And by then, the child had developed into having pneumonia.
20:35So anything with lung infection and respiratory challenges, especially for a lot of these rare diseases,
20:40is dangerous for the lack of a better word.
20:42And the mother was told that if you need help, you might want to contact the SMA associations in KL,
20:50because this is going to go into palliative care.
20:53We don't have the necessary means to assist your child.
20:56If not, you might want to fly your child to Kuala Lumpur.
20:58That naturally never happened, and the child passed.
21:00So when we met the family, the grief of having a mother who is actually a healthcare professional,
21:07knowing that her child is in the system, and having the doctors tell her there's nothing we can do,
21:12despite the fact that we know that there is an orphan drug, we know that there are things that can
21:16be done.
21:16But by the time you diagnose, because she was SME type 1, it was too late as an onset.
21:26When policies are designed, do you think they take into consideration the lived experiences of families,
21:34of people living with rare diseases, of people with complex medical needs?
21:38Are they heard? Are they taken into consideration? Because I do wonder about that.
21:43You're nodding, Nadia. What do you think?
21:47They do, they do, but I think it can be better.
21:50And the reason why I say this is because just the landscape of how rare diseases have progressed in Malaysia
21:57is,
21:59I'd say it's really dynamic. We now have more than 20 different associations championing rare diseases.
22:04Very often they are championing specific rare diseases or a cluster of rare diseases of the same sort.
22:09So, MRDS is one of the few that basically look at cross diseases, so we really don't care what rare
22:15disease that is.
22:16And we work together with NCDs, the neurodiverse group, the cancer group,
22:22because we do feel that a lot of these conditions actually do, like you said, the intersectionality is huge.
22:27But at the same time, when we're talking about driving policy change, my concern is that when we develop policies,
22:34we're developing policies in isolation of the ambit of the different ministries.
22:37When we're talking about solving a problem of equitable health, we cannot just stop at the Ministry of Health.
22:43A huge chunk of this debate also sits with the Ministry of Higher Education, where our teaching hospitals actually sit
22:50under.
22:51So, the ambit and the purview of our research hospitals like PPUM or UMMC, HUKM, TAPTA, all this, even where
23:01Prof. Zipala said in USM,
23:04these hospitals rely on not only the budget but the mandate from the Ministry of Higher Education, not necessarily the
23:11Ministry of Health.
23:12So, what we're seeing is that equity among the service provision institutes within the healthcare system is also not aligned.
23:22We also have the military hospitals, we also have the private hospitals, we also have the outpost for the health
23:29district clinics, etc.
23:30So, when we're talking about whole system, we're talking about cut across all these different ministries.
23:34And then we also have the Ministry of Education, we also have the Ministry of Women, Family and Community Development.
23:41Because if I were to just map it out, the minute your child is born, it will be under JPN,
23:45and then it goes into the Ministry of Women, Children and Family Community,
23:49as kanak-kanak, right, until 4. And then if the child progresses and then goes into schooling age, then it's
23:55the Ministry of Education.
23:56We're talking about inclusive education. And we have so many children living with rare diseases who are unable to go
24:02to school
24:03because they're not necessarily independent to be able to do whatever they need to do.
24:08That means that caregivers and parents who perhaps are even rare disease individuals themselves are having to make very difficult
24:15choices
24:16about do I put this money that I have for the medication of my child or do I put the
24:21child to school?
24:22If I put the child to school and not have the medication, I will have other costs involved in future
24:28that I have to deal with.
24:29If I keep the child at home and I pay for the medication, what about the other siblings that also
24:33need to school?
24:34This daily battle cuts across everything from the Ministry of Human Resources, the Ministry of Finance, of course, is a
24:44huge, huge stakeholder that we have.
24:46In fact, fun fact, we even have issues with the Ministry of Home Affairs because in terms of pendaftaran,
24:53some babies who are born with unassigned gender because of rare disease are not able to get birth sets.
25:00So when we're talking about outcome-based payment model, back to what Ideas was researching, we feel that if there
25:07is a rare disease that's already moving the dial,
25:10and we have data sets coming from other countries of what good can look like, let's see what happens.
25:17Which is why this is a great blueprint of what we want to see within the systems chain.
25:22In the couple of minutes that I have left, I'm going to leave it with you, Dura.
25:25Having put together this report and spearheaded it, I'm curious to know what you would like policymakers to take away
25:32from this.
25:33I think, number one, really, it needs to be patient-centric, of course, you cannot leave them out like what
25:40Nadia mentioned just now.
25:43I think, adding on to what you mentioned also, I think the parents that we engage with, for example, from
25:49the SMA Malaysia Association,
25:51they talk about the psychological burden that the parents face, some of them have to resign, have to retire early
26:00and whatnot.
26:01So you really should look at it from a holistic approach about the impact, the quality of life towards parents
26:08too.
26:09And then secondly, I would also recommend all the basic things that was mentioned just now,
26:16the newborn screening, national registry, clinical readiness, that needs to be put in place beforehand.
26:23And then, I think this might be something uncomfortable too.
26:29I think that more negotiation should be done between the government and the providers of these treatments.
26:36Because research...
26:38To get a better deal.
26:39True.
26:40Yes, because we see in the development of these kind of treatments overseas, through the early research,
26:48a lot of them were actually funded through the public, through public taxes, charities, crowdfunding and whatnot.
26:54So, I think it would be good for the government to negotiate on the cost based on that too.
27:02Yeah.
27:03Great.
27:03Thank you so much both of you for sharing some of your insights and also educating us all on how
27:10to view this matter going forward.
27:13Thank you for your time. I appreciate you.
27:15That's all the time we have for you on this episode of Consider This.
27:18I'm Melissa Idris signing off for Evening.
27:19Thank you so much for watching and good night.
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