SRI LANKA: Creating the Ecosystem for Taking Genetics from Bench to Bedside … – Vjira Dissayanake

Vajira Dissanayake:
Thank you very much. It’s a pleasure to be here today, and I would like to begin by thanking
the organizers for having invited me. I’m conscious I’m speaking at 5:30 in the morning
in Colombo. [laughs] [laughter] I think it’s the earliest talk that I have
ever given in my life. [laughs] [laughter] So when I was invited to talk I was really
wondering what to talk at this early. I know it’s going to be a high-part gathering of
global leaders, and I don’t consider myself in that league operating in a research — a
resource-poor setting, as it were, although I really don’t like to say that. The first question that’s asked from me most
of the time when I come to the states is, “Where is Sri Lanka?” So I thought I’ll put
this picture up and tell you that it is in the middle — it is the middle of the Old
World, and the New World is not there. And just to tell you that it’s — the middle
of the Old World meant that it was in the middle of the Silk Road. And if you really
look at the archeological evidence in Sri Lanka, we have coins from everywhere in the
world, which shows that it was actually the middle of the world. And recently one of the
archeologists said that, you know, we were the counterfeiting capital of the world, and
I didn’t like that characterization of Sri Lanka, as it were. But, you know, everybody knows about the pyramids
of — the pyramids in Egypt, but very few — that was 6,000 years ago. But 2,000 years
ago, the twin towers in the world were actually in Sri Lanka, those two buildings up there.
They are Buddhist stupas which are taller. They are more than 400 feet tall. They were
built and stand up to stay in there, and even the most [unintelligible] coveted hospital
in the world is in Sri Lanka. So we had a very advanced civilization at
that time, which went into decline. And the technology that built this also went into
decline and — about a thousand years ago — and we don’t have documentation of that. When the British came to Sri Lanka in the
1800s, we were first to embrace Western medicine, as it were, and some of the earliest institutions
in that part of the world are there. And this is where I am, the Faculty of Medicine, you
know, city of Colombo. And you can see the old colonial buildings, which are standing
up to this day. The unit I work is the Human Genetics Unit
in the Faculty of Medicine Colombo, which was established in 1983 by my professor who
— my boss — who was actually trained in the U.K. I followed him about 15 years later
and also trained in the U.K., and returned back to Sri Lanka in 2004. And up to this
day, we are the only medical genetic center in the country providing clinical genetics,
diagnostic services, and also training, research, and so on. And we serve a population of about
20 million to 21 million people. Now when I went back to Sri Lanka in 2004,
I was, you know, I had this big idea. Okay, I’ve done research let’s go there and set
up a research program, and thought very little about the clinical side of things. But it
didn’t make me long to realize that there was no funding to do research. And the research
came — became a real small component, and it was the clinic that — where we really
had to operate: seeing the patients, catering to their needs, looking after them, and so
on. So I thought I will try to — well, let me
go back. I thought I will try to tell you a little bit about the Sri Lankan health care
system at this point because, you see, although we are not currently strong in research, I
think we have been very efficient in translation of the research findings elsewhere and applying
it in clinical practice. After all, we are all human, and I think, you know, discoveries
made in other parts of the world, which should be broadly applicable in our country. And one of the advantages we have is that
all our clinicians serve a mandatory period of one or two years outside of the country
before they get board certified as consultants; usually in the U.K., Australia. And therefore,
they are — they are, you know, exposed to first-world care. And when they come back,
they practice, I would say, care which is comparable with the U.K., Australia, and that
would mean the rest of the world. So if you look at some of the health indicators
of Sri Lanka, I just thought I’d compare some of these indicators with that of the U.S.
and Singapore, affluent neighbor in our neighborhood. You can see the life expectancy is hovering
about 71 in Sri Lanka, with I think it’s 77 in the U.S. Singapore is slightly higher. If you go to the lifetime risk of maternal
death, I mean, figures are coming down dramatically in our country, and infant mortality, similarly.
And that in a background of economics which look like this. Per capita income of Sri Lanka
standing at 3,000 compared to per capita income 10 times that in the U.S. and Singapore. And,
of course, a health expenditure, which also looks like that. So if you were to talk to the World Bank or
the other funding agencies, which I do very often, they think of us as a high-efficient,
low-cost model. And their, you know, query all the time is why can’t other developing
countries try to emulate that model. So the issue that I face, and a few of us
who are, you know, making the case for genomic medicine, face is that what gains can we bring
through genomics to offset the huge gains that have been made with the conventional
technologies, as it were. And I think we need to, you know, take that into consideration. And you would appreciate that perhaps the
reason only I’m here from kind of a less affluent country is that the people who operate actually
— or the countries which are at that level would find it very difficult to make that
economic case because to, you know, bring in genomics into the picture, to bring down
the, you know, improvements such as we have shown in Sri Lanka. So I think we need to
be cognizant of these facts. So this was — this is a situation that I
face in Sri Lanka in terms of research and the bedside. And so we tried to work on the
bedside more, looking at research happening as we are in the world. So, towards the end of last year, December
— it is an ongoing process — we thought we need to really take — now it’s been almost
10 years since I returned and started developing a unit and a team. And we thought we need
to look at what we want to do, and look at it from a more strategic point of view: strategy,
planning, and development. So we articulated a vision for us and a mission,
which was very much focused on delivering care to the patients. And then we are not
alone in that because we’d by now established collaborations of — with various groups and
networks across the globe. So we didn’t feel, you know, that we were in a developing world
setting. We thought we will embrace it head on. What are the services available in terms of
technology in the country? Mind you, we are the only center which is, you know, delivering
any form of genetic care to the entire population. We have partnerships with one of the private
sector hospitals, which has enabled us to bring in technology and deploy it through
their system, which is also, you know, propelling stuff. And, of course, we’re just in the process
of establishing a next-generation sequencing facility. So these are the technologies, which
are available in the country. Current manpower: It’s about 30 to 40 people,
you know, serving the needs. And our biggest problem is brain drain. I would have trained
70 people in the last 10 years, and all of them — about 60 — have found employment
either in the U.S., U.K., or in Australia. And so it’s a continuing problem. So we are
moving from brain drain to brain circulation and trying to see how we can actually try
to make use of these people even if they’re working abroad. And we have taken various tests to bedside
including some of the pharmacogenomic tests and so on, and they are being widely used.
And, of course, we’ve also established partnerships, such as with the European Molecular Quality
Network, to try and subscribe to their external quality assurance program, and also we are
in the process of working towards ISO accreditation. In terms of research, I think we’ve — we
are now developing various thematic areas. We’ve also, on top of genomics, brought in
a little of stem cell biology because there seems to be interest among the scientists
working with us there as well. And our research collaborations are built
around collaborations we have linked — we have developed with the various professional
medical groups: the oncologists, the surgeons, the neurologists, ophthalmologists, and so
on. I mean, there is some professional group always working with us. And the next layer,
obviously, is the international collaboration. So why do we work with the professional groups?
It is with the view to bring about, you know, continuing if they’re in — with — in research
with us, they will work. And then, of course, we want to use a kind of a online platform
to make them genetically literate so that we can move forward. Otherwise, you know,
we can’t engage them. In addition, we — that’s why we are located
in Sri Lanka. We have been training people from up North, in the middle, and down South.
And, of course, we are setting — we’ve — in June last year, when the International Genetic
Education Networks had their meeting in Colombo, we established a kind of a network of medical
schools in the country. Develop — deliver — you know, proactively engaging in education,
not only of doctors, but also of the allied health professionals. Now with that vision and mission, we’ve — are
now — we are now in the process of articulating certain, you know, translational goals, as
it were. And these are — this is one of them because there is a need from the — from the
oncologists; I won’t go into details of it. We’ve made the case for expanding cancer genetic
services. The — and we’ve — the reasons — the rationale is there, and the strategies
that we have adopted to bring in some of these technologies to the country are also listed
here. Another area that — and I agree with that
statement about, you know, KRAS testing statement about, you know, KRAS testing and, you know,
HER2 tests — KRAS testing, which was mentioned earlier, because that’s the exact, you know,
you know, case that we made to say that this test should be introduced here. And similarly,
we are now in the process of introducing HER2 new testing because in the absence of testing,
every breast cancer patient is getting Herceptin, which is a wasteful thing. Well, prevent and cure thalassemia is also
one of our other goals. Just to dwell a little bit on that because, you know, this is the
big burden that we have still of the monogenic disorders, we have, for example, 3,000 thalassemics
taking up 5 percent of the annual drug budget of the country for chelation, and, of course,
blood transfusion, which is provided free in the Public Health Service, which is leading
to life expectancies of these children going up to 30, 40 years now. And every year, a
million rupees is spent on a child for this, and it’s becoming a huge burden. And, of course,
the lack of other services are also contributing to that, and we are — we are planning to,
you know, help support establishment of those as well. And one of the newer things that we really
want to do is to work with genomics. Last one — last strategy were we want to work
with the primary and secondary modifiers — genetic modifiers of the condition to see whether
the treatment received by these people can be optimized, and these patients can be optimized.
And the condition made a more manageable one. Again, a traditional area, birth defects and
inborn errors of metabolism. We need to work in that area simply because the burden is
what is preventing us from achieving or, you know, making that last mile from like 11,000
infant deaths to, like, six or seven, which is the — in the West because we don’t really
terminate pregnancies. And we do not have a program which is aimed at controlling. We’ve also worked on improving genetic literacy
among medical and allied professionals. And one of those initiatives have been the initiative
that we have with the International Genetic Education Network run by the American Society
of Human Genetics. We had a successful conference in Colombo last June, and we are now in the
process of establishing a South Asia network. And, of course, we also trained the first
geneticist in Nepal. And now Nepal is developing their infrastructure, and we are trying to
help them further so that — even with our resources — so that they could also develop
their services there. So, ladies and gentleman, I think in the past
20 minutes I’ve just taken you through, briefly, on how we’ve, you know, in the setting that
we work in, try to do our best. And I hope that, you know, the next time there is a gathering
like this, maybe in a few years’ time, I’ll be able to say much more about how we — what
we have achieved through the goals that we have set up for the next two years. Thank
you very much. [applause] Male Speaker:
Could I just ask you to — it was brought up in the panel, something about pathogen
sequencing. Could you talk about, you know, given your location and, you know, I think
global health being an important — and infectious disease being, you know, so important — can
you talk about pathogen sequencing? Vajira Dissanayake:
Yeah. I think — I should have mentioned that. I didn’t put all our goals that we had put
up. So, metagenomics is one of the areas that we want to really work on very strongly. And
at the moment, we — I should say we are, you know, articulating our goals on metagenomics.
So, in terms of genetic laboratories, I think the bulk of the work in, you know, genetic
laboratories, especially in the 5 and 6 percent, to be on detection of pathogens. And so that tends to — I think I know colleagues
both in Sri Lanka as well as in India where there’s a lot of work, you know, most laboratories
— genetic laboratories — actually survive on the side business of doing diagnostics
for infectious disorders. And I think there is definitely a case for, you know, introducing
metagenomics and taking that into the clinical realm. And we’re working on it. Yes. Teri Manolio:
I actually wanted to ask you about — Male Speaker:
Oh. That’s okay. Teri Manolio:
Oh, okay. Oh, no, no. Male Speaker:
So, tanks. So you mentioned that you’re using modifier genes, so you screen for modifier
genes for thalassemia? It’s one question. The second question is, are you considering
using hydroxyurea for sickle cell and thalassemia homozygotes? Vajira Dissanayake:
The first question — well, we don’t do it in a clinical setting, as it were. This is
a kind of work in progress. Trying to take research. And secondly, we — no, we don’t
test. Yeah. Teri Manolio:
That was my question. Vajira Dissanayake:
All right. Geoffrey Ginsburg:
Terrific. Thank you. Vajira Dissanayake:
Okay. Geoffrey Ginsburg:
Dr. Anderson, you’re on.

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