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.