FLG: Can you introduce yourself and your work?
I’m Gemma Chandratillake. My background is as a molecular geneticist, but I’m also trained as a genetic counsellor and have been working in the clinical genomics field as it’s emerged over the years. I’m currently the Education & Training Lead for the East Midlands and East of England Genomic Laboratory Hub in the NHS. The UK is currently rolling out its new genomic medicine service whereby the country has been divided into seven regions with their own laboratory hubs, through which all genomic testing will now take place. In each of these laboratories, there is an Education & Training role, and I cover the East Midlands and East of England which has a population of around 9.8 million. We have a total of 32 NHS Trusts that we provide and support the genetic services for, and my role is to engage with all the healthcare professionals in the region and let them know about the new service, what tests are available, how to order tests, and provide genetics and genomics training to help them implement testing as needed.
FLG: What motivated you to pursue a career in this field?
I’m a geneticist through and through. For my undergraduate degree, I specialised in genetics, and then did a master’s and PhD all studying the molecular basis of rare genetic diseases. I then re-trained as a genetic counsellor. For me, it’s really about making the science make a difference in real people’s lives. So I’ve moved from studying the science of rare diseases, to actually trying to help a person who has a condition understand and manage it, and make sure they get the tests and the advice they need. Attempting to implement this work at scale has taken me into an educational role. Some diseases are very rare and clinicians don’t know about them so they may not recognize what is going on for a patient. While genetic conditions are each rare, there are lots of them so many people are affected. 1 in 17 people has a rare disease, 80% of which are genetic. We know that there are many people who are dealing with clinical symptoms of rare diseases without necessarily ever being diagnosed. I guess my motivation is really bringing the science into healthcare. I was a scientist, but I’m really now interested in applying science to help patients.
FLG: How is genetic testing being carried out across the NHS today?
At the moment, genetic testing across the NHS is patchy, which is the reason for the whole restructure and central commissioning. The old way of genetic testing across the NHS had various laboratories which offered different tests. Different commissioning existed in different parts of the country, and so in different parts of the country you might get different access to different tests for the same conditions. What we’re trying to do now is join all the services up with central commissioning for the tests that are listed in the national test directory. The idea is that all patients who meet particular clinical criteria should be able to have the same test, wherever in the country they live.
What we should see, and what the aim is, is to get a lot more equity of access to genetic testing, so that it shouldn’t rely on you having to live close to a large academic centre with a clinical genetics team. We want to mainstream genomic testing, instead of having all testing done via referral to clinical geneticists. This means, for example, cardiologists will be able to order testing for genetic cardiac conditions, oncologists can do testing for hereditary cancer predisposition conditions, and ophthalmologists can do testing for genetic eye conditions. So, the aim is to try and democratise genetic services within England.
FLG: Why do you think we are seeing an increase in the demand for genetic data across the whole genomics field?
Well, it’s partly to do with the fact that it’s now possible to generate a lot of data. Since around 2011, it’s become possible to do exome and genome sequencing at a price that is compatible with large research projects and everyday health care, and that’s why these tests have become clinically available. What you’ve got is a combination of cheaper sequencing technology and cheaper computing capabilities so that you can manage the large data sets that are involved in genomic data. Those two developments have facilitated the work.
So, it’s not so much that there’s a demand, it’s more that there’s an ability to do it. But in implementing this type of testing, there’s been a realisation that in order to really interpret an individual’s genome, you need a lot of population genetics data in the system. We’re doing a lot more sequencing in the research setting because we need to make sense of the sequencing data that we generate clinically; in order to interpret the sequence that you have in front of you for your patient, there needs to be lots of data to compare it against.
There’s been a huge international effort to collect that data and make it sharable, or at least the aggregate data viewable, so that we can use it in our interpretations for patients. For example, if there is a patient in the UK with a rare disease and another person in Canada with the same rare presentation, the clinicians may want to connect with each other to try and see if the patients share a genetic basis to their disease or not. It’s a very internationally collaborative effort.
FLG: What do you think is the most exciting thing happening in genomics right now?
Honestly, this might sound very cheesy, but I think what we’re trying to do in the UK is one of the most exciting things happening in the world right now. We are unique in having a national healthcare system where we can pair genetic data with clinical data, and this provides a powerful opportunity for the UK to be able to implement genomic medicine at scale and make a real difference to patient care.
There are some very amazing projects around the world, such as in the US, in Canada, and in Australia where they’re rolling out genomic testing. But the difference here is that it’s all within one healthcare system. In the US, you might have a healthcare system that’s doing a lot of work with, say, 4 million people, but in England we have more than 55 million people. In that sense, it’s harder to do here due to the size of the operation, but it’s very exciting compared to anything else that’s happening around the world.
The fact that we have a mandate for equity of access to testing and research is very exciting as well, and I think that’s why I’m working on this here right now. This is where everything we’ve ever wanted to do can be done; we can really make a difference for cancer care and rare disease care across the board. With the sort of healthcare system we have in the UK, equity of access for the whole population is a unique driver and is also one that gives you the numbers to be able to derive some quite powerful data and make new discoveries.
FLG: What breakthroughs do you see happening in 12 months or 5 years?
With some of the amazing things that are happening in research and pharma, we’re really starting to see things like gene therapy come alive. We’re starting to see targeted drugs and repurposing of drugs for rare diseases, some for conditions which haven’t had any treatment ever. I think pharma has become much more interested in the rare disease space. So, for rare diseases I think it’s really exciting that you’re moving rapidly from a situation where people were symptomatic but not necessarily diagnosed, to having the power in the healthcare system to make such diagnoses, to a huge paradigm shift in that actual treatments are becoming available as well. So that’s really exciting. I think this will continue to happen over the next year, five years, 10 years, and I believe people are starting to have faith in that process.
In cancer, we’re starting to really bring the research into clinical practice. We will be doing a lot of testing of tumours with large gene panels, and this will have multiple effects. One is that it’s going to make cancer treatments more personalized, knowing which drugs are the most suitable for which patients more clearly. Instead of being confined to the research domain, such personalised treatments will be more available as routine clinical care. We’ll also routinely be able to find more patients who have a hereditary predisposition to cancer, who were not picked up by any kind of family history indication, which will expand opportunities for preventative care.
I think pharmacogenetics is another area to watch. Once you start looking at a patient’s whole genome and their pharmacogenetic profile along with their cancer genes, you can identify which drugs are best for them and those they may have an adverse reaction to. Implementation of pharmacogenetics will probably take longer than we think it will, but we should see some pharmacogenetic testing being rolled out quite soon. But one thing this will really rely on is adoption of clinical guidelines because, at the moment, there’s a real gap here for clinicians. In some countries such as the Netherlands, people have their pharmacogenetic profile on a card in their wallet, whereas we aren’t really doing much at the moment here in the UK. But there are people that are working very hard to try and make it happen so definitely watch that space!
FLG: Why are you participating at the Festival of Genomics this year?
I live day to day, deep in the “launching the genomic medicine service” world, but I don’t think that it’s a widely known development. I think there’re many healthcare professionals and members of the public that don’t know that we’re launching this service in the NHS this year. We’re obviously excited to tell people about it and raise awareness of it and let them know how they can learn more and get involved.