My Genomics Journey – hear from our Co-Medical Directors

Dr Sophia Varadkar

A couple of months ago, Hayley Turgoose, one of our Genomics Practice Educators came to join me in the epilepsy clinic.  As we met the children, young people and their families, we looked to see who had had a genetic test done.  I realised that almost of all my patients had had a genetic test and it had almost always been helpful!   

Looking back at the last 10-15 years, working as a Consultant Paediatric Neurologist in the Complex Epilepsy Service at GOSH, we have found ourselves doing more and more genetic testing. The results from genetic testing became more and more helpful year-on-year, answering questions such as ‘why does this child or young person have epilepsy?’ and ‘why are the medications not working?’. Finding a diagnosis, could give families an explanation, stop us needing to do more tests (sometimes we call this the diagnostic odyssey), guide us to the right treatments for these children or indeed tell us when we don’t need to use treatments, and help them and their families plan for their futures.  

This has been really important in the rare genetic epilepsies and also in the genetic epilepsies we now know are actually not so rare. Knowing that a child has a genetic change has opened up new treatments for them available in the NHS. Even if a new treatment isn’t available, having the knowledge of a genetic change can mean that when a new treatment becomes available, they know they will be eligible.  This connects into the new world of precision therapies and pharmacogenomics.    

So, genomics has really changed my clinical practice, what I can offer patients and what we can do in the future. 

Seeing the impact of genetic testing and genomics directly in my clinic really piqued my interest and so when the opportunity arose to become Co-Medical Director of the North Thames Genomic Medicine Service, I was incredibly keen to be involved. I love working with Angela,  she has huge expertise in cancer and cancer genomics.  Together we can bring our skills and complementary expertise in rare and inherited disease and cancer to the service.  

We’ve been in the role for nearly a year now and it has been a great year. I have really enjoyed it! I was of course nervous to begin with as genomics is not my area of clinical expertise, but discovering more and working with amazing colleagues who have so much knowledge has been fascinating.  

It’s been amazing seeing the transformation projects coming to fruition and delivering for patients. It has also been really exciting this year as we have launched the Networks of Excellence, with North Thames leading on circulating tumour DNA biomarkers testing and prenatal genomic medicine. 

I have really enjoyed working with the Patient, Public and Carer Panel. They are a phenomenal group of people with a real interest and lived experience of different aspects of health care. Every time we meet, I come away with new thoughts/questions. It is so important to be challenged and have others highlight areas we may not be considering. I’m looking forward to continue working with the panel in the future, seeing the panel grow and push us in the Genomic Medicine Service. 

In the future, I think genomics will be across all healthcare and will be a part of everything. There is a new study being led by Genomics England called the ‘Generation Study’ and its moving newborn screening into the genomic era by sequencing the genomes of new-born babies for over 200 rare diseases.  

Genomics is going to be part of health care from before a child is born, through childhood and into adulthood and will go across cancer and rare and inherited disease. It will also begin to influence what medicines we choose for our patients – the whole new emerging area of pharmacogenomics.  I can imagine a future where at the beginning of a patient’s diagnosis and journey we can say ‘here are the treatments that are going to work for you’ and ‘here are the treatments that won’t work, so we do not waste time in treatment’ and ‘here are the drugs that will cause you side effects and we need to avoid’.  

Dr Angela George

I started my career as a medical oncologist, specialising in patients with gynaecological cancer. I realised many of the patients I was seeing had inherited conditions that caused their cancer, which is where my interest in cancer genetics started.  

I now have multiple roles; I still work as a medical oncologist and treat patients with gynaecological cancers, and I am a consultant in oncogenetics so I see patients with suspected or confirmed inherited cancer gene syndromes. I also lead the genomics programme at the Royal Marsden Hospital, which involves testing tumours to find molecular changes which allows us to diagnose and treat patients more effectively. 

At its basic form cancer is a disease of genetic changes, when a normal cell accumulates several mutations or molecular alternations it can develop into a cancer. 

What is exciting about genomics, is that by looking for those genomic changes, we can diagnose someone with cancer more accurately and faster. We can select the most appropriate treatment, with our personalised treatments and molecularly matched treatments, which lead to much better patient outcomes and longer survival.  

It also allows us to identify people who may have inherited gene alterations which have caused cancer and allow us to treat the cancer more effectively and reduce the risk of going on to develop another cancer in the future. 

I was first involved in the GMS as the cancer clinical lead and last year I was offered the role as the co-medical director. Alongside Sophia, we are responsible for delivering all the testing for cancer and rare diseases with the GLH and with the GMSA, we are responsible for education, awareness and research. 

It has been a great first year! 

I think the most challenging part was coming into the new role and one where the position had been vacant for some time. The first steps were to figure out what our priorities were and build a new team to do so, we had fantastic support from Lyn Chitty who was the previous medical director. It has been really exciting over the last year to see it all come together and seeing things move forward. 

There have been some exciting projects that the North Thames has been leading on that have made a real difference to patients’ lives. We have led the Circulating tumour biomarker testing NHS Network of Excellence. This Network of Excellence will build on existing projects, such as in non-small cell lung cancer and will expand the innovative test into a range of other tumour types. We have also been involved in setting up the Generation Study, which is a groundbreaking research study which will sequence the genomes of 100,000 new-born babies to see if we can improve our ability to diagnose and treat genetic conditions. 

Something that we are starting to see come through and I think we will see more of in the future is using genomics to identify which patients need adjuvant treatment after surgery, which is additional treatment given after the primary treatment to lower the risk of the cancer. Up until now, we have given a lot of patient’s adjuvant treatment who probably didn’t need it and who have had unnecessary side effects. With ctDNA, we can potentially identify if the patient has residual cancer left in their body and the determine if adjuvant treatment is needed. 

Genomics can also help us identify early relapse of disease, with the use of ctDNA we can potentially identify breast cancer relapse a year before it shows up on scans, giving us the opportunity to intervene. I think in the future genomics will play a role in early diagnosis and being able to pick cancers up at pre symptomatic time points.