Monday 28th November 2016


Genetic Testing in Teens and Young Adults

Stephen Sutton was an exceptional young man who made a huge impact as a Teenage Cancer Trust ambassador and fundraiser. Despite an incurable diagnosis, Stephen remained positive and determined to make a difference up until he passed away in May 2014. To date, Stephen's Story has raised over £5.6 million for young people facing cancer. Over two years on from his very sad and untimely death from a rare form of familial bowel cancer called Lynch Syndrome, his mother, Jane Sutton, and official Ambassador for teenage Cancer Trust, speaks openly and candidly about the problems aroud obtaining an early diagnosis for Stephen.

At the Teenage Cancer Trust’s 9th International Conference, which is also the 1st Global Adolescent and Young Adult (AYA) Cancer Congress, in Edinburgh this December, Clinical Geneticist, Dr. Julian Barwell will talk about the importance of education, communication and joined up services and how these could help families, like the Sutton’s in the future.

Jane Sutton's blog


My son Stephen Sutton passed away on the 14 May, 2014 at age 19. 

If Stephen’s bowel cancer had been diagnosed earlier, things could have been very different for him. Stephen may have been with us that little bit longer or possibly still here today. 

Stephen had many of the ‘red flag’ symptoms of cancer: sudden and unexplained weight loss, feeling exhausted, constipation and pain that wouldn’t go away. In addition to this there was a family history of hereditary bowel cancer. Stephen’s grandmother, dad and dad’s sister all had bowel cancer at an age earlier than the norm. Stephen’s dad was diagnosed aged 31 and it was then that genetic testing revealed that Lynch syndrome was the cause.  Genetic testing was not offered for my two boys but they were to have bowel screening from the age of 25.   

On our first few visits to see the GP, which were over the course of two weeks, I didn’t go in there as a ‘panicked mom’ convinced that my son had cancer because of the family history. In fact, the GP wasn’t even aware of the family history as Stephen, up until then, had been a healthy young man and hadn’t been to the doctors.    

However, after having to return for a third time, a few days later for yet another appointment as Stephen was still in pain and unable to eat, I felt it was time for the GP to know that both Stephen’s dad and his dad’s sister had bowel cancer at a much younger age than the norm. They had been identified as having Lynch syndrome, a genetic condition whereby certain cancers are more likely to be diagnosed at a young age.   

Despite all of this evidence, Stephen’s symptoms were dismissed as definitely not being cancer- related.  Instead his illness was misdiagnosed as something much less serious - constipation. We were told there was nothing to worry about “he was far too young” for it to be cancer.   

It took another four months of emergency visits back to that ward before Stephen underwent emergency surgery. The biopsy results revealed that Stephen had stage III colon cancer. It was only from this point onwards that he began to receive the appropriate treatment for his illness.   

There’s no doubt that misdiagnosis and the five-month delay in treatment that Stephen encountered led to poorer prognosis and more intensive treatment.   

While I fully support genetic screening, the results from that screening need to be used more effectively. Education to all health professionals is key to genetic screening. Detecting and understanding inherited family disease early, to provide support to families with a coordinated approach does have the potential to improve treatment and protect relatives. However, for this to happen, the whole pathway of care from the administration side to the health professionals needs to be examined. Every step on that pathway is important.   

Agreeing to genetic testing is a huge decision for families to make. My current view is that, the results from genetic testing are not used in a coordinated manner and the subsequent care pathway is failing young people. 

Proactive attention to addressing these issues, could contribute to an earlier diagnosis and an increased chance of survival.


Dr. Julian Barwell’s blog 

Geneticist, Academic Champion and Honorary Professor in the Department of Cancer Studies at the University of Leicester 

Jane’s powerful, insightful and heartfelt testimony demonstrates how important it is for healthcare teams to be aware of familial cancer services and to coordinate services to provide the best possible opportunity to detect tumours at an early stage, particularly if these present at an unexpectedly young age or with unusual symptoms. Detecting bowel cancer at an early stage in young people can be difficult, because symptoms such as constipation are very common and tumours in this age group are extremely rare, even in Lynch Syndrome.    

I am feeling incredibly honoured to be a speaker at Teenage Cancer Trust’s ninth International Conference which is also the first Global Adolescent and Young Adult (AYA) Cancer Congress in Edinburgh this December. This is a wonderful opportunity to share experiences and good practice from around the world to inspire us to deliver the best possible care to young people at risk of and affected with cancer and their supporting families. Detecting and understanding familial disease early and providing support to families with a coordinated approach has the potential to improve treatment and protect relatives.    

The last time I spoke on this subject at my university, I covered three main areas: firstly, identifying families in primary care (triage) with an inherited risk of cancer; secondly, ethical challenges working with families when carrying out genetic testing and finally, the partnership work we are carrying out with stakeholder groups to deliver holistic care. I brought along Sarah and Donna, two young women both affected with breast cancer with unusual presentations whom shared their experiences; the now late Professor Annette Cashmore, director of the Genetics Education outreach department at the University of Leicester, whom talked about our work in schools and patient groups and finally Rob Banner, the founding member of a Prostate cancer charity, Prostaid, whom talked about patient & family support and raising awareness in the community.   

In the light of Jane’s story, this year I will tackle the question we are often asked and raised by patient groups and relatives: 'Are my future children or brothers and sisters at risk and how can we support them as they become adults? ' I will start by talking about our outreach and education programmes and then discuss the care we are offering families in our Paediatric oncogenetic clinic in Leicester where we have genetics, endocrinology, oncology, counselling and psychology input. The hope is that this type of service in the future will be able to help patients like Stephen where there is a familial inherited susceptibility to cancer, whom present with unusual symptoms through childhood and adolescence. It will draw together expertise from many disciplines to improve care, to think about symptoms in a holistic fashion and coordinate communication.    

I will then describe our approach to developing precision medicine for young people through improved diagnostics and prognostics boosted by the support of the 100,000 genome project and our stakeholder partnerships. Subsequently, I will look to the future with liquid biopsies, near patient testing and gene editing. 

Julian will be speaking more on how genetic testing can be used to better predict cancer in young people during our International Conference and Global AYA Cancer Congress taking place December 5-7 at the Assembly Rooms in Edinburgh, UK.

Register now to secure your place at the International Conference and Global AYA Cancer Congress