Lynch for Tristan's ESMI's pick

Laboratory tests on tumour tissue make it cost-effective to identify Lynch Syndrome

ESMI's pick for October 2015

This month the honour goes to Tristan Snowsill for his publication "A model-based assessment of the cost–utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients" in BMC Cancer. 

We asked Tristan to give us some background and context to his paper:

"This was my first major project as a part of ESMI and it involved very close working with colleagues in ESMI (Nicola Huxley, Martin Hoyle, Tracey Jones-Hughes, Helen Coelho, Chris Cooper and Chris Hyde) as well as with experts in the field, including Dr Ian Frayling, with whom we keep close links. 

Many people will have heard of the BRCA gene mutations which lead to an increased risk of breast and ovarian cancer (particularly after Angelina Jolie revealed she was a carrier), but Lynch syndrome is much less well known although it plays a similar role to BRCA in bowel cancer and womb and ovarian cancers. There are likely to be over 150,000 people with Lynch syndrome in the United Kingdom, but the vast majority do not know they have it. If a person has Lynch syndrome there is a 50:50 chance they will pass it on to each of their children. It dramatically increases the risk of a number of cancers and leads people to develop cancer at an earlier age than average. 

We were commissioned by the NIHR Health Technology Assessment programme to investigate whether it would be effective and cost-effective to screen people developing bowel cancer at an early age (under 50 years) for Lynch syndrome. If Lynch syndrome is identified in a person their family can also be tested for the particular mutation. If people have Lynch syndrome (or are at risk but untested) then surveillance can be used to try to identify and remove pre-cancerous growths, as well as to catch cancer early. This surveillance has been shown to be effective for bowel cancer.

We reviewed the literature and constructed an economic model and found that it would be cost-effective to do this screening, potentially also up to age 70. We published our work in a monograph in the Health Technology Assessment journal (open access), but we also wanted to reach a wider audience by writing a short article for a journal, and to include further results about the predicted impact of screening on colonoscopy services. This was published in BMC Cancer (also open access) and we were delighted to be subsequently informed that our journal article was highly accessed.

Our interest in Lynch syndrome continues, and we are seeking funding to continue working in this area".

Congratulations to Tristan and colleagues in ESMI on your important findings for screening for Lynch syndrome, and your subsequent successful publication.


Browse the other ESMI's picks