Oesophageal biobank opens doors for patient-focused research
You probably don’t think much about your oesophagus, the food pipe that connects your mouth and your stomach, until something goes wrong with it. Around 500 people a year are diagnosed in Ireland with oesophageal cancer, which is the sixth-leading cause of cancer mortality worldwide. What if there was a way to identify people at risk of developing this hard-to-treat condition and to intervene early?
That is a driving goal for Professor Jacintha O’Sullivan, Professor in Translational Oncology at Trinity College Dublin, and Precision Oncology Ireland and the Oesophageal Cancer Fund (OCF) are making it happen.“I think of impact in terms of doors being opened,” explains Professor O’Sullivan, who is a Principal Investigator in Precision Oncology Ireland. “Precision Oncology Ireland is opening doors by enabling us to build networks, registries and biobanks. This means we can now include tens of thousands of people in our studies on oesophageal cancer, which in turn means we are invited to join even larger international networks of research.”
Long-standing collaboration
Professor O’Sullivan has a long-standing collaboration with the OCF – around 15 years ago they joined forces to start building a registry to collect clinical information from consenting people living with Barrett’s Oesophagus, an inflammatory condition that damages the oesophagus and can, in some cases, lead to cancer.
“While it is estimated that less than 5 per cent of Barrett’s patients go on to develop oesophageal cancer, more than 40 per cent of diseased oesophaguses show traces of Barrett’s,” says Professor O’Sullivan. “So we know there is a very real link, and that many people are walking around with Barrett’s and are unaware of it.”
People with Barrett’s Oesophagus often experience acid reflux or heartburn, and sometimes have difficulty swallowing. Once diagnosed, they typically undergo a monitoring procedure every couple of years where a doctor looks at the inside of their oesophagus with a camera on a scope, and takes a small piece of tissue for analysis.
“All of these people are coming in for surveillance, and as researchers we could see that if we could analyse their blood and tissue, we could get a better understanding of the biology of the condition, and how it progresses to cancer in some people,” says Professor O’Sullivan. “Precision Oncology Ireland enabled us to set up a biobank, where people consent to have their tissue and blood samples stored and used for research.”
Building success with patients
The response from people with Barrett’s Oesophagus and oesophageal cancer has been overwhelming, with almost all consenting to be included in the biobank, and their participation has supercharged the research efforts, according to Professor O’Sullivan.
“The biobank has enabled our group to secure national and international funding for research projects – without the patient samples and data, the research would not be possible,” she says.
The success of the infrastructure has begotten more success, driving ever stronger collaborations to research many different aspects of the cancer, including the newly established All-Ireland Oesophageal Cancer Network, which Professor O’Sullivan co-leads.
“This combines registries in the north and south of Ireland and makes them even more powerful, with a total of around 33,000 people now included,” she says. “It makes the studies more powerful, and it means we can analyse aspects such as comparisons of Barrett’s and oesophageal cancer in different jurisdictions.”
Dividends for patients
For Carmel Doyle, CEO of the Oesophageal Cancer Fund, the registry and biobank are now beginning to pay real dividends from OCF’s pioneering investment of more than €2.3 million since 2009, and she salutes the foresight of OCF founder Noelle Ryan and Professor John Reynolds and Professor O’Sullivan for their perseverance and skill in making it happen. “The bottom line is that this is already leading to earlier detection, which increases survival rates for these patients,” says Doyle. “Now with the strength and network of Precision Oncology Ireland behind us, this registry is a game-changer for this difficult cancer.”
Doyle does not need to be convinced of the link between Barrett’s and oesophageal cancer. “I saw first-hand how my husband’s cancer was picked up very early through regular scopes for his Barrett’s Oesophagus,” she says. “Early detection saved his life and I am so proud to be part of OCF and the Precision Oncology Ireland community, which can maximise the impact of this registry and biobank.”
The growing infrastructure has also opened the door into Europe, notes Professor O’Sullivan.
“The registry and biobank meant we were invited to join a consortium called ENDEAVOR that links seven countries in the EU, where we are looking to develop ways to identify people with Barrett’s Oesophagus who are at high risk of developing cancer and select the best treatments and surveillance approaches for those individuals,” she says.
With and for patients
People who live with Barrett’s and oesophageal cancer themselves are also shaping the questions that the registry and biobank can now help to explore, notes Professor O’Sullivan.
“As scientists we get very excited about the molecules we see in blood and tissue samples, but we need the patients to tell us about the day-to-day issues that are important for them, and they are very involved in the research questions,” she says. “One of the big aspects they have identified is the mental stress of coming in for surveillance, the worries that people have in the run up to having the tests done. Because of that, the All-Ireland Oesophageal Cancer Network is now working with people around the country who go through this experience, and they are shaping the surveys we will use to assess and support people on this journey.”
Ultimately, Professor O’Sullivan hopes that the research will mean fewer people will need to experience that stress.
“We want to be able to identify when people come in for monitoring whether they are at increased risk of developing cancer, and if they are not, then that would mean those individuals would not need as much monitoring. Or if they are, then they can benefit from early interventions, to ensure the best outcome for them”, she says.
“Now that the biobank and registry has collected meaningful samples and information, we are in a strong position to try and stratify which Barrett's patients may be at a greater risk of disease progression, and hence their treatment plan can be tailored.”