New approaches to cancer diagnostics, from bench to primary care

Programme stream(s): Early detection / diagnosis and prognosis
Programme session type(s): Specialist session

Chair: Fiona Walter, University of Cambridge, UK
Speaker: Jon Emery, University of Melbourne, Australia
Speaker: Richard Neal, University of Leeds, UK
Speaker: Steve Pereira, University College London, UK


Room: Alsh

1.Fiona Walter: Introduction
2.Steve Pereira: ‘Early pancreatic cancer diagnostics’
3.Jon Emery: ‘Applying genomics to tailor colorectal cancer screening in primary care’
4.Richard Neal: ‘New approaches to diagnosing lung cancer – from bench to primary care’
5.Panel discussion

Testing for cancer has largely been the province of specialist care, and services are under considerable strain. As most UK patients initially present in primary care, it is logical to make this the setting for most testing activity, although the feasibility, acceptability, safety and cost-effectiveness of many existing and innovative tests and diagnostic approaches need to be proven. The speakers will discuss recent advances in the development, evaluation and delivery of investigations within a community setting to provide a more timely provisional diagnosis (or exclusion of) cancer. Participants will gain an understanding of new approaches to cancer diagnostics and their evaluation for use in a community setting.

Early pancreatic cancer diagnostics
Speaker: Stephen Pereira
Affiliation: University College London


Earlier diagnosis is critical to improving survival in pancreatic ductal adenocarcinoma by making intervention strategies successful. However, positive identification of early tumours is made more challenging by pre-malignant conditions from which cancers arise, but where the transformation rate is low, and many biomarker studies utilising retrospective cohorts in late-stage disease. Biomarker panels which identify early cancers and stratify precursor lesions that need treatment from those that do not would be expected to extend life and reduce unnecessary interventions. In recent years, a variety of novel biomarkers from body fluids, including blood, urine, saliva, breath, pancreatic juice and stool, have been reported. With advances in high throughput techniques and “omics” analyses, various circulating biomarkers, such as circulating tumour cells, metabolites, cell-free DNA, noncoding RNA, and exosomes, have been widely studied and show promising diagnostic value. Collaborative large-scale studies are required to test the clinical validity and applicability of potential biomarkers in ‘at-risk’ populations in primary and secondary care.

Applying genomics to tailor colorectal cancer screening in primary care
Speaker: Jon Emery
Affiliation: Centre for Cancer Research and Department of General Practice, University of Melbourne


In the era of precision medicine it is increasingly recognised that a more tailored approach could be applied to cancer screening and early detection. In primary care, the assessment of cancer risk to determine who is most likely to benefit from invasive, expensive diagnostic tests can be applied both to symptomatic and asymptomatic populations.  There is large variation in individual lifetime risk of colorectal cancer due to differences in external factors (lifestyle and environment) and genetic susceptibility. Recent genome wide association studies have begun to identify multiple common single nucleotide polymorphisms (SNPs) which increase risk of colorectal cancer and could be used to stratify colorectal cancer screening. In this presentation I will present data on a 45 SNP panel for colorectal cancer risk prediction. This will include modelling its potential impact on colorectal cancer screening programs and recent implementation research to study issues of feasibility, acceptability and impact on patient and clinician decision-making in primary care. I will compare this approach with alternative methods of risk assessment based on electronic risk assessment tools currently being evaluated in the CRISP Trial.

New approaches in the diagnosis of lung cancer - from bench to primary care
Speaker: Richard Neal
Affiliation: University of Leeds


Selection of patients for ongoing assessment, investigation and referral (or not) from primary care, for suspected lung cancer, has to date been predicated upon as assessment of underlying risk of undiagnosed cancer as determined by presentation of particular symptoms, usually to a GP.

A lot is known about the epidemiology of lung cancer symptoms, and their presentation, and the risk of individual and multiple symptoms. There is more to understand though, for example how AI approaches my able to combine data about symptoms and changing symptoms with other data in health records (including for example test results, weight, medication and attendance patterns) to estimate cancer risk more accurately. More work is also needed to ensure that an understanding of symptom-based risk is fully implemented in practice (i.e. implementation of current NICE guidelines in England and Wales). However, there is a limit to how much symptoms can actually help in cancer diagnosis.

Diagnosing lung cancer is also complicated by the fact that chest-x-ray, the standard first-line investigation, has a relatively low specificity, meaning that up to about 20% of patients who are subsequently diagnosed with lung cancer will have had a normal chest x-ray reported in the preceding months. Normal x-rays reassures doctors and patients and are likely to delay the diagnosis.

This presentation will make the case that GPs need help in identifying those people at risk of having undiagnosed lung cancer, and equally importantly, those who are not at risk, and present some of the possibilities for the use of new technologies that may help GPs. These technologies will include: biomarkers and machine learning developed algorithms based upon multiple biomarkers (using for example, residual testing of samples), and VOCs; and determining the place and value of imaging modalities.

The presentation will build upon the work of the NIHR In-Vitro Diagnostics Cooperative in Leeds, the development of a primary care ‘testbed’ for such technologies, and the Yorkshire Lung Screening Trial that allows a platform for biomarker collection for patients at higher risk of lung cancer who are undergoing screening in community settings.