A new algorithm that identifies tumours sensitive to particular immunotherapies could improve the personalisation of cancer therapies.

The MMRDetect clinical algorithm makes it possible to identify tumours that have ‘mismatch repair deficiencies’ and then target treatment to exploit those weaknesses.

It was trained on data from thousands of NHS cancer patient samples sequenced through national whole genome sequencing endeavour, the 100,000 Genomes Project. 

The study, led by researchers from the University of Cambridge’s Department of Medical Genetics and MRC Cancer Unit and published today in the journal Nature Cancer, identified nine DNA repair genes that are critical guardians of the human genome.

It suggests that signatures of repair pathway defects are ongoing and could therefore serve as crucial biomarkers in precision medicine. 

To be most effective, the algorithm could be used as soon as a patient’s cancer diagnosis is received and their tumour characterised by genome sequencing. 

It is now planned to roll the algorithm out across all cancers picked up by Genomics England.

The study was funded by Cancer Research UK (CRUK), Wellcome, Medical Research Council, Dr Josef Steiner Foundation and supported by the Cambridge NIHR Biomedical Research Campus.

WHY IT MATTERS

Researchers believe this tool could help transform the way a wide range of cancers are treated and save many lives.

THE LARGER CONTEXT 

UK health secretary Matt Hancock launched the Genome UK national strategy last year which plans to harness genomics to offer patients personalised treatments, predict the risk of chronic diseases for vulnerable groups and enable earlier interventions.

The UK is also offering its genomics expertise to other countries in order to help them identify new variants of COVID-19, through the launch of the New Variant Assessment Platform.

Recently UK biotech firm Genomics plc announced it is working with the NHS on a pilot study using genetic information to predict patients’ risk of heart disease within the next 10 years.

ON THE RECORD

Senior author, Dr Serena Nik-Zainal, a Cancer Research UK advanced clinician scientist at Cambridge University’s MRC cancer unit, said: “When we knock out different DNA repair genes, we find a kind of fingerprint of that gene or pathway being erased. We can then use those fingerprints to figure out which repair pathways have stopped working in each person’s tumour, and what treatments should be used specifically to treat their cancer.”

Parker Moss, chief commercial and partnerships officer at Genomics England, said: “We are very excited to see such impactful research being supported by the 100,000 Genomes Project, and that our data has helped to develop a clinically significant tool.”

Michelle Mitchell, chief executive of Cancer Research UK, said: “Our ability to map and mine useful information from the genomes of tumours has improved massively over the past decade. Thanks to initiatives like the 100,000 Genomes Project, we are beginning to see how we might use this information to benefit patients.”