Almost 60% of participants signed up to the 100,000 genomes project through the West Midlands Genomic Medicine Service Alliance, whose genome sequencing results were discussed by a specialist genomic multidisciplinary team had clinical recommendation made.

Four in ten (40.4%) of participants had a potential treatment recommendation, for example a licensed or unlicensed drug or clinical trial although few of these treatment recommendations led to changes in the patient’s cancer care.

A paper published in The British Journal of Cancer led by Professor Andrew Beggs and his team of researchers at the University of Birmingham, in collaboration with The West Midlands Regional Genomics Laboratory, Central and South Genomic Medicine Service Alliance and The Wessex NHS Genomics Medicine Centre, has evaluated the regional implementation of the 100,000 Genomes Project for cancer patients.

Professor Andrew Beggs from the University of Birmingham who led the study said:

“The results of this study on whole genome sequencing on cancer patients in our region are particularly interesting because our local population is very diverse with many minority ethnic groups represented and a wide range of participants with extremes of socioeconomic status.”

“It is hoped that whole genome sequencing may provide therapeutic avenues for patients with currently very limited therapeutic options. It is also possible that with longer follow-up more of the participants may access stratified medicine options based on the whole genome sequencing data, particularly at times of disease relapse or recurrence.”

Landmark initiative

The 100,000 Genomes Project was a landmark initiative in the United Kingdom, evaluating the feasibility and benefits of whole genome sequencing in cancers and rare disease.

The study found that different types of cancer were associated with different rates of recommended actions. For example 53.7% of lung cancer participants had potential treatment or trial recommendations versus only 13.3% of blood cancer participants. Furthermore, participants with breast and paediatric cancers were more likely to be referred to clinical genetic services.

Throughout the period of study an improvement in recruitment, sample quality and also speed of sequencing turnaround was seen, from 16 weeks to complete a sequence to just 4 weeks by the end of the study. This suggests that the project has helped to build infrastructure and experience, which facilitates more efficient delivery of whole genome sequencing.

Dr Helen Robbins from the University of Birmingham and a co-author of the study said:

“This study reviewed the clinical utility of whole genome sequencing for cancer patients. The 100,000 Genomes Project adopted an unselected approach to sequencing, and did not exclude patients based on stage, grade or prognosis.

“The benefit of this strategy is that it better contributes to the biological understanding of malignancy, the downside being that a significant portion of patients who have their genomes sequenced were unable to have any change to their cancer management.”