Study reveals gaps in cancer risk assessment and genetic tools for British Bangladeshi and Pakistani communities

Research rooted in local communities

The team analysed health and genetic information from 57,416 British Bangladeshi and Pakistani people participating in Genes & Health, one of the world’s largest community-based genetics and health research studies.

Founded and led by Queen Mary, Genes & Health began recruiting volunteers in East London in 2015 and has since expanded to other parts of the UK. By linking genetic information with NHS health records, the study aims to improve understanding of disease in British South Asian communities that have historically been overlooked by medical research.

The cohort includes people with and without health conditions, including 2,782 participants with a recorded cancer diagnosis.

Younger ages at diagnosis raise questions about screening

In the wider UK population, only around 14% of people with cancer are diagnosed by age 50. By comparison, the team found that approximately half of those with cancer in the Genes & Health cohort had been diagnosed by age 51.

This younger age at diagnosis was particularly apparent for breast, ovarian, womb, bowel, and lung and other respiratory cancers. These findings suggest that patterns of cancer presentation may differ in these communities, although further research is needed to understand the reasons and implications.

The findings raise questions about whether current NHS screening age ranges, including those for breast and bowel cancer, provide equal opportunities for early detection across all communities. Starting screening earlier could potentially benefit British Bangladeshi and Pakistani people, but further research is needed to confirm this and carefully assess the benefits and risks of any changes.

Current genetic tools may miss important risks

The researchers also investigated whether genetic factors associated with cancer risk in British Bangladeshi and Pakistani communities differed from those reported in studies conducted predominantly in people of European ancestry.

They identified 39 links between specific rare DNA changes and particular cancers. When they grouped different rare changes within the same gene, they found that 25 genes were linked to one or more cancer types.

More than 60% of the genes highlighted through these analyses had not previously been documented as connected with cancer in any of the four major databases of known associations they examined, highlighting how studies in underrepresented populations can reveal previously overlooked and potentially important biology.

The team also found that current gene panels used to assess a person’s inherited risk of cancer had limited ability to distinguish between people with and without cancer in the Genes & Health cohort. This suggests that genetic-risk tools developed predominantly using evidence from people of European ancestry may perform less effectively in British Bangladeshi and Pakistani communities.

Continuing the search for more equitable cancer care

The researchers note that British Bangladeshi and Pakistani people remain underrepresented in many national research cohorts. For some individual cancer types, fewer than ten people from these communities were available for comparison, making it difficult to confirm the genetic findings independently.

This underlines the need both to improve representation in research cohorts and to understand the barriers that may prevent people from taking part.

The team is now extending this work through the Barts Health Data Platform and Precision Medicine Programme, analysing healthcare records from around 100,000 people who have attended breast assessment clinics at Barts Health since 2012. The study will investigate patterns of diagnosis and follow-up across different ethnic groups, providing a more detailed understanding of cancer pathways in East London.

Importantly, the work will distinguish between Bangladeshi, Pakistani and Indian communities rather than treating South Asian people as a single group. This could provide a clearer picture of how people move through breast assessment and diagnosis and whether experiences differ across East London’s diverse population.

The new study combines BCI’s expertise in cancer genomics, bioinformatics and population health research with the community relationships and linked NHS data developed through Genes & Health. By combining community engagement, genomic research and NHS data, this locally rooted research reflects Queen Mary’s priority of tackling health inequalities and ensuring that future advances in cancer prevention, diagnosis and precision medicine are built on evidence that reflects the full diversity of the population.

The research was funded by Barts Charity and the National Institute for Health and Care Research Barts Biomedical Research Centre.

Genes & Health is core-funded by Wellcome, the Medical Research Council, the Higher Education Funding Council for England Catalyst Fund, Barts Charity and Health Data Research UK, with research delivery support from the NIHR Clinical Research Network.