Greater diversity is needed in genetic research to make genomics’ use in cancer care and screening more accurate and reliable for all, according to a new study.
The research, led by Genomics England and published in The Lancet Oncology, analysed the data of over 14,000 participants with cancer from the 100,000 Genomes Project to examine how ancestry affects identifying genetic changes that may be linked to cancer. It showed that fewer actionable genetic changes – those that can be targeted for treatment – were identified in those from non-European backgrounds. Whole genome sequencing was not able to find treatment-relevant findings for 26% of participants of South Asian ancestry compared with 16% of European ancestry.
One possible explanation for this put forward by the research team is that limited genetic research involving diverse populations means genetic changes commonly found in non-Europeans are less studied. This makes it more difficult to separate truly harmful gene changes from the harmless ones.
Some gene changes running in families can increase the risk of getting cancer, such as the BRCA1 gene. Identifying people who are more susceptible to developing certain types of cancer makes it easier to prevent or diagnose the condition earlier, which is vital to improving patient outcomes. The study tested the capabilities of the genomics pipelines used in England to find those changes for people of different ancestries. While the pipelines demonstrated a strong ability to do this, people of non-European ancestry background had more of these changes flagged – although some were unlikely to be linked to cancer as they were common genetic changes among these groups.
The study is the first to examine the role of ancestry within genetic screening and targeted treatment within a national cancer sequencing programme.