A major report on the NHS in England has warned that ethnic health inequalities could grow as a result of advances genomics and precision medicine unless disparities are addressed.
The Ethnic Inequities in Genomics and Precision Medicine report by the NHS Race and Health Observatory and the University of Nottingham paints a bleak picture of who could lose out from these cutting-edge advancements in medical technology.
But it adds that embedding genomics medicine within the NHS represents an opportunity to instigate meaningful change and puts forward recommendations on how issues can be addressed.
A review of dozens of policy and guidance documents within the report highlights how ethnic minority groups are underrepresented in medical research and genomic biobanks.
“Genome-wide association studies, like the ones we picked up in the review, eventually lead to clinical genetic tests that are used in the NHS. But, if they are not representative of the diverse U.K. population, they can be harmful,” explained NHS Race & Health Observatory CEO Habib Naqvi, PhD, at the report’s launch.
He gave the example of a British Pakistani patient of his who had a pharmacogenetic test for a neurological treatment that, if negative, should not be used as it caused blindness.
“Her test was negative so they started the treatment—within three days she went blind. I ask myself, did previous genomic studies consider ethnic variation before it went into clinical practice? I really suspect it didn’t.”
He added: “Many minorities struggle with undiagnosed conditions, particularly in children. Participation in genomic studies would help get these families through this diagnostic odyssey.”
The report’s review of 70 policy and guidance documents between 2017 and 2022 found that just 50 included broad or limited ethnicity information linked with precision medicine or genomics.
The report also included an academic systematic review of 143 studies to identify ethnic inequalities in precision medicine, which focused on recruitment biases in biomedical research and genomic medicine and patient access to precision medicine.
It found that genomic analysis of minority groups appeared rudimentary, and the findings were rarely interpreted in the results and discussion sections of research.
Although ethnic minority groups were incorporated into analyses, it was usually simply as a covariate in multivariate analysis rather than trying to identify clinically meaningful differences between ethnic minority groups and White, European participants.
Researchers also conducted qualitative research among stakeholders to identify barriers and facilitators for access to genetic medicine services.
The findings showed that knowledge and awareness about the links between genes and health varied, with barriers to access including language and distrust of healthcare professionals, health systems and research.
Community engagement was raised by all stakeholders as key to improving equity of access and participation in research and the report focuses on this as a key area for improvement.
“There are all these services that are being implemented and embedded within healthcare but different populations, different ethnic minority groups aren’t being considered in the planning and implementation of these services,” said University of Nottingham researcher Manpreet Bains, PhD, at the report’s launch.
“It is almost like an afterthought, when we realize that actually these services aren’t reaching or being accessed by these groups in the first instance.”
She maintained the issues raised in the report were not just a national problem, but a global issue.
