Statement in response to the Government announcement on DNA testing and research

Responding to the Government announcement on DNA testing and research, Dr Veline L’Esperance, Senior Clinical Advisor to the Observatory, said:

“We welcome today’s announcement which supports our work in advancing genetic testing and diagnosis. It is vital that we work together to ensure under-represented, diverse communities are captured in DNA testing and research to reduce existing and future health inequalities.

“Genomic medicine has the potential to transform outcomes for patients, but only if access is fair. By bringing testing closer to home, we can help remove barriers for communities who have traditionally been underrepresented in research and disproportionately affected by health inequalities. However, in order for genomic medicine to achieve its full potential, it is vital that any opportunities for testing and research reach everyone, not just a few.

“Training nurses as genomics champions in local communities is welcome, this will help to break down barriers to access, tackle health inequalities, and ensure that people from all backgrounds can benefit from earlier diagnosis and life-saving treatment. Our work at the NHS Race and Health Observatory has already identified the clear inequalities in access to the genomic medicine service and has outlined solutions to these challenges.

“Our 2024 study: ‘Ethnic inequities in genomics and precision medicine review’, found ethnic minority groups largely absent from participating in studies, leading to poor health outcomes for diverse groups across a range of health conditions. We must therefore go further, ensuring that people from all backgrounds are represented in research, empowered to take up testing, and supported to access earlier diagnosis and life-saving treatment. Only then will genomics truly deliver on its promise to transform lives.

“Whilst advances in precision medicine continue at pace, there is a fundamental risk that these strides could result in disadvantaging those communities who already experience ethnic health inequalities.  The Observatory is working to ensure that future research is improved and conducted in diverse populations and the resulting outputs from research are available for all.

“Last year, the Observatory, in partnership with NHS England, announced an 18-month research project award to investigate the disparities faced by ethnic minority patient groups across access to, and delivery of, the NHS Genomic Medicine Service (GMS). The independent health body is also working with the National Institute for Health and Care Research (NIHR) in identifying solutions in improving ethnic representation in research across the UK. The group is examining historic barriers to engagement and setting out new, innovative approaches for inclusive research design, delivery and funding criteria.

“Despite some advances in clinical practice and research, a substantial gap remains in the understanding of familial hypercholesterolemia among Black, Asian and minority ethnic individuals. Across the UK, the condition can affect up to one in 250 people but, more widely, there could be up to 220,000 affected individuals in Britain. Without treatment, it can cause early heart attacks along with a higher risk of heart disease.”

Academic general practitioner, Dr Veline L’Esperance, is the Senior Clinical Advisor to the Observatory specialising in ethnic and racial inequalities relating to genomics and precision medicine. Current projects include leading a review addressing genetic testing and diagnosis of familial hypercholesterolemia in patients from Black, Asian and ethnic minority communities. Familial hypercholesterolemia is an inherited condition that is passed down through families and is caused by one or more faulty genes, resulting in exceptionally high levels of cholesterol in their blood.

Other projects include overseeing the commission of a rapid evidence review of ethnic inequalities in precision medicine – with recommendations for policy and advising on a project that examines racial bias in genetic testing to prevent severe bone marrow depression from anti-cancer drugs.