New report reveals solutions to stark exclusion of ethnic minority communities in genetic research

Black, Asian and ethnic minority communities are poorly represented in genetic medicine research and artificial intelligence-based risk prediction tools used to calculate the chance of developing future disease.

In the first report of its kind, the NHS Race and Health Observatory and the University of Nottingham have today published findings which reveal the lack of trust and targeted engagement by health commissioners, regulators and researchers.

Ethnic minority groups are largely absent from participating in studies, as outlined in findings from the 2024 study:Ethnic inequities in genomics and precision medicine review report’, leading to poor health outcomes for diverse groups across a range of health conditions.

The review involved an examination of 70 policy and guidance documents, spanning the period between 2017 and 2022 – of these, only 50 included broad and limited ethnicity information linked to precision medicine and/or genomics.  Genetic research is used to analyse, prevent and predict illness and disease.  However, the researchers conclude there is poor ethnic representation in datasets and as a result, this limits analysis of how well genetic testing and personalised medicine is working across different ethnic groups.

Well-documented historical abuses of Black and ethnic minority people by medical institutions have contributed to a loss in trust in research and clinical trial participation and in interventions such as vaccine uptake. Focus groups conducted by the University of Nottingham found potential volunteers less likely to participate due to worries that their genetic samples may be misused.

Some generally shunned participating in research due to historic research violations against ethnic minorities, others failed to understand how or why their participation in genetic research could benefit their families, communities and others.

Key findings, recommendations and the barriers, including those around language, training, translation and cultural and religious sensitivity, will be discussed at the online report launch on Wednesday 5 June, chaired by the Observatory’s Senior Clinical Advisor, Dr Veline L’Esperance.

Professor Habib Naqvi, chief executive, NHS Race and health Observatory, said:

“Genomics and precision medicine are currently at the cutting edge of medical technology and promise a world in which treatments can be more targeted and effective. There is a risk, however, that these advances could leave behind those communities who already experience stark health inequalities. We know ethnic minority groups are under-represented in medical research and in genomic biobanks. The recommendations put forward in this comprehensive report will help ensure that genomic medicine works for everyone.”

NHS Race and Health Observatory Board member and Chair of the NHS Confederation, Lord Victor Adebowale, will also join panellists at the report launch along with chief executive, Professor Habib Naqvi and Sadia Haqnawaz, an expert by experience, who lost her baby daughter in 2010 to genetic disorder, Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Clinical Professor, Dr Nadeem Qureshi, School of Medicine at the University of Nottingham, said:

“Advances in genomic and precision medicine are encouraging and tailored approaches are being increasingly embedded within healthcare. However, our research shows that ethnic inequities exist within the field, which will further exacerbate health disparities, if these are not urgently addressed by research and policy.  We found  an ethnic bias in genetic datasets, with widespread under-representation of ethnic minority groups.

“Key to improving access to genomic medicine services is accurate monitoring of the ethnicity of those accessing the services, together with monitoring outcomes of care between different ethnic groups. Achieving this will also be dependent on the right infrastructure being in place and effective collaboration between relevant stakeholders, including tailored public engagement activities appropriate to specific ethnic communities.”

A patient advocate, and child of parents who are first cousins, Sadia Haqnawaz now works supporting and raising awareness of the risks involved with inter marriage, cultural practices, sharing her lived experience and supporting Pakistani women. Now a mum of four boys, between the ages of two and 19, she has also grieved the loss of nieces and nephews to ARPKD.

Sadia said: “For me, It is vital that parents whose babies receive poor diagnoses due to genetic anomalies resulting from consanguineous marriages understand the risk factors involved.  Potential, tragic consequences can be avoided if more parents are aware about genetic testing and public health information is available, translatable and accessible to communities.  Despite the stigma, cultural, and religious taboos, this is a subject that needs to be addressed and countered against a lot of misinformation around what genetic testing entails from genetic modifications and micro – chipping. Often there is more faith in God than genetic testing and science.”

Key report recommendations include:

 

  1. Government, relevant health authorities and research bodies should ensure diverse groups of patients and community groups are aware and involved in discussions about NHS genetic medicine services.

 

  1. Understand the local population. Acknowledge the impact of past medical trials and act on the on barriers limiting current research participation among Black, Asian and ethnic minority communities. Form diverse and meaningful partnerships, including with voluntary and charitable groups.

 

  1. Maintain consistent and comprehensive monitoring of patient access to NHS genetic medicine services. Take targeted action to support equity of access to services, including adequate provision of interpreters to translate understanding of complex medical language.

 

  1. Regular monitoring, evaluation and publication of projects by NHS England’s Genomics Policy Unit which aim to address inequities in genetic medicine services and testing uptake must be routinely published and publicly accessible.

 

  1. This should be shared across the NHS Genomics Medicine Services. Public authorities working in genomics, such as NHS England’s Genomics Unit and Genetic Medicine Service Alliances, must hold key stakeholders to account through regular monitoring and evaluation of action and implementation plans.

 

  1. Governments, research bodies and funders should ensure research databases hold genetic information that is representative of our diverse population, with appropriate coding and recording of ethnicities. Work to increase representation of those that take part in research in genetic and precision medicine should be prioritised.

 

  1. Government and healthcare organisations should routinely review work underway to increase the diversity of healthcare workers involved in genetic services, leadership positions and research delivery. Insights should be used to develop improved genetic medicine education for healthcare professionals, incorporating cultural awareness training relevant to diverse communities.

Better public health education is essential. Understanding the barriers to improving genetic literacy and genetic testing will help ensure equitable access to the rapidly evolving field of precision medicine, according to Senior Clinical Advisor, NHS Race and Health Observatory, Dr Veline L’Esperance.

“Without fully understanding our genetic variation, the option of developing potential life-saving precision medicine services that can help cure illness, prevent health conditions and disease, remain curtailed for our diverse communities.  We must ensure all national research databases which hold genetic information are inclusive with appropriate coding and have a broad range of ethnicities recorded.”

The Observatory is currently undertaking an Invitation to Tender in collaboration with NHS England on work that will examine ethnic health inequalities that exist within the Genomic Medicine Service.