Diverse Data
The initiative aims to reduce health inequalities and improve patient outcomes in genomic medicine for minoritised communities.
Genomics in Sickle Cell Research Initiative
There is a need for more research in sickle cell
Historically, research in sickle cell has not been prioritised. Because of this, there aren’t many treatment options for people living with the condition.
There is also limited understanding of how and why sickle cell affects people so differently, making complications difficult to predict and treatments hard to develop.
Our vision is to champion and lead patient-centred, genomics-driven research aimed at improving understanding, treatment and ultimately outcomes for individuals affected by sickle cell.
About sickle cell
Sickle cell is a genetic red blood cell condition, also known as a hemoglobinopathy, present at birth (and is one of the conditions included in the Generation Study).
It is characterised by red blood cells, that are shaped like a sickle or a banana. The sickle cell gene is inherited and passes down from parents to children. People who have sickle cell trait, which means they have one copy of the sickle cell gene, who have children with someone who also has sickle cell trait, will have a 25% chance of their child having sickle cell. That is why people who have sickle cell in their families are encouraged to take a blood test to check, especially if wanting to have children.
Around 17,000 people are affected in the UK and although it can affect anyone, sickle cell is particularly common in those of African and Caribbean genetic ancestry. Visit the NHS sickle cell webpage for more information.
How sickle cell can affect people can be vastly different. Visit the Sickle Cell Society website for more information on the management of sickle cell.
How sickle cell can affect someone
Sickle cell affects people differently and this is at the heart of what this initiative is looking to understand. For example, sickle cell can cause significant episodes of pain known as ‘sickle cell crises’ due to the sickle red blood cells blocking blood vessels. People with sickle cell are often forced to go to A&E when experiencing a crisis to get urgent medical care and have a higher risk of chronic anaemia and strokes. They can also experience damage to vital organs such as the lungs, liver, kidney, heart, reproductive organs and spleen that can result in a range of serious complications. Sadly, many sickle cell patients often face stigma and the condition is still largely misunderstood.
Genomic research could provide targeted answers
We aim to build a world-class research dataset backed by genomics to improve and increase future research opportunities in sickle cell.
By using genomics to understand why sickle cell presents differently, we hope to enhance innovative and collaborative research so we can better understand the condition and encourage the development of new and better treatments for patients.
To do this, we are working with partners to engage people impacted by sickle cell, create a set of future research priorities and encourage innovative research.
We aim to:
Build a world-leading sickle cell genomics research resource
Set an agenda for genomic sickle cell research, led by patients
Raise awareness of genomics research for sickle cell
Through this work we hope to:
Enable genomics research: Create a resource for discovery to deepen our understanding of genetic factors in sickle cell, including new therapies and broad-ranging experiences of the condition.
Create a tailored research space: Provide an opportunity for the sickle cell community to define and participate in addressing unmet needs in research and supporting future generations of patients.
Galvanise a research community of experts: Foster collaboration among patients, clinicians, and researchers, forming a connected and dedicated community to advance genomics research for sickle cell.
Showcase practical applications today for genomics: To improve health, accelerate access to treatments and develop curative therapies.
Who we're working with
NIHR BioResource’s Improving Black Health Outcomes Study
We are working with NIHR BioResource who have launched a new study called Improving Black Health Outcomes (IBHO). Genomics England are supporting a focused arm of IBHO on sickle cell. By partnering with the NIHR BioResource and the IBHO study, we benefit from working with existing and established recruitment infrastructure and networks, and well as enhancing an exciting new study dedicated to improving health research for the UK Black community.
Expert Advisory Board members
Julie Makani
Chair of the Advisory Board
Fellow, Tanzania Academy of Sciences
Principal Investigator, Sickle Cell Programme, MUHAS, Dar-es-Salaam, Tanzania
Principal Investigator, SickleInAfrica Clinical Coordinating Center (CCC) SickleInAfrica
Provost Visiting Professor, Imperial College London, UK
Zainab Garba-Sani
Deputy Chair of the Advisory Board
Senior Harkness Fellow in Health Policy and Practice, The Commonwealth Fund (Stanford University)
Sickle Cell Patient Advisory Group Chair, NHS England
Trustee, Sickle Cell Society UK
Vinice Thomas
Director of Nursing and Quality Professional and System Leadership, NHS England London
Chief Nursing Officer’s Black and Minority Ethnic Strategic Advisory Group. NHS England -London Region
Bernadette Hylton
Lead Haemoglobinopathy Clinical Nurse Specialist, UCLH
HCC Education Matron, The Red Cell Network
John James
Chief Executive, Sickle Cell Society
Eugene Oteng-Ntim
Clinical Director for Women’s Health Services
Consultant Obstetrician, Guy's and St Thomas' NHS Foundation Trust
Professor of Obstetrics, King’s College London
Ambroise Wonkam
Professor of Genetic Medicine
Director, McKusick-Nathans Institute & Department of Genetic Medicine
John Brewin
Consultant Paediatric Haematologist at Kings College Hospital NHS Foundation Trust
Honorary Senior Clinical Lecturer at Kings College London
Willem Ouwehand
Emeritus Professor of Experimental Haematology, University of Cambridge
Honorary Consultant of Haematology, Cambridge University Hospitals
University College London Hospitals and NHS Blood and Transplant
Sonia Wolf
Consultant Haematologist (Haemoglobinopathy and Transfusion Medicine), NHSBT/Barts Health NHS Trust
Mark Layton
Professor, Centre for Haematology, Imperial College London,
Consultant Haematologist, Imperial College Healthcare NHS Trust
Chair West London Haemoglobinopathy Coordinating Centre
Natasha Gordon-Douglas
Sickle Cell Patient Advocate
John Bradley
Consultant Physician Cambridge University Hospitals
Director of Research Cambridge University Health Partners
Director of Studies in Medicine Trinity Hall
Hazel Attua
Haemoglobinopathy Coordinating Centre (HCC) NEL Patient Representative
Samuel Chuku
Sickle Cell Patient Advocate
Joe Sharif
Consultant Haematologist, Manchester University NHS Foundation Trust
It’s fantastic that, with advances in science, we have begun to see an acceleration in the use of genomic medicine and its benefits to patients worldwide. However, while this evokes a promising era of genomic medicine, the danger is that the benefits are being lost in translation for diverse populations. Although we share a large amount of similarities in DNA across populations, there are also millions of different locations within the genome where variation can occur, and the smallest difference here can have enormous implications.
Globally, we already face significant disparities in healthcare, which are avoidable. It’s exciting to see programmes such as Genomics England’s Diverse Data initiative lead the way for how we can bridge the divide by addressing the historic under-representation of data from minority ethnic groups. It’s imperative that we work together to accelerate a future where everyone, regardless of their background, can receive equitable access, excellent experience and optimal outcomes.
Professor Bola Owolabi
Director – Health Inequalities at NHS England
It's been so refreshing to work with the Diverse Data team at Genomics England ... I have learnt a lot and I feel like I have shared a lot. Hopefully enough to help make a difference. I do believe the work being done here can change the futures of generations in such a positive way.
Hazel Attua
Haemoglobinopathy Coordinating Centre (HCC) NEL Patient Representative
It’s promising to see Genomics England prioritise sickle cell disease as part of their Diverse Data initiative and we very much look forward to developing a partnership with them to raise the voices of patients, improve research and have a positive impact for the sickle cell community.
John James OBE
Chief Executive, Sickle Cell Society
How can I get involved
If you have sickle cell, we will be starting our pilot phase recruitment in early 2024 in a small number of hospitals in England. You may be approached to enrol at your next check-up. We will be expanding our opportunities to enrol until December 2024. More information coming soon. If you would like to be kept up to date as this initiative develops, please contact us at [email protected].
