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.
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
Sickle Cell Society and James Lind Alliance
We are working with the Sickle Cell Society and the James Lind Alliance to deliver a Priority Setting Partnership (PSP). This partnership will bring patient, carer and healthcare groups together on an equal footing to produce a Top 10 of jointly agreed research priorities for sickle cell and genomics. It will provide a rare and valuable opportunity for patients and clinicians to shape research in areas that are important to patients.
The Sickle Cell Genomics PSP will carry out a series of workshops to inform the design of an open-ended survey to gather uncertainties from patients, carers and healthcare professionals. It is delivered through a Steering Group consisting of patients, carers and a range of healthcare professionals with experience in providing services for sickle cell.
The scope of the Sickle Cell Genomics PSP is defined as:
- To identify the role genomics must play in better understanding sickle cell and how research can bring the best outcomes to patients.
- We define people affected by sickle cell as adults and children with any sickle cell genotype including those who carry one copy of the genetic change also referred to as carriers/trait.
- Our focus is on the UK population, but we will not exclude survey responses from those who live outside of the UK. We will note the locations of the people completing the survey.
The PSP will exclude from its scope questions about NHS services and care pathways.
Genomics is an inaccessible topic for many healthcare providers and publics, so in order to address this we are conducting an extra range of workshops with patients to the PSP process so that we can provide helpful information for people when asking them to complete our first survey for gathering evidence uncertainties.
How can I get involved
If you have sickle cell and would like to be involved in advancing genomics research on this condition, please visit the Improving Black Health Outcomes (IBHO) BioResource webpage. The IBHO BioResource is a new research programme from the NIHR BioResource in collaboration with King’s College London and Genomics England, focused on improving our knowledge and understanding of health conditions and their unique impacts on UK Black communities. Genomics England is collaborating with IBHO BioResource on a Sickle Cell-focused arm of the initiative, with the aim of building a world-leading sickle cell genomics research resource. If you believe you are eligible and would like to take part, or have any questions, please e-mail: ibho@bioresource.nihr.ac.uk.
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
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
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.