Sickle Cell and Genomics: Research Priorities
We worked with Genomics England and the James Lind Alliance in 2025 to identify the questions that matter most to people affected by sickle cell disorder, their families, carers and healthcare professionals.
The project explored the relationship between sickle cell and genomics, and brought people together to agree the most important unanswered questions for future research.
What is genomics?
Genomics is the study of a person’s genes and how they work together to affect health, disease and response to treatment.
Sickle cell disorder is a genetic condition caused by changes in haemoglobin genes inherited from parents. Genomics research helps scientists and clinicians better understand why people can experience sickle cell differently, why some treatments work better for some people than others, and how new therapies could improve care in the future.
Advances in genomics are already helping to shape new approaches to treatment, including gene therapies designed to target the underlying cause of sickle cell.
About the Priority Setting Partnership
A Priority Setting Partnership, or PSP, brings together people with lived experience, carers, clinicians and other professionals to identify and prioritise unanswered questions that research could help to address.
For this PSP, Genomics England and the Sickle Cell Society worked with the James Lind Alliance to gather questions about sickle cell and genomics. These questions were reviewed, refined and prioritised through a structured process.
The final Top 10 was published by the James Lind Alliance in November 2025. The wider list below shows the full ranking of 27 priorities discussed and agreed through the process.
View the JLA Sickle Cell Genomics PSP page
The full ranking of research priorities
These priorities are intended to help guide researchers, funders and organisations developing future work in sickle cell and genomics.
- How can genomics identify new effective therapies for sickle cell that can prolong life or cure sickle cell?
- Can genomics and genomic treatments predict, prevent or reduce severe sickle cell complications, such as organ damage, stroke and bone pain?
- How can genomics help to decide the best treatments based on a person with sickle cell’s genetic profile?
- How can genomics improve acute and chronic pain management strategies for people with sickle cell?
- Can genomics be used to better understand and avoid adverse reactions to blood transfusions?
- What is the role of genomics in improving the management of complications and outcomes of sickle cell in older adults?
- How effective is genomic treatment in reducing sickle cell milder complications that negatively impact day-to-day life such as pains, fatigue and susceptibility to infection?
- How can clinicians translate genomics advances into personalised tailored treatments for sickle cell care?
- What are the genetic factors that explain differences in responses to sickle cell medications?
- What are the genetic factors and mechanisms linked to the triggering and frequency of a sickle cell crisis?
- Can genomics be used to improve bone marrow and stem cell transplantation including the post-procedure effects of a transplant?
- What are the short and long term safety concerns and side effects of genomics treatments?
- How can genomics be used to better understand sickle cell trait?
- How can genomic approaches help improve understanding of the relationship between sickle cell and women’s health?
- Can genomics accurately predict which patients are likely to develop more or less severe symptoms or certain complications?
- How can advancements in genomics and genetic therapies in pregnancy improve sickle cell treatment before birth?
- How can genomics explain differences in severity of sickle cell symptoms and complications?
- Can genomic advances ensure people with sickle cell can conceive without their children inheriting the condition?
- How can education around genomics be improved to increase awareness and understanding among people with lived experience of sickle cell, families, the public and healthcare professionals?
- How can genomics help in understanding rare types of sickle cell such as Sickle-Haemoglobin D, Sickle-Haemoglobin E, and Sickle-Haemoglobin O?
- What genetic factors influence pain sensitivity in sickle cell?
- How can genomics reduce the frequency and severity of sickle cell crises that result in hospital admission?
- What is the inter-relationship between food, diet and genomics in sickle cell?
- How can genomics improve the management and treatment of sickle cell in newborns and infants?
- How can genomics effectively improve activities of daily living in people with sickle cell, for example physical activity, education and employment?
- What is the relationship between genomics and neurodivergence, for example dyslexia, attention deficit hyperactivity disorder and autism, in sickle cell?
- What role can genomics play in the effective management of sickle cell at home compared to in hospital?
Why this matters
Research priorities shaped by people with lived experience can help ensure future studies focus on the questions that matter most to the sickle cell community.
This work gives researchers and funders a clearer understanding of where genomics research could make a meaningful difference to treatment, care, quality of life and long-term outcomes for people affected by sickle cell.
