Phenotypic characterisation of blood disorders
Research type
Research Study
Full title
Improving diagnosis of rare blood disorders by deep phenotyping through specialist laboratory testing
IRAS ID
313003
Contact name
Suthesh Sivapalaratnam
Contact email
Sponsor organisation
Barts Health NHS Trust
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Non-malignant blood disorders (NMBD) encompass a range of complex disorders including anaemias, haemoglobinopathies, bleeding/platelet disorders, and immunodeficiencies. Although they can vary in severity, they often cause serious long-term health problems and therefore have high associated healthcare costs. Precision diagnosis and more thorough characterisation of NMBD would enable better targeted treatments, and thus significantly better patient outcomes.
Barts Health NHS Trust is a comprehensive care and regional referral centre for blood cancers and NMBD, in addition to having the largest blood transfusion department in the UK. Although it utilises expert on-site NHS laboratories that run a variety of accredited diagnostic tests, diagnosis of NMBD can be enhanced by use of more specialised tests only currently available within research laboratories. However, the clinical utility of using parallel NHS and research laboratory tests for diagnosis has not been systematically evaluated.
The Phenotypic characterisation of blood disorders study is a cross-sectional, longitudinal, and observational study of patients with NMBD referred to Barts Health NHS Trust. All eligible, consenting patients will undergo specialised testing using spare or additional blood/tissue samples collected alongside NHS diagnostic test samples. Samples will be pseudonymised and, following consultation with Barts Health NHS Trust Haematology team, a range of specialised tests will be run. Results will be returned to the NHS diagnostic laboratory, de-anonymised, and evaluated by the Haematology team in conjunction with test results from the NHS diagnostic laboratory. After consideration of NHS diagnostic and specialist laboratory test results separately and together, precision of diagnosis will be defined using a standard diagnostic ontology system and recorded for each patient.The study objective is to improve understanding of the clinical utility of specialist laboratory testing, to evaluate whether these tests improve diagnosis and/or treatment in NMBD patients, and to subsequently identify which tests would be beneficial to develop as NHS diagnostic tests.
REC name
East Midlands - Leicester Central Research Ethics Committee
REC reference
22/EM/0270
Date of REC Opinion
5 Jan 2023
REC opinion
Further Information Favourable Opinion