Specialised testing of rare blood disorders v1.2
Research type
Research Study
Full title
Specialised testing of rare blood disorders
IRAS ID
289967
Contact name
Andrew Mumford
Contact email
Sponsor organisation
University of Bristol
Duration of Study in the UK
4 years, 11 months, 31 days
Research summary
Rare non-malignant blood disorders (NMBD) are complex diseases affecting blood cells that include anaemia, immunodeficiency, bleeding, and abnormal thrombosis after COVID-19 infection or vaccination. Many NMBD cause serious long-term health problems and have high healthcare costs. Precision diagnosis of NMBD benefits patients by improving prediction of complications and enabling selection of targeted treatments.
University Hospitals Bristol and Weston (UHBW) is the SW regional diagnostic referral centre for adults and children with NMBD and utilises expert on-site NHS laboratories that provide a wide repertoire of accredited diagnostic tests. Diagnosis of NMBD may be improved by performing specialised tests available only within research laboratories. However, the clinical utility of combining NHS laboratory and specialised laboratory test results for diagnosis has not been evaluated systematically.
The Specialised Testing of Human Blood Disorders project is a cross-sectional, observational cohort study of NMBD patients referred to UBHW. All eligible cases who give consent, will undergo specialist testing using spare or additional blood samples collected at the same time as NHS diagnostic test samples. The samples will be pseudonymised before undergoing a panel of specialised test suggested by the NMBD multi-disciplinary team (MDT) at UHBW. Results will then be returned to NHS diagnostic laboratory, de-anonymised and reconsidered by the MDT alongside results from the NHS diagnostic laboratory. Precision of diagnosis defined using a standardised diagnostic ontology system will be recorded for each patient after considering NHS diagnostic test results alone and after additionally considering the specialist laboratory test results. The study objective is to is to estimate the number of NMBD patients in which specialised laboratory results improved precision of diagnosis.
This study will improve understanding about the clinical utility of specialist laboratory testing and will identify which specific tests or groups of NMBD patients are most beneficial to develop as NHS diagnostic tests.
REC name
West Midlands - Black Country Research Ethics Committee
REC reference
22/WM/0036
Date of REC Opinion
11 Feb 2022
REC opinion
Further Information Favourable Opinion