A study of Clonal Haematopoiesis in the Welsh population

  • Research type

    Research Study

  • Full title

    A Study of clonal haematopoiesis (CHIP) in the Welsh population: a study to identify environmental factors and genetic events that determine risk of progression to cancer and heart disease

  • IRAS ID

    280126

  • Contact name

    Caroline Alvares

  • Contact email

    caroline.alvares@wales.nhs.uk

  • Sponsor organisation

    Cardiff University

  • Duration of Study in the UK

    1 years, 6 months, 1 days

  • Research summary

    Genetic changes or mutations acquired with age can drive forward cancer and heart disease, the top killer diseases in the UK. There are >3000 cases of acute myeloid leukaemia in the UK per year. Genetic screening of blood reports a >10% frequency of mutations in the blood cells (clonal haematopoiesis/CHIP) of healthy people >65 years old, using an ultra-sensitive method of analyses called sMIPs (single molecule inversion probes). The biological, environmental and social determinants that cause these genetic changes in blood cells are unknown. The ability to identify individuals likely to progress would aid early diagnosis and monitoring before transformation to AML and progression to solid tumours and heart disease, which has also been linked to CHIP. In this prospective pilot study, we will optimise tracking of CHIP associated mutations in a cohort of healthy individuals using ultra-sensitive and cutting-edge assays. A comparative cohort of individuals presenting with blood count abnormalities to the University Hospital of Wales will also be included. Epidemiological, environmental and lifestyle information will be collected through HealthWise Wales and integrated with genetic data from 6 monthly blood sampling. This study will provide essential pilot data for a wider population study focusing on health risks leading to cancer and heart disease.

  • REC name

    Wales REC 3

  • REC reference

    22/WA/0003

  • Date of REC Opinion

    8 Feb 2022

  • REC opinion

    Further Information Favourable Opinion