Genomic medicine plays a prominent role in both the diagnostic and treatment arsenal of haematologists.
Haematologists are now required to understand increasingly complex molecular biological concepts, including the following:
- Rapid diagnoses of inherited cytopenias.
- Identification of acquired somatic mutations which refine the prognostication of leukaemia patients.
- Development of genome engineering technology to develop CAR-T cells or potentially cure haemophilia and haemoglobinopathies.
Whilst current and future trainees will receive appropriate training and experience in this field, BSH has identified a gap in training resources available for current haematologists. On this page are displayed a number of publicly available links which explain some of the key concepts in genomic medicine.
Learn about the impact of genomics - Educational opportunities for health professionals.
Data Access and Use - How your data is used.
Find out about genomics through infographics and videos.
Published by the NIH in 2015, the following pages explains the basics of DNA and sequencing and the implications of the human genome project on medical applications. A brief guide to Genomics and DNA sequencing fact sheet.
Published by the NIH in 2015, this page specifically explains how genome-wide association studies (GWAS) are conducted and how they inform human health and disease. Genomewide Association studies fact sheet.
Genomics Enables Scientists to Study Genetic Variability in Human Populations.
Explores the concept of the “variants of uncertain significance” and its impacts on clinicians and patients. This is often a particularly challenging concept on receiving genetics reports.
A short blog from PLOS summarises the concept of “variants of uncertain significance”.
This publication from the Royal College of Pathologists (2016) discusses the clinical applications of genomics and how this is likely to transform medicine but also impact greatly on the current workforce and models of care within the NHS.
The Lancet: Genetic Epidemiology.
Introduction to a review series on precision haematology.
Inherited platelet disorders: towards DNA-based diagnosis.
Diagnosis of inherited bleeding disorders in the genomic era.