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.


NIH: A Brief Guide to Genomics

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.

Published by the NIH in 2015, this page specifically explains how GWAS (genome-wide association studies) are conducted and how they inform human health and disease.

Nature Education (2014) describes natural genetic variation which exists in human populations

Genomics Enables Scientists to Study Genetic Variability in Human Populations

American Society of Human Genetics Toolkit: Genetics Education for Health Professionals

Toolkit from the American Society of Human Genetics containing numerous high quality informative resources for clinicians.

An invaluable resource for a haematologist whose patient had been entered in the 100,000 Genome Project and who was being sent the results of the whole genome sequencing. 

Journal of Law and the Biosciences (2018) : The challenges of genetic variants of uncertain significance in clinical practice

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.

PLOS Blog: What is a “Variant of Uncertain Significance?”

A short blog from PLOS summarises the concept of “variants of uncertain significance”

RCPath: Genomic transformation in pathology

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

Blood Journal

Introduction to a review series on precision hematology

Inherited platelet disorders: towards DNA-based diagnosis

British Journal of Haematology

Diagnosis of inherited bleeding disorders in the genomic era

One of the key issues genomic scientists are trying to address in haematological malignancies is the need for a standardised consensus for calling and interpreting somatic variants. The BSH Scientific Committee is represented on the standardised variant interpretation group (SVIG) of the Association for Clinical Genomic Science (ACGS).

The discussions SVIG have had concerning how to establish pathogenicity and actionability of somatic variants for clinical reporting can be found here.

The ACGS aim to develop UK guidelines for variant calling, including germline findings in somatic referrals. The BSH scientific committee have been discussing how this can best be taken forward for haematologists.

Useful Genomic Databases

Catalogue of Somatic Mutations in Cancer (COSMIC)
World Health Organisation: ARC TP53 database
Genome aggregation database (gnomad)
OMIM: An Online Catalog of Human Genes and Genetic Disorders