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.
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.
Genomics Enables Scientists to Study Genetic Variability in Human Populations
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.
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.
Introduction to a review series on precision hematology
Inherited platelet disorders: towards DNA-based diagnosis
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