On this page we outline some useful web resources and apps to help you apply genomic medicine within your practice.
GeNotes
GeNotes (opens in a new tab) – genomic notes for clinicians – has been developed by NHS England’s Genomics Education Programme in collaboration with clinical and scientific experts from across the health service. It is a ‘just in time’ educational resource for healthcare professionals working in the NHS.
QGenome
QGenome (opens in a new tab) is a practical digital tool which helps busy clinicians apply genomic referral, risk assessment and testing guidance within a clinical setting.
It is intended for any HCP involved in patient care, working in primary, secondary and tertiary settings, including doctors, nurses, genetic counsellors, midwives, pharmacists and anyone else managing patients who could benefit from genomic testing.
DECIPER
DECIPHER is a global platform for genomic medicine hosted by EMBL-EBI on the genome campus at Hinxton, Cambs alongside the Sanger Institute which made the largest contribution to the human genome project to determine the reference sequence of the human genome of any institute in the world. DECIPHER is free to access and is widely used by staff in NHS Clinical Genetics services.
Find out more
To find information on a gene
Type the gene name eg. MYBPC3) into the search box at the top of the DECIPHER home page and press enter (image 1).
All of the links are live and will take you to resources that will provide you with more information about the gene. Take care as some genes are linked to more than one disease, e.g. MYH7-related hypertrophic cardiomyopathy and MYH7-related dilated cardiomyopathy.
Make sure you are reading about the correct gene-disease entity for your patient.
Over the coming year, further links to gene specific support groups and information about new and emerging therapies will be added to the platform.
To find information on a variant
Add the variant as it is written on the molecular genetics report. This may be in a number of different formats but DECIPHER is flexible and can manage a variety of types of data entry.
- EP300:c.35C>T (opens in a new tab) coding sequence variant by HGVSc and HGNC gene symbol ·
- NM_001273.5:c.1933C>T (opens in a new tab) coding sequence variant by HGVSc and RefSeq transcript
- X:77652333 CTCT>C (opens in a new tab) DNA sequence variant by GRCh38 location (1-based)
This will take you to a landing page (image 2) which draws together lots of clinically relevant information about your patient’s variant including whether it has been seen before in other patients (DECIPHER & Clin Var entries) or in genomic control populations (gnomAD).
DECIPHER is kept up to date with frequent refreshes of information, so if there is a major change in this information, checking here is a good way to ensure that the information and advice you provide to your patient remains current.
Genomic medicine is a young specialty and knowledge is growing rapidly and some variant classifications and diagnoses may change over time. For example a Variant of Uncertain Significance reported in 2022 may have been seen multiple times in patients since and now be regarded as Likely Pathogenic (disease-causing) or may have now been seen at an equivalent prevalence in the control population (gnomAD) track and be Likely Benign.
BSGM, CGG and CGS
The British Society for Genetic Medicine (BSGM) provides a forum for professionals involved in genetics and genomics as a clinical service and research. As an umbrella organisation, membership includes a wide spectrum of clinical, laboratory and research disciplines, not only in specialist genetic services but throughout the health professions.
The UK Cancer Genetics Group (CGG) is a national, multidisciplinary organisation. Eligible members are those with an interest in hereditary predisposition to cancer including clinicians, genetic counsellors, clinical scientists and researchers.
The Clinical Genetics Society (CGS) is the UK professional association for clinicians specialising in the practice of Clinical Genetics and Genomic Medicine. CGS aims to advance and promote the science and practice of Clinical Genetics in order to better diagnose, understand, prevent, alleviate, and cure medical conditions with a genetic cause.