July 2024

It was great to welcome over 400 people to our three Genomics Showcase events last week. You can access recordings, slides and further resources from these sessions below.

We also bring you all the usual genomics news, updates, events and training opportunities, including the latest updates from the central NHS Genomic Medicine Service team, and Health Education England's Genomics Education Programme.

We hope you continue to find these updates useful, along with the regular updates we make to our website and social media accounts. Here's a rundown of what we have for you this month:

Almost 500 people registered for our three Showcase events last week, and we were delighted to welcome a wide range of attendees from across NHS Trusts, the NIHR, Universities, Integrated Care Boards, Charities, Industry, members of the public and more.

A huge thank you once again to our fantastic speakers who, between them, covered the clinical, patient, research, training and service improvement aspects of genomic medicine and successfully engaged, informed and enthused our audience along the way.

Whole geneome sequencing a 'game changer' for diagnosis and personalised treatment of adult cancer patients

New research shows that a specific form of genetic test – known as whole genome sequencing, or WGS for short – is invaluable in patients with a certain type of cancer that is difficult to diagnose and treat.

Sarcoma can appear anywhere in the body, with around 5,300 people in the UK diagnosed with it each year. The research study was led by Dr James Watkins, Molecular Pathology Clinical Lead for the East Genomic Laboratory Hub, and was recently published in the British Journal of Cancer. The study offered WGS as standard care to 67 patients who were undergoing treatment for sarcoma at Cambridge University Hospitals NHS Foundation Trust over a two year period.

WGS changed the diagnosis in about one third of patients and enabled a third to be switched to a more personalised, targeted treatment. In contrast, the current standard of care identifies personalised therapies for just one tenth of patients.

One patient to benefit was Mr Balwinder Singh, from Bedofrd. Professor Serena Nik-Zainal, NIHR Research Professor of Genomic Medicine and Bioinformatics at the University of Cambridge, who was instrumental in Mr Singh’s treatment change, said: “thanks to WGS, we were able to find the genetic signature of his cancer and switch him to his new immunotherapy treatment... His case highlights just how important it is to offer WGS as standard to all sarcoma patients.” Read the full story here.

Genomics AI Network of Excellence Survey

The Genomics AI Network of Excellence, commissioned by NHSE, has now begun to mobilise. A key deliverable of this programme is to understand the landscape, opportunities, challenges and key requirements for the use of AI within genomic medicine. 

To support this, the network has collaborated with KiTEC to conduct surveys and interviews to ascertain broad perspectives across the genomics community. KiTEC is a multi-disciplinary health technology assessment team at King's College London with particular expertise in the evaluation of AI technologies in healthcare. 

To help understand current thoughts, understanding, and use of artificial intelligence within genomic medicine, the Genomic AI Network of Excellence are inviting you to take a survey to feedback your perspectives. All thoughts are welcome and hugely appreciated.

If you have any difficulty accessing the survey please contact catriona.inverarity@kcl.ac.uk. To be added to the Genomic AI Network of Excellence’s stakeholder list please contact Wesley.pigg@gstt.nhs.uk and paul.fleming@gstt.nhs.uk.

As Karine departs, we are pleased to welcome Anne Ticehurst and Shelley Nott (pictured) to the PPV Panel. Shelley is a fine art photographer and graphic designer who was diagnosed in 2017 with Lynch Syndrome after colon and endometrial cancers. She has strong links with Bowel Cancer UK, CRUK Online Insights Panel, Oxford Cancer Patient and Public Group and Lynch Syndrome UK . Anne is now retired after careers in IT, radiography, and academic research into healthcare improvement techniques. She is active as a Cambridge University Hospitals PPI Panel member, as well as being an Expert Collaborator Group (ECG) member for the PRECISE study. Read more about our PPV Panel here. If you would like to engage our Panel on any aspect of your work or service, please contact us here.

Please note that the laboratory is unable to accept blood samples or saliva samples from patients who have received an allogeneic stem cell transplant (including allogeneic bone marrow transplants), due to the presence of donor DNA. In these patients, a buccal swab sample or a skin biopsy should be referred. Please contact the laboratory for further advice on sample requirements. More on sample requirements here.

Updates to the National Genomic Test Directory for Rare and Inherited Disease will be released within the next fortnight. Details of new tests added and tests amended, plus changes to individual Clinical Indication eligibility criteria, will be detailed on our website here. Guidance and information will be circulated to users where changes significantly alter clinical practice. To make sure you receive relevant updates, please ensure we have your current details via our contact list sign up form.

On Sunday 15 September 2024, teams of healthcare and genetics professionals will embark on bike rides around Nottingham and Cambridge to raise money for charities supporting people with rare genetic conditions. In 2013, genetic professionals involved in the Deciphering Developmental Disorders Study took part in a charity bike ride between nearby genetic services, to raise money for national rare condition charities SWAN UK and Unique. The event was a great success, raising over £11,000, and so, 11 years on, it is being repeated!

How to take part

Does your role involve genomics, genetics or caring for people with rare conditions? Then why not join a cycle ride, provide vehicle support or set up another local ride!

• Nottingham loop: Contact Hazel Dinning Hazel.Dinning@nuh.nhs.uk
• Cambridge loop: Contact Jade Doughty jade.doughty@nhs.net

Monogenic Diabetes in Maternity - educational and networking event for maternity diabetes teams

East Prenatal & Paediatric Genomics Forum

East Genomics Scientists Forum

CPD study day - Genetics and Genomics: What Midwives need to know

This CPD study day has been designed for Midwives and will focus on:

• The core concepts of genetics and genomics
• How to recognise genomic red flags
• Maternal inherited conditions and how they can impact on pregnancy and birth
• The role of the midwife in prenatal screening and diagnosis
• An overview of applications to practice and the future of genomics in maternity services.

Genomics is included in the NMC standards of proficiency for midwives and genetic testing is becoming increasingly prevalent and more accessible in healthcare. This study day will support  midwives to be able to advise and support women and their families in genomic conversations. Find out more and register here.

For those of you looking to deepen your understanding of genomics, the Cambridge University Genomic Medicine Programme run a number of Genomic Medicine modules:

• Introduction to Human Genetics and Genomics
• Omics Techniques and the Application to Genomic Medicine
• Bioinformatics, Interpretation and Data Quality Assurance in Genome Analysis
• Application of Genomics to Infectious Disease
• Molecular Pathology of Cancer and Application in Cancer Diagnosis, Screening, and Treatment
• Pharmacogenetics and Stratified Healthcare
• Counselling Skills for Genomics
• Epigenetics & Epigenomics
• Advanced Bioinformatics
• Genomics of Common & Rare Disease

• Enquiries regarding any specific genomic tests should be directed to East Genomic Laboratory Hub (East GLH) at cuh.geneticslaboratories@nhs.net
• Enquiries in relation to transformation/pilot projects and wider education and engagement should be directed to the East Genomic Medicine Service Alliance (East GMSA) at egmsa@nnuh.nhs.uk

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