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Welcome to the first edition of the East Genomics newsletter for 2023. Below we share updates from the East Genomic Laboratory Hub (East GLH) and the East Genomic Medicine Service Alliance (East GMSA).
We welcome feedback on this newsletter and suggestions for what you would like to see more of to help you in your roles and teams. Please do drop us an email.
If you would like to register your interest in attending our Showcase event planned for May 2023, please click the image below and enter your details, including a short message on your interest/role in genomics and genetic testing, or what you would like us to cover at the event. | |
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New genetic testing clinic for children with hearing loss
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A new clinic at Addenbrooke's is using genetic testing to help improve the treatment and care of children with hearing loss.
The clinic reviews patients and arranges for genetic testing, allowing for a fast and more precise diagnosis and quicker access to treatments when required. The service sees young patients of all ages but predominantly looks after infants from about six weeks old, following the results of their first routine baby hearing test. You can read more about this service, and how a genetic diagnosis helped young Clara, here.
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World Cancer Day, 4 Feb 2023
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For World Cancer Day this year (4 February) we shared some patients stories highlighting how genetic testing and community engagement are raising awareness and helping individuals and their families by improving detection, diagnosis and treatment of people with a range of different cancers.
Newly developed genetic testing of tumours could mean 'gift of life' for family members One particularly moving example was a conversation with Andy from Leicester. Diagnosed with what turned out to be incurable prostate cancer four years ago, a previously fit and healthy Andy underwent genetic testing through our local United Against Prostate Cancer (UPAC) project. Results revealed that Andy carries an altered BRCA2 gene, which is responsible for increasing a person's risk of developing several kinds of cancer.
With genetic testing having established an inherited component, Andy's brother went for screening and subsequently had his prostate cancer picked up at an earlier stage than Andy's, meaning he could start treatment well before Andy had. Read the full story here and watch Andy's story. You can also see our pages on Genomic Tests, and Genomics Education Programme resources on GENotes.
Community engagement seeks to narrow the health inequalities gap for black men with prostate cancer We also used the day to highlight how our United Against Prostate Cancer team are working with local charities B'Me Against Cancer and Prostaid, plus Leicester's Centre for Ethnic Health Research, to help tackle health inequalities in prostate cancer care in the East Midlands and East of England.
Dr Bola Owolabi, Director for Healthcare Inequalities at NHS England, took part in a short film centred on a Play Domino Talk Prostate event in Nottingham last December. One in four black men will get prostate cancer. Sylvester is one of those men. Dr Owolabi sat down with Sylvester, one of those men, to play dominoes and talk about it. You can watch the video on Twitter here and read a joint blog written by Dr Owolabi and Lindsay Thompson, co-founder, CEO and Service Development and Delivery Manager of B’Me Against Cancer (BMAC).
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Familial Hypercholesterolaemia reporting delays Due to capacity issues within the Cambridge Genomics Laboratory we are experiencing delays in resulting genomic testing for diagnostic Familial Hypercholesterolaemia (FH) tests. The teams are working to resolve these issues and aim to be delivering to nationally agreed turnaround times (42 days) by May 2023. Please contact the team with any queries: geneticslaboratories@nhs.net. Inherited Cancer Service The East GLH Inherited Cancer Team at Cambridge Genomics Laboratory and Nottingham Regional Genetics Laboratory are pleased to report that the consolidation of the Inherited Cancer NGS Sequencing pathway is progressing as planned. For test orders and samples submitted after the 1 of January 2023 the diagnostic test will include analysis and reporting of the additional gene content specified in the Rare Disease Test Directory and will provide copy number screening for all genes tested. For more information please see the letter sent out to clinicians in November 2022 detailing this change in service.
East Genomic Laboratory Hub Survey It has been a year of great change across the East Genomic Laboratory Hub with a large number of new tests being developed, efficiency improvements, and a determination to deliver genomic tests on the National Test Directory to the best of our ability.
If you have previously ordered genomic tests from East GLH (this includes our Laboratories within Cambridge, Nottingham and Leicester) we would welcome your feedback on our service over the last 12 months. Responses to this survey will help us know how we fare currently and where we can focus improvements more immediately. This survey should take less than 10 minutes to complete. Take the survey here. | |
Genomic testing capability ramps up at Leicester Laboratory We have increased genomic testing capacity across our region by enabling our Leicester laboratory to carry out urgent cancer testing on site. | | | |
The genomics laboratory at University Hospitals of Leicester (UHL) has recently installed new testing equipment so that the team can carry out more detailed genomic tests for certain cancers. The new equipment – known as a Genexus X – also enables our Leicester site to carry out tests where there is limited tumour sample available, which ultimately can help provide a diagnosis or further insight into the type of cancer patients are dealing with. This can be life-changing. Read more here.
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Whole genome sequencing reveals novel non-cancerous tumour mutation
Genomic testing on a young child’s growing tumour proved it to be benign after traditional laboratory methods were unable to give a firm diagnosis. The patient therefore did not need to go through major surgery or aggressive treatment.
The sequencing analysis has led to the discovery of a new gene mutation which will help in the diagnosis of future patients with similar tumours. Dr Solange De Noon, Clinical Research Fellow, University College London Cancer Institute and Wellcome Sanger Institute, explains: "This type of tumour is quite rare, and not one we would expect to see in children. WGS showed a specific rearrangement of the FOS Like 1 (FOSL1) gene, which has not been seen in human tumours to date."
Genomic tests and validation of results were carried out through NHS East Genomic Laboratory Hub and NHS North Thames Genomic Laboratory Hub (GLH). You can read the full story here.
Image: Dr Sam Behjati, Paediatric Oncologist, CUH and Professor Mike Hubank, Scientific Lead, North Thames GLH
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Rare Disease Day - 28 February 2023 | |
Did you know that 1 in 17 people will be affected by a rare disease during their lifetime? You can find out why rare disease is a healthcare priority in the UK, and how genomics can help, via Health Education England's Genomics Education Programme (GEP) rare disease education hub.
If you would like to discuss developing case studies around genomics and genetic testing for rare diseases - either from the perspective of your service or that of a patient for whom genetic testing has led to diagnosis/greater understanding/more targeted treatment etc. - please do get in touch with Comms Lead Ian Kingsbury. | |
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Post a pic of yourself wearing your stripy socks on Twitter, tag @medics4rarediseases with the hashtag #showyourstripes. They'll share all tagged posts and add them to their own online #showyourstripesgallery. Please email your photos to eleanor@m4rd.org | | |
Our Lead Scientist for Rare and Inherited Diseases, Kate Downes of Cambridge University Hospitals, took part in a session organised by the Cambridge Rare Disease Network for RareFest22 called ‘Finding a needle in a haystack’ on the subject of getting a diagnosis for a rare disease. You can view the recording here. | | | |
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As part of the national Nursing and Midwifery Transformation Programme, we are running a series of Cystic Renal Disease workshops in March, aimed at anyone who is involved at any point of a renal pathway.
No knowledge of genomics is needed to participate, and you can attend any number of sessions depending on your clinical commitments. Please see here for further information or contact paulne.simpson@nnuh.nhs.uk to register your interest.
We also have a very short (1 min) survey here. Please do share this with colleagues working in renal services. | |
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Genomics Expert Webinar 2: Introduction to CRISPR | |
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The January bulletin from Genomics Education Programme (GEP) can be viewed here.
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- Enquiries regarding any specific genomic tests should be directed to East Genomic Laboratory Hub (East GLH) on geneticslaboratories@nhs.net
- Enquiries in relation to transformational projects and wider engagement initiatives should be directed to the East Genomic Medicine Service Alliance (East GMSA) on egmsa@nnuh.nhs.uk
You can follow us on Twitter or LinkedIn. To share future newsletter content or suggestions please email ian.kingsbury@nuh.nhs.uk
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