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Welcome to the October edition of our regular newsletter, featuring 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.
A big announcement this month, which you may have seen in the national news, is the public launch of the Generation Study which is led by Genomics England and taking place in NHS hospitals across England. More on that below.
To suggest items for future editions, or to discuss ideas for developing communications or engagement within your Trust, please get in touch: i.kingsbury@nhs.net.
Here's a rundown of what we have for you this month: | |
News and updates - Generation Study launched
- Study finds huge benefits to diagnosis
- New Lynch Syndrome app launched
- Spinal Muscular Atrophy engagement
- Save the Date: NHS Genomics Healthcare Summit in December
- October awareness dates
- Road To Genome Podcast - series 3 episode 3
Laboratory updates
| | Events, education and training
- Variant interpretation sessions - Genomics Education Programme
- WGS at birth: Implementing the Generation Study
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Virtual Prenatal Genetics Short Course East Paediatric Genomics Forum & Haem-Onc Teaching Series
RAREfest 2024 Getting to Grips with Genomics (GPs) East Regional Midwives in Genetics and Genomics Network (RegMiGGs.net) Other GMSA events and events round-up Event calendars of other organisations
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Generation Study makes the headlines with national media launch | |
| Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of a world-leading study in NHS hospitals aiming to screen up to 100,000 newborns in England. The pioneering study aims to identify conditions in babies sooner, and could enable hundreds to benefit from earlier diagnosis and treatment that could help slow the progression of disease and improve or even extend their lives. | | | |
The Generation Study, led by Genomics England in partnership with NHS England, will see newborn babies offered whole genome sequencing using blood samples which are usually taken from their umbilical cord shortly after birth. You can find out more about the study at an event on 23 October.
More than 500 blood samples have been taken from newborns as part of the study at 13 NHS hospitals across the country, with plans to scale up to around 40 hospitals. In our region, the Rosie Hospital at Cambridge University Hospitals is currently taking part in the study.
You can read more about the study at the Rosie here and watch the BBC Look East report below. The Generation Study launch received national media coverage with an exclusive report on the BBC filmed at Birmingham Women and Children's Hospital, with further coverage in the Times, Telegraph and Guardian among others. | |
East GLH Medical Director, Dr Sarah Bowdin, speaking to the BBC World Service on the launch | | BBC Look East report on the Generation Study at the Rosie Hospital, Cambridge | | | |
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| Largescale study of children with genetic disorders finds huge benefits of diagnosis | |
| For Lisa Hawker, getting a diagnosis of her daughter Jaydi’s rare genetic condition was life-saving. Jaydi has a rare form of dwarfism which affects around 50 known people across the world. Her early months were defined by long stints in hospital. She had a large number of tests which failed to identify the cause of her condition. Her clinical geneticist invited her parents to enrol her in an innovative national study, to try an identify the cause. She was four years old when a blood test showed very low numbers of blood cells. | | | |
Dr Emma Kivuva, Jaydi’s clinical geneticist at the Royal Devon University Healthcare NHS Foundation Trust said: "Jaydi’s results came at just the right time. They explained what was wrong with Jaydi, and this enabled her doctors to look after her appropriately. She was found to have a very rare condition that causes increased susceptibility to infection, and a greater risk of developing cancer, in particular leukaemia".
The Hawkers are among 13,500 families, recruited from 24 regional genetics services across the UK and Ireland, to the Deciphering Developmental Disorders (DDD) study. Read the full story here. | |
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NEW app launched to support the 175,000 people in the UK with Lynch Syndrome | |
A new app has been launched to help people living with Lynch Syndrome to monitor and manage their condition, alongside their treating clinicians. Developed by a collaborative involving the University of Leicester, national charity Lynch Syndrome UK, NHS East Genomics and app developer Instant Access Medical, the app supports people with Lynch Syndrome through a user-friendly dashboard that can be used to focus conversations around approved guidelines and assist interactions with healthcare staff. | | | |
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| Do you have experience of working with families affected by Spinal Muscular Atrophy? | |
Clinicians at Warwick Medical School are gathering the views of healthcare professionals on newborn screening for Spinal Muscular Atrophy, including a survey and interviews. The results, when combined with data from members of the public and SMA community, will be fed back to the UK National Screening Committee to help them better understand the ethical and social acceptability of newborn screening for SMA across stakeholder groups. Find out more and access the survey. The research team can be contacted at SMAscreening@warwick.ac.uk. | |
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| NHS Genomics Healthcare Summit 2024 | |
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The annual NHS Genomics Healthcare Summit will be held on Thursday 12 December 2024 at the Queen Elizabeth II Centre, London. We will share the agenda and registration link on our website and social media channels when they are made available. | |
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There are a number of health awareness dates in October linked to genetics and genomic testing. Below we have listed some awareness dates this month along with links to further information, as well as any associated test codes in the National Genomic Test Directory (R=rare, M=cancer)
October is the awareness month for liver cancer and breast cancer, as well as a range of rare and inherited diseases including Charcot-Marie-Tooth (CMT) Disease, Down Syndrome (R445), Dysautonomia, Gaucher Disease (R272), Homocystinuria (HCU), Rett Syndrome, Kabuki Syndrome, Sudden Cardiac Arrest (R138), and Heart UK's National Cholesterol Month (R134). | |
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Spotlight on...Fragile X
To mark Fragile X awareness day on 11th October Professor Julian Barwell, Clinical Consultant Geneticist at University Hospitals of Leicester featured in a local BBC Radio Leicester report on Fragile X, which included an interview with a family from Leicester who are calling for more GP testing for Fragile X. You can listen to the segment below. | | |
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| Road to Genome Series 3 episode 3 | |
Series 3 of the excellent Genomic Medicine Service The Road to Genome podcast continues with a 2-part interview with Adam Clatworthy about his family's diagnostic odyssey. A journey that resulted in two of his children being diagnosed with the rare condition CRELD1.
You can listen to all episodes here or wherever you get your podcasts. | | | |
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| Changes in the Rare and Inherited Disease Genomic Test Directory re. testing criteria for patients with developmental disorders | |
Please be aware of several important changes in the Rare and Inherited Disease Genomic Test Directory concerning testing criteria for patients with developmental disorders. Intellectual Disability- The criteria for intellectual disability testing has been reviewed and updated.
- The criteria for Fragile X testing for intellectual disability has been reviewed and updated:
Congenital Malformation and Dysmorphism Syndromes- As a Genomic Medicine Service, we are working towards providing testing for Congenital Malformation and Dysmorphism Syndromes using whole genome sequencing as a standalone test. In the future, this standalone test will replace the requirement for a separate microarray test in most patients.
- Until the introduction of this standalone whole genome sequencing test, testing patients using microarrays, to identify copy number variation, is still indicated.
Please read the full update, containing all the changes, updates and detail, on our Rare and Inherited Disease Test Directory Upates page. | |
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RNA next-generation sequencing of solid cancer FFPE specimens | |
The East Genomic Laboratory Hub (GLH) is now offering RNA next-generation sequencing of solid cancer FFPE specimens using the Illumina TruSight RNA Pan-Cancer panel (TSPC). The TSPC panel targets 1,385 genes and is the same assay accessible via the Royal Marsden Hospital (RMH). Referrals previously accessed via RMH should now be re-directed to the EGLH. Therapeutically actionable gene fusions will be assayed via a more focused assay (Oncomine Precision Assay) which has a shorter turnaround time (2 weeks) and requires less tissue. Testing via the TSPC should be reserved for cases where expansive gene fusion analysis is required (typically diagnostic queries). An updated list of gene targets covered by EGLH NGS sequencing can be found here. When completing our referral form, please continue to select the test codes indicated in the National Genomic Test Directory for Cancer. Please indicate if you require RNA sequencing via the TSPC assay by writing “TSPC RNA” in the “Reason for Referral” box. The turnaround time of the TSPC assay is 3-4 weeks. For further information, please either contact the Solid Cancer team at the EGLH (cuh.eastglh-cancer@nhs.net) or the Molecular Pathology Leads (john.tadross@nhs.net / james.watkins4@nhs.net). | |
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NHSE statement following publication of NICE guideline (NG241) ‘Ovarian cancer: identifying and managing familial and genetic risk’
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NHS England note the publication, in March 2024, of the NICE guideline (NG241) ‘Ovarian cancer: identifying and managing familial and genetic risk’. NHS England recognises the guideline advises undertaking germline testing outside of the current eligibility criteria outlined within the National Genomic Test Directory. NHS England are currently reviewing the NICE guideline and assessing the impact on genomic medicine services, including consideration of the amendments required to align the NGTD eligibility criteria. At this current time, the eligibility criteria for testing set out in the NGTD remains unchanged. Referrers and providers should be aware of the NHS Jewish BRCA testing programme which offers BRCA testing to anyone aged 18 or older who receives NHS care in England and who has at least one Jewish Grandparent. Testing is available for this population through self-referral and tests can be requested through the programme website. All referrers to and providers of genomic medicine services are asked to continue to adhere to the eligibility criteria for genomic testing as outlined in the NGTD. Any questions in relation to this statement should be directed via email to the Commissioning Team within the Genomics Unit in NHS England: ENGLAND.genomics@nhs.net
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Events, education and training | | |
| Variant interpretation sessions - Genomics Education Programme | |
The Genomics Training Academy (GTAC) is inviting NHS colleagues from the specialist genomics workforce to register for free training on cancer susceptibility gene (CSG) germline variant interpretation. Webinars and virtual workshops from November onwards will support this two-week FutureLearn course. Find out more here | |
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WGS at birth: Implementing the Generation Study | |
Wednesday 23 Oct 2024, 5.30pm A free-to-attend online event discussing the Generation Study – see above. Experts and practitioners will discuss how the Generation Study is being implemented, and the benefits and risks that may be involved. The event will be chaired by Sarah Norcross, with speakers including Amanda Pichini, Dr Robin Lachmann, Phern Adams and Dr Chinthika Piyasena. Find out more and register. | | | |
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Virtual Prenatal Genetics Short Course 2024 | |
This skills based course is designed to give midwives and other health professionals working in a prenatal testing setting tools to help them to enable patients to access appropriate onwards referral. Register here. | | | |
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East Paediatric Genomics Forum & Haem-Onc Teaching Series | |
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There's still time to sign up for our next Paediatric Genomics Forum on Thursday 24 October. We're pleased to welcome Consultant Paediatrician Dr Richard Hastings, from Sherwood Forest Hospitals NHS Trust, who will be talking about his journey from an undergrad degree in Genetics to become a paediatric genomic advisor. Register your free place here.
Our East Genomic Laboratory Hub colleagues have set up a new Haem-Onc Teaching Series which will run every Wednesday, 1pm-1.30pm. Upcoming sessions for the rest of the year are: - 1 November - Normal haematopoiesis and ageing
- 29 November - Clonal haematopoiesis and CCUS
- 13 December - Myeloproliferative neoplasms part 1
To be added to this circulation list, please add your details (ensuring to include your job title and department) to our circulation list here. If you have already registered your details with us, you can still update your record to ensure that it has some mention of Haem/Haematology and/or Onc/Oncology in the job title and/or department fields.
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We're at RAREfest24 next month | |
If you're coming to Cambridge Rare Disease Network's annual RAREfest on 22-23 November, don't forget to have a genomics chat with us! The Festival kicks off on the Friday with an evening of music, performance, comedy, talks and innovative research inspired art to challenge perceptions, dispel myths and imagine the possible. You can see us, and many other organisations, at the Interactive Exhibition the following day at the Guildhall in Cambridge. Find out more and register here. | | | |
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Getting to Grips with Genomics - for GPs | |
Out of region but still very relevant for primary care colleagues., Surrey and Sussex Cancer Alliance are running a series of webinars aimed at GPs. The first, `Getting to Grips with Genomics' is on16 October at 1pm, with the second, 'Lynch Syndrome Explained', following on 6 November at 1pm on. Find out more and book here. | | | |
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New genomics community of practice for midwives | |
If you are a midwife working in the East Midlands or East of England and your role involves genomic testing - or you would like to join a community of practice to learn more about how genomic medicine can benefit your patients and service - join us for our regular series of Regional Midwives in Genetics and Genomics Network events (RegMiGGs.net).
Register your interest by emailing egmsa@nnuh.nhs.uk with the subject line 'RegMiGGs.net' and we look forward to seeing you at our next session on Wednesday 23 October at 12pm. | |
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Events of other regional GMSAs | |
Central and South GMSA have a number of education sessions over the coming months: North Thames GMSA have the following upcoming events: | |
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Round-up of other events and training | |
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Events calendars of other organisations (A-Z) | |
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New on our website:
Our Communities of Practice: | | Useful links and resources | | | |
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- 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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