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A shorter update this month, to bring you some key information regarding our genomic laboratory service over the holidays, and to wish you a very Merry Christmas and a great start to 2025.
Here's what we have for you this month: |
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Laboratory updates - Holiday closures and testing arrangements
News and updates - NHSE Genomics Summit
- Genomics Networks of Excellence update
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Nurses leading first-of-its-kind cancer genomics service Cambridge scientists win Sarcoma UK award for ‘transformative’ genomics studyRecommendations to increase access to WGS for children with cancer
Conceptualising race, ethnicity and ancestry in genomic services
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Rare Disease Genomic Testing Recommendations Published
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The Road to Genome Podcast: Series 4
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Important: Holiday closures and testing arrangements
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NHSE Genomics Summit, London, 12 December
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A number of East Genomics colleagues attended the national NHS Genomics Summit in London on 12 December. It was great to see two of our patient reps, Chris Hind and Steve Tyler, included in the programme, in sessions on Advances in embedding genomics in the NHS and NHS genomics data and digital developments respectively.
Slides from the day will be made available shortly, and we will share these with you in our next update in the new year. For now, you can read reflections on the event from Professor
Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics, NHS England on the Summit in the GMS December update here.
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Genomic Networks of Excellence – Latest
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Nurses leading first-of-its-kind cancer genomics service |
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The East of England Cancer Alliance is aiming to embed
genomics in cancer care by creating a specialist team of six genomic clinical
practitioners.
This
national first supports ambitions to upscale the use
of genomics in the NHS. Read the full story here.
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East GLH scientists winners at Sarcoma UK awards for ‘transformative’ genomics study
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A team of researchers including
East Genomics scientists Dr James Watkins, molecular
pathology clinical lead, Jamie Trotman,
clinical scientist and Dr Helen Hatcher, Cancer Lead, and their colleagues have been presented with the Sarcoma UK Shining
Research of the Year Award.
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The
Award is in recognition of their work demonstrating the transformative potential of whole genomic
sequencing (WGS) for people undergoing treatment for sarcoma. The study was published earlier this year in the British Journal of Cancer. Read the full story here.
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Call for increased access to WGS for children with cancer
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A recent collaboratively organised workshop including
East Genomics has led to new recommendations for improving equity of access to
whole genome sequencing (WGS) for children with cancer.
WGS was commissioned by NHS England in 2021, but by 2022 it became clear that access is not equitable across the country. To establish the reasons behind this, the workshop brought together clinicians and scientists from across the UK.
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The outcomes, published in BMC Medical Education, highlight several education and training targets to support uptake and successful implementation of WGS across the UK... Read more here. |
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Conceptualising race, ethnicity and ancestry in genomic services: Clinician input needed
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Nishtha Bharti at the University of Oxford is exploring ethical preparedness in genomic medicine. She is conducting a study to understand the complexities of conceptualising race, ethnicity and ancestry in genomic services and is looking to interview genomics healthcare professionals. To take part contact Nishtha directly: nishtha.bharti@well.ox.ac.uk
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Rare Disease Genomic Testing Recommendations Published
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The Association of Clinical Genomic Science (ACGS), with NHS Genomic Medicine Service stakeholders, has produced a position statement 'Rare disease genomic testing in the UK and Ireland' to highlight the importance of timely and equitable access to rare disease genomic testing. You can read it in the Journal of Medical Genetics here.
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The Road to Genome Podcast: Series 4
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The first episode of Series 4 lands on 13 January and it's a cracking interview with 'rapping' Consultant Clinical Geneticist Professor Julian Barwell. Julian's recent work spans prostate and breast cancer, Lynch Syndrome, Fragile X, and he's even co-authored a children's book. You can still listen to the previous episode with Chris Hind, Chair of our Patient Panel, on his life with haemochromatosis and his thoughts on the power of the patient voice. Listen to all episodes here or wherever you get your podcasts.
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Other genomics-related podcasts:
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NHS Genomic Medicine Service Data Release Update
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An update to the fourth NHS Genomic Medicine Service (GMS) Data Release is now available in the Research Environment. NHS Genomic Medicine Service have provided the samples and clinical data, and have taken informed consent from the new NGRL participants, as well as the patients and families themselves who have made this possible.
This release update incorporates clinical data from NHSE and the ONS. As with the previous releases, please be aware that the data structure for NHS GMS differs from that of the 100,000 Genomes Project data, please see the release note for
details.
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Genomics Spotlight 2024 published
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The Department for Business and Trade (DBT) has produced the Genomics Spotlight 2024 to showcase genomics expertise in the UK and the latest developments that make the UK a hub for genomics business and investment.
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Kidney Research UK launches new rare disease research centre
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Kidney Research UK recently launched a new research centre - The LifeArc-Kidney Research UK Centre for Rare Kidney Diseases. The new centre will help thousands of people living with rare kidney diseases have a chance of a better future.
The £10M centre is being jointly funded by LifeArc, in partnership with Kidney Research UK, over the next five years. It will be led by Dr Louise Oni, senior lecturer in paediatric nephrology at the University of Liverpool and honorary consultant paediatric nephrologist at Alder Hey Children’s Hospital.
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Events, education and training | |
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28 Jan: Gene Therapy in Paediatrics
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The NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC) Gene, Stem and Cellular Therapies (GSCT) theme will host its first national Gene Therapy in Paediatrics education day on Tuesday 28 January 2025 in London. The event will bring together healthcare professionals from across the UK who are working to improve the lives of children and young people.
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29 - 30 Jan: The Festival of Genomics &
Biodata |
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Registration is now open for The Festival of Genomics & Biodata (FOG) in London, on 29 – 30 January 2025. Last year’s record attendance saw FOG become the UK’s largest life sciences event, and this year organisers are expecting over 7,000 people to join them at the ExCeL. Among the confirmed speakers are our very own Nursing Lead, Anita Murphy and Midwifery Lead Jo Hargrave.
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27 Feb: Genetics & Genomics: What Midwives need to know
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Our upcoming CPD day, in collaboration with the University of East Anglia, is tailored for midwives or those working within maternity services within the East region, who wish to gain an insight into how genetics and genomics can support
the care of the pregnant person, fetus or newborn, and the wider family unit.
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27 February 2025, Norwich |
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Learning outcomes: - fundamental principles of genetics
and genomic and the relevance to maternity
care pathways.
- key indications which warrant a referral
to clinical genetic services.
- the role and responsibility of the
midwife within genetics and genomics.
- sign-posting patients and clinicians to
key resources to support information provision.
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13 Mar: The Practical Application of Genomics
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A clinician’s guide: Improving diagnosis, treatment and outcomes through genomic medicine. A virtual conference on Thursday 13 March 2025. Find out more and register here.
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21 Mar: Practical Genomics and Genetic Testing for the Non-geneticist
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This one day, face-to-face course aimed at
doctors in training (especially medical and paediatric specialties), qualified
general clinicians without a background in genomics education, clinical nurse
specialists or midwives and pharmacists wanting to upskill in genomics, provides essential genomics knowledge
and skills for everyday clinical healthcare.
Participants will learn how genomic
variation can contribute to disease, how to request appropriate genomic
investigations, interpret genomic test results, talk to patients about genomic
testing and incorporate genomic data into patient management plans. Book
now.
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Our Forums, Networks and Teaching Series |
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Our Paediatric Genomics Forum series continues with:- 23 Jan: The Power of trio analysis: Why we should aim to obtain parental samples for WGS testing, featuring guest speaker Isobelle Delon, Head of Rare Disease Service at Cambridge Genomics Laboratory. Register here.
- 27 Feb: Imprinting Disorders, with guest speaker Veronica Govender, Consultant Community Paediatrician, Bedford Community Hospitals. Register here.
- 8 January - Plasma cell neoplasms part 1
- 22 January - Plasma cell neoplasms part 2
- 5 February - T cell lymphomas 2
Slides and recordings from our recent Prenatal Genomics Forum session Spotlight on Bereavement care in Maternity Services which was delivered by colleagues from Norfolk and Norwich University Hospitals, are available on our FutureNHS page here.
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Events calendars of other organisations (A-Z)
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New on our website:
Our Communities of Practice: |
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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 projects, mainstreaming, pathway development and wider education, training and and engagement should be directed to the East Genomic Medicine Service Alliance (East GMSA) at egmsa@nnuh.nhs.uk
To share future newsletter content or suggestions please email Ian at i.kingsbury@nhs.net.
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