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East Genomics Newsletter

July 2022

Welcome to the quarterly update from East Genomics in which we share updates from the East Genomic Laboratory Hub (East GLH) and the East Genomic Medicine Service Alliance (East GMSA).

As genomic testing is becoming more mainstream, we welcome feedback on this newsletter and suggestions on what you would like included or shared via other channels. Please do drop us an email.

Genomics Conversation Week

The last full week in June was Genomics Conversation week. Many facts, resources, stories and staff and patient case studies were shared by the Genomic Education Programme, ourselves and many other partners.

It was great to share stories from healthcare professionals leading impactful work across East of England and East Midlands.

Content was shared via our social media channels as well as the Cambridge University Hospitals' Twitter account. Social media posts were also sent to all NHS Trusts in our region and can be used at any time. 

New referral form for Cancer (solid tumour) tests
We have recently produced a new referral form for Solid Cancer test referrals. Please use the new form for any future referrals. It includes Histopathology Tumour Assessment Guidelines for information on sample and marking requirements. The form can be downloaded here.

Please note that this form is NOT to be used for any Whole Genome Sequencing (WGS) cancer referrals. All of our referrals forms can be found on the test referral form page on our website.


How is genomics changing pharmacy? 
As Paul Selby mentions in his video promoted during Genomics Conversation Week, genomics is starting to have a huge impact on pharmacy. It has been a factor for many years, with drug treatments targeting specific genetic variation leading its use. More recently, the focus has shifted to using genomics to predict how an individual will handle specific drugs to reduce harm and improve outcomes.

Read our article about how the first nationally-driven pharmacogenomics implementation project will help pave the way towards personalised medicine for many more patients. 

All pharmacy staff are invited to engage further and join the network of practice via NHS futures (search East Genomics). For more details email Paul Selby.

New genomic testing provides vital diagnosis for severely ill babies

A recent study which built on the findings from the Next Generations Children’s Project found that more than a third of severely sick babies referred for rapid whole genome sequencing (WGS) received a vital genetic diagnosis. Patients were recruited from several paediatric service settings in the East of England including NICU, PICU, paediatric neurology clinics and clinical genetics clinics. 

Results confirmed rapid WGS as an effective early test to aid diagnosis in severely ill children. Further details on the findings are available on our website. 

Nursing and midwifery expertise

The recently appointed nursing and midwifery staff at East Genomics are an essential part of the strategic team to support the mainstreaming of genomic medicine. Their aim is to help peers across the region take a proactive role in genomic medicine to help improve patient care and outcomes. Read more

Wanted: Clinical Nurse Specialist, Familial Hypercholesterolaemia (FH)

We have an exciting fixed term or secondment opportunity for a Clinical Nurse Specialist based at Norfolk and Norwich University Hospitals NHS Foundation Trust. Further information on this role can be found here

Pathology appointments

Dr James (Jim) Watkins and Dr John Tadross have been appointed as joint Molecular Pathology Clinical Lead for East GLH. They are working with our solid cancer scientific team and histopathology colleagues so that we can deliver the test directory across the East Midlands and East of England. 

Jim has been a consultant histopathologist at CUH since 2013, with a special interest in soft tissue and skin pathology, and is the lead pathologist for sarcoma. Jim has also been a consultant molecular pathologist as part of the Molecular Malignancy Laboratory, and now the GLH, since 2015.

John was appointed in a 50/50 split role between the GLH and histopathology at CUH earlier in the year. Prior to that he was an academic trainee at CUH where he completed his pathology training working with the solid tumour molecular team. He currently maintains research and teaching roles within the University.

Dr Michael Eden has also recently been appointed as the Pathology Lead for East GMSA. He is excited to start exploring ways of extending access to molecular testing across the region and breaking down barriers to test access equality.
Michael was appointed as a consultant histopathologist in 2016. He has been the histopathology and mortuary clinical lead at CUH since 2020 with a stint as interim GLH pathology lead in 2021. He previously led the West Anglia Cervical Cytology Network and has experience working across a broad range of geographies and disciplines. 

Please email us with any enquiries

National Genomic Test Directory updates

The test directory will now be reviewed annually with updates published in April. New timescales have been confirmed for future applications to update the directory in 2023. The next deadline is 31 August 2022 for consideration in the April 2023 update. Further information can be found here. 

Get Started with Genomics - CPD course

This two day workshop 'Get Started with Genomics' in November is targeted at NHS professionals who are keen to learn the fundamentals. It is a new hybrid (face to face or virtual) CPD course on 24 & 25 November, organised by the University of Exeter. 

Please see the programme at a glance or for further information or visit the website. Early bird discount is available until 30 September. 

Worth being aware of...

Genomics England Language Guide - this useful language and terminology guide provides some useful tips and recommendations when talking about disability, genomics and cancer. For example the term 'variant' is a better term to use than 'mutation' when referring to DNA we're born with.  It can be downloaded from the Genomics England website 

Genomics England Research Summit - This was a fascinating one day conference. Several East GLH staff and clinicians from our region presented including Professor Matthew Murray, Dr Mohnish Suri, and Professor Serena Nik-Zainal. Whilst this event has now passed you can still register to view sessions online. 

We are recruiting!

We are currently recruiting for several roles based at our main laboratory in  Cambridge. Do get in touch if you would like to hear more.

- Principle Clinical Scientist for Rare Disease

- Healthcare Scientist

- Genomics Specimen Reception Deputy Lead - closing soon!

- Clinical Scientist Rare Disease

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