North Thames GLH Collaboration Shortlisted for HSJ ‘Provider collaboration of the Year’ Award

The North Thames Genomic Laboratory Hub (GLH) are proud to announce that a collaboration facilitated by the North Thames GLH has been shortlisted for ‘Provider Collaboration of the Year’ in the HSJ Awards 2022.

The collaboration between Royal Marsden Hospital NHS Foundation Trust (Royal Marsden) and Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH) was established to transform standard of care diagnostics for paediatric haemato-oncology. Through an innovative testing panel and a streamlined service pathway maximising both partners’ expertise, this collaboration is improving diagnostic timelines and impacting clinical management decisions for children with blood cancer.

The teams at both organisations brought together scientific, clinical and research expertise supported by the North Thames GLH, and have worked incredibly hard to bring this service to patients.

Professor Michael Hubank, Head of Clinical Genomics (Research) at Royal Marsden and Scientific Director of North Thames GLH comments, “Paediatric haemato-oncology remains a leading cause of paediatric cancer mortality and through this collaboration we are enabling clinicians to better characterise cancers and personalise treatment. The HSJ Awards programme is allowing us to share our success and learnings, and we hope will help us ensure state-of-the-art techniques are available to the largest number of patients possible.”

“We are really proud of how this work is impacting the diagnosis and treatment of infants and children with blood cancers. Being able to offer rapid advanced genomic testing to all our patients increases our understanding of these cancers and will improve outcomes. It is great to see the hard work of the team being acknowledged through this award shortlisting” added Dr Jack Bartram, Consultant paediatric haematologist, GOSH.

The ’Provider Collaboration of the Year’ award recognises work conducted to align priorities between provider organisations, which lead to greater efficiency and the development of person-centred services. This could be formally, as part of a regional or national clinical network or development of a wider hospital chain, or more informally through shared resources: the real importance is that patients derive benefit from the arrangement.
The full list of nominees for the 2022 HSJ awards can be found at


2023 update of the National Genomic Test Directory: Deadline for applications 31 August 2022

The application phase for the 2023 update of the National Genomic Test Directory is currently open. Please find below an overview of the process for updating the test directory;

Application phase

  • The deadline for applications is the 31 August 2022 – application forms can be downloaded here.
    • Please note that there is a form for applying for a new clinical indication, and a separate form for requesting amendments to existing clinical indications
  • Applications submitted before 31 August 2022 will be reviewed and considered for inclusion in the April 2023 update to the Test Directory
  • For applications submitted after 31 August 2022, NHS England and NHS Improvement will confirm the application review timeline with the applicant (applications submitted after 31 August 2022 may not be reviewed until the 2023-24 evaluation period).
  • Incomplete applications will result in a delay to the review process.

Publication of the Test Directory

  • An updated version of the Test Directory will be published in April each year including the changes recommended via the evaluation process.

If you have any questions please contact


Paediatricians wanted for one-off interview on the NHS Genomic Medicine Service

Evaluating the preparedness of paediatricians for genomic medicine.

A Service Evaluation project is being conducted to collect information from paediatricians about their views on and experiences with the new NHS genomic medicine service (GMS).

Paediatricians are invited to participate and do not need to have been directly involved in discussing genetic or genomic tests with patients for the purposes of this study.

We are interested in hearing your thoughts and experiences of offering genomic testing for children in the NHS Genomic Medicine Service. In particular:

  • Whether you have ordered any genomic/genetic tests for children
  • What your experience of ordering them has been like
  • Any barriers or concerns you have identified
  • How well prepared you feel for genomic medicine

If you would like more information, would be willing to participate in a one-off interview (lasting no longer than 1 hour), or have any questions, please get in touch with Sophie Marlowe, STP in Genetic Counselling and researcher for this study on .


EXPRESS Study Parent and Family Newsletter Launched

This month the EXPRESS (Optimising EXome PREnatal Sequencing Services) study has published its first newsletter for parents and families.

The voices of parents and families are central to research and
the EXPRESS newsletter is where you can find out all you need to
know about how the group are involving parents and families in their work.

The national prenatal exome sequencing (pES) service launched in
October 2020. This service is now offered as part of antenatal
NHS care when scan findings suggest that a baby may have a
genetic condition unlikely to be diagnosed by standard tests.
Because pES has not been offered in this way before, it is
important that we evaluate how it is being delivered. This is the
purpose of the EXPRESS study.

Over the next two years, the EXPRESS research team will evaluate the pES service. They will provide feedback about how it is being delivered
across England so that we can ensure a service that both benefits
and supports parents and families, and can be accessed equally
by everyone.


Change to WGS report formats for Rare Disease duo/trio referrals

As of May 2022, please note that for Rare Disease Whole Genome Sequencing (WGS) the NHS North Thames Rare Disease Laboratory at Great Ormond Street Hospital will no longer routinely issue separate reports for the parents in trio/duo referrals where there is no primary finding in the proband. A report will be issued for the proband as usual.

The laboratory will generate separate reports for parents where there is a finding in the proband that presents a significant recurrence risk to offspring or other family members. The process for requesting WGS and submitting samples remains the same, and more information can be found on our Ordering Whole Genome Sequencing page.

If you have any questions about this change, please contact our designated WGS address:


Now Available for the North Thames – The National Genomic Research Library hotline service

The National Genomic Research Library (NGRL) is a national research database owned by Genomics England which holds the genomic, health and sample data of patients who have undergone whole genome sequencing (WGS). All rare disease and cancer patients who are consented for WGS have the opportunity to share their anonymised data with this library.

This anonymised data is vital for advancing research, helping us to improve our understanding of human disease and develop treatments that can benefit patients with many conditions. More information about the NGRL can be found on the Genomics England website.

To improve the efficiency of the WGS/NGRL pathway and help patients and clinicians during the consent process, a hotline service for patients who need support to make a decision about the NGRL is being piloted.

The hotline is open Monday to Friday 9am-5pm and is overseen by members of the Genomic Research Team at Great Ormond Street Hospital. This team are available to consent WGS patients for the NGRL and answer questions they may have in relation to their participation. Please note, this team cannot complete clinical consent for WGS. All paperwork for WGS must be completed by the clinician.

If you are a clinician and would like to refer your patient to this service, please find more information here.


Newsletter launched for the EXPRESS Study

A newsletter has been launched to support the EXPRESS study (Optimising Exome PREnatal Sequencing Services) and the R21 Prenatal Exome Service.

The study, a three-year NIHR HS&DR funded project, has been set up to evaluate the implementation of prenatal exome sequencing now that the service is being offered as part of national mainstream care.

You can download the September Issue of the newsletter here!

To find out more about the research, and to subscribe to future updates, email the team at

For more information about the clinical service contact either the North Thames GLH Testing Laboratory at  or Central and South GLH Testing Laboratory at


2021/2022 funding opens for Master’s-level CPPD modules in genomics

Health Education England’s Genomics Education Programme (GEP) has opened the 2021/2022 funding application process for their Master’s-level CPPD modules and qualifications in genomics.

This is an exciting opportunity for NHS healthcare professionals in England who are interested in developing their knowledge of genomics and how it can be applied to clinical practice and medical research.

Seven partner universities will continue delivering a co-ordinated programme of genomic education after being awarded contracts in 2020. NHS employees in England can now apply for funding to undertake up to four individual CPPD modules that start before 31 March 2022.

There is also funding available for those wishing to extend previously awarded qualifications within the Master’s in Genomic Medicines framework.

You can find out more about the modules and how to apply for funding on the Genomics Education Programme website.


Digital breakthrough set to revolutionise clinical trial management!

A unique collaboration between The Royal Marsden NHS Foundation Trust and Hyland content services provider have produced an affordable and effective solution for paperwork-heavy clinical trial management suitable not just for The Royal Marsden but for any other NHS provider involved in clinical research.

Accelerated by the COVID-19 pandemic, which posed difficulties for researchers who needed to access trial information currently kept in hard copy, it will enable agile working, fit for the 21st century and allow pharmaceutical companies who need to check governance for the trials they sponsor to do so remotely. It will also free up physical space used to store huge volumes of paper copies.

Jane Lawrence, Director of Research Operations at The Royal Marsden NHS Foundation Trust said:

“What is so exciting about what we have produced with Hyland is that it is scalable; any NHS organisation with even small amounts of research can use this and where some pharma solutions would be cost-prohibitive, this is an affordable option whether a hospital runs many large multi-centre trials or participates in small tissue studies. As a specialist provider, The Royal Marsden has a responsibility to innovate and ensure that it can act as a test bed of best practice for the NHS. The Trust has a history of trialling new technology in clinic and we are proud that as a large research institution we can also innovate new technology for research data management that others in the NHS can take forward.”

Lisa Emery, Chief Information Officer at The Royal Marsden, said:

“We were already using Hyland’s OnBase enterprise information platform for patient record management, as are many other NHS and private hospitals and clinics, but until now all trial governance still had to be in hard copy and stored in a records office. Our researchers worked closely with Hyland’s developers to build on what we already had in place with OnBase and produce a paperless solution fit for researchers and pharmaceutical organisations”

Having invested resources into creating the Hyland Clinical Trials Management solution, The Royal Marsden will receive commission on certain onward sales, with the proceeds being re-invested into clinical trial administration and legal costs.

Ed McQuiston, Hyland Executive Vice President and Chief Commercial Officer, said:

“We are thrilled to extend our partnership with The Royal Marsden providing an agile and scalable digital data management solution to help manage clinical trial information access and governance remotely. We know the top priority for healthcare providers is, and always will be, their patients – and our focus remains supporting their mission to improve patient experience with innovative technology. The Hyland Clinical Trials Management solution will help NHS trusts evolve their clinical data management processes to ensure continuity for healthcare research providers.”


Meet a clinical scientist

After completing work experience at Great Ormond Street Hospital (GOSH), Clinda Puvirajasinghe was accepted on to the Scientists Training Programme (STP). Now, Clinda is a clinical scientist in the genetics laboratory, currently working on the 100,000 genomes project.

Clinda Puvirajasinghe

When I was at university, it seemed like only doctors were able to impact a patient’s health. Now, as a clinical scientist, I know that the background, indirect patient care that goes into diagnosis and treatment, shows that our work is also able to have an impact to patient management. 

“I’m a clinical scientist in the genetics lab. I’m split across two teams at the moment. One team is in the 100,000 genomes project. Children who have rare diseases have been recruited into this study, often after a long diagnostic odyssey. Their whole genome is being sequenced – it’s my job to analyse and determine the significance of the variants, take interesting variants to a multi-disciplinary team meeting, and report them, if required.”

When I was at university, it seemed like only doctors were able to impact a patient’s health

Clinda Puvirajasinghe, clinical scientist

Work Experience at GOSH

“I completed my bachelors in Molecular Genetics. I then wanted to do the Scientists Training Programme (STP), to become a clinical scientist. But I needed some work experience, because even though the entry requirement is only graduate entry-level, the quantity and calibre of applicants makes it hard to get into. You’re up against PhD students and people who have lots of lab experience, so I felt like I needed some work experience to help my application stand out.

“I applied for a placement at GOSH to improve my application. Despite not getting the placement I applied for, GOSH were able to give me an alternative role. The role I did get was fantastic. It was to help out with work in the deafness team including receiving samples, carrying out the technical work in the labs, analysing results and writing reports to send back to the clinician. It was a wealth of laboratory experience. Unfortunately, I didn’t get and STP offer that year, but I am convinced that I wouldn’t have got as far as interview stage if I hadn’t done summer work experience at GOSH.”


“The following year, during my Masters in Human Molecular Genetics, there was an opportunity to do a six-month research project at GOSH with the non-invasive prenatal diagnosis team. This further helped my STP application and thanks to this experience, I received an offer for the STP!”

Back to GOSH

“After the STP course, three years later, I returned to GOSH for a fixed-term role that soon changed into a permanent role. I think that GOSH are really good at staff retention and nurturing people through their career path, me being an example. In terms of developing staff, there are a lot of opportunities!

“Another benefit to GOSH is the multi-disciplinary aspect between healthcare professionals and strong academic connections. We have direct input from clinicians regularly. The rich expertise by the Clinical Genetics clinicians downstairs, complement our work very well, enabling optimal and safe patient care.

“The GOSH reputation also appealed to me. GOSH is well-known for its calibre of professionals. There’s an ongoing theme of bettering yourself – or what we call Continual Professional Development (CPD) – it’s always striving to be the best, to keep learning and take on new challenges. It’s allowed me to become involved in lots of exciting projects here.”

Advice to pass on

“A big part of the work we do is creating reports which get sent to the clinicians and saved within the patient’s notes. If you like being analytical, problem solving, paying attention to detail, with lots of challenges, this job is for you. 

“Starting with work experience or placements is also a good thing – here you gain a lot of experience that you later on rely on once you’re further up the career ladder.”

This profile is kindly reproduced from the Great Ormond Street Hospital NHS Trust