Our transformation projects

We are currently working on a number of projects that align with national NHS priorities such as the NHS Long Term Plan.

These projects lay the foundations for future, more mainstream genomics services as well as raising awareness of genomics.

Our work is enabling more people to get involved in genomics so they can see first hand the benefits to both patients and healthcare professionals. 

Our national transformation projects

ctDNA: supporting early diagnosis of cancer for patients who cannot have a tumour biopsy or do not yet have a confirmed diagnosis

DPYD: standardising the equitable implementation of DPYD gene testing and optimising clinical effectiveness for patients with cancer

Familial Hypercholesterolaemia (FH): increasing identification of FH in the community

Lynch syndrome: delivering a comprehensive service for the detection of Lynch syndrome

Monogenic Diabetes: improving the identification and treatment of monogenic diabetes

Nursing & Midwifery: delivering a systematic approach to integrating genomics into nursing and midwifery practice

Pathology: supporting rapid cancer genomic diagnostics through pathway improvement

Sudden Cardiac Death (SCD): supporting the BHF pilot through the delivery of a dedicated Inherited Cardiovascular Conditions (ICC) liaison for the coronial service for all patients with SCD

Regional transformation projects

Family History Questionnaire Service (FHQS): a digital tool to inform referrals to improve patient care in FH and cancer

Neurology: addressing unmet genetic diagnostic needs in 16-25 year olds with complex epilepsy and neuromuscular disease

QGenome – the Genomics Navigator: developing an app-based clinical decision aid tool to guide mainstream specialities in the use of genomics

Renal: integrating genomics into renal care pathways through raising awareness and upskilling healthcare professionals

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.