Regional projects

Project Aim
Methylation profiling for rare disease diagnosis Implementation and evaluation of DNA methylation diagnostics for rare diseases in the NHS
Rapid cardiac gene testing To design and implement a rapid cardiac gene panel test to aid urgent clinical decision making in high-risk clinical cardiac situations
Polypharmacy and the ageing population To understand the role of pharmacogenomic variation in the adverse consequences of multimorbidity in our elderly population
Alkaptonuria – breaking down barriers To increase the identification and effective treatment of individuals at risk of a rare inherited disorder, alkaptonuria.
Our digital DNA: baselining the North West and North East & Yorkshire informatics ecosystem To map the digital systems and business needs for genomic pathways from referring cancer and non-cancer organisations across the regions, and to use this information to develop a strategic roadmap across the full partnership, embedding genomic data into routine healthcare.
Integration of digital family history platform into the genomics clinic Streamline the family history information gathering process by using a digital platform, in the genomics clinic.
PALOH-D: clinical delivery of a point of care pharmacogenomic test  To implement point of care pharmacogenomic testing in neonatal units across the North West, to prevent antibiotic-associated hearing loss in babies.

National projects

We are the lead Alliance for the national DPYD gene testing project.

Project Aim
Optimising and improving the clinical effectiveness of DPYD gene testing for patients with cancer

Optimising and improving the clinical effectiveness of DPYD gene testing for patients with cancer. We are the lead Alliance for this project, which is a national initiative to optimise and standardise the implementation of DPYD pharmacogenomic testing, by identifying barriers and building recommendations for multi-disciplinary pathways and data collection as an example for future pharmacogenomic pathways.  

The project also aims to improve the clinical effectiveness of DPYD pharmacogenomic testing by establishing a clinical registry, listing relevant DPYD variants, and optimising the use of therapeutic drug monitoring

Familial Hypercholesterolemia (FH) Embedding the implementation of Familial Hypercholesterolemia (FH) services in primary care
Delivery of a comprehensive service for the detection of Lynch syndrome With the introduction of Lynch syndrome testing in the National Genomic Test Directory, all GLHs are expected to provide access to testing, in line with the NICE guidance for colorectal cancers and endometrial cancers.  There is an opportunity to build on the work of the Genomic Laboratory Hubs nationally to align pathways and progress across all Alliance regions, to drive standardisation, equity of access, and clinical benefit nationally
Integration of Nursing and Midwifery Enabling Nurse Leaders to drive the strategic and systematic integration of genomics across nursing and midwifery practice in the NHS across England.  Providing a framework for Nurse leaders to underpin a transformation in identified clinical pathways
Sudden Cardiac Death To support the national British Heart Foundation (BHF) pilot scheme being carried out by linking directly into the Cardiovascular Conditions units.
Monogenic Diabetes Improving the identification and treatment of monogenic diabetes
Pathology Accelerator Programme to support rapid cancer genomic diagnostics Pathology Accelerator Programme to support rapid cancer genomic diagnostics    This project will work with laboratories to improve the pathway for preparing and sending cancer samples to the Genomic Laboratory Hubs (GLH) improving access and turnaround times
100,000 Genomes Project Support the completion of the 100,000 Genomes Project

Our team is multi-disciplinary and includes Clinical and Alliance Directors, Nursing, Midwifery, and Pharmacy Professionals, Education and Training Leads, Programme Management specialists, and Communication, Engagement, and Equality and Diversity Leads.

We are working alongside our partners across the North West region, to embed genomics into routine healthcare.

All our projects are informed by our equality and diversity strategy which reflects our commitment to developing genomic services that meet the needs of the diverse population of the North West and how we continue to engage and interact effectively with our stakeholders.