Within the 2024-2025 financial year, the Alliance has funded/co-funded a range of genomic transformational projects, listed below.  

As an Alliance we are involved in the national Cancer Genomics Improvement Programme (CGIP); a vital NHSE-led initiative aimed at reducing turnaround times for cancer diagnostics and treatment in our region, by addressing the approved end-to-end turnaround times for various solid tumours and haemato-oncology cases identified in 2023.

Actions will be taken within each Alliance region across the end-to-end pathway, with the ultimate aim of delivering the approved turnaround times, which is key to enhancing patient outcomes and maintaining compliance with national standards.

Success relies on the strong support of regional Executive teams to ensure effective implementation and coordination across multiple departments and stakeholders.

We are collaborating with Genomics England in delivering the ‘Generation Study’, formerly known as the Newborn Genomes Programme.

This project will evaluate the potential of identifying actionable childhood-onset rare genetic conditions following birth, by sequencing and analysing 100,000 babies’ genomes.

This could contribute to improved outcomes and quality of life for babies and families.  More information on the study can be found here. 

The Generation study is a pioneering research initiative led by Genomics England in partnership with the NHS. Its primary goal is to sequence the genomes of 100,000 newborn babies to explore the potential of early detection and treatment of rare genetic conditions.

Key objectives:

Early identification of rare conditions: By utilising whole genome sequencing, the study aims to detect specific genetic changes linked to over 200 rare, treatable conditions that typically manifest in early childhood. Early detection can facilitate timely interventions, potentially improving health outcomes and quality of life for affected infants.

Advancement of research: With parental consent, the genomic and health data collected will be stored in the National Genomic Research Library. This de-identified data will be accessible to approved researchers, fostering studies that could lead to new diagnostic tools and treatments for genetic conditions.

 

Evaluation of Lifetime Genome Storage: The study will assess the benefits and risks associated with storing an individual's genome over their lifetime. This includes considerations of ethical, practical, and societal implications, with ongoing engagement from the public, healthcare professionals, and policymakers.

 

Distinction from standard NHS Newborn Screening:

The Generation Study is separate from the NHS's existing newborn blood spot screening (commonly known as the "heel prick" test), which tests for nine rare, treatable conditions. The study focuses on a broader range of over 200 genetic conditions and is conducted for research purposes to evaluate the feasibility and utility of genomic sequencing in newborn screening.

For more information on the project, please visit https://www.generationstudy.co.uk/

Professor William (Bill) Newman is leading a project exploring the pharmacogenetics of mavacamten, a treatment for hypertrophic cardiomyopathy.

Mavacamten is metabolised by the CYP2C19 enzyme, and individuals with two loss-of-function CYP2C19 alleles—classified as poor metabolisers—experience reduced enzyme activity. This leads to higher drug exposure, increasing the risk of adverse effects such as systolic dysfunction.

To enhance patient safety, the Medicines and Healthcare products Regulatory Agency (MHRA) advises genotyping before prescribing mavacamten. For individuals identified as poor metabolisers, a lower starting dose of 2.5 mg once daily and a maximum dose of 5 mg once daily are recommended.

Pharmacogenetics Roll Out – Gauging Response to Service (PROGRESS)

Alongside this work, Professor Newman is leading the PROGRESS programme, which aims to evaluate the feasibility of implementing a pharmacogenetic testing service across the NHS. The programme focuses on:

  • Developing and validating a genetic test for routine NHS use.

  • Creating a system to translate laboratory results into prescribing recommendations for primary care.

  • Partnering with GPs across the North West and England,  to trial the system in clinical practice.

  • Assessing the health economics to ensure the service is cost-effective for the NHS.

  • Engaging with patient groups across England to understand their perspectives on genetic testing in prescribing.

Integrating pharmacogenomics

These initiatives form part of a wider effort to integrate pharmacogenomics into routine NHS practice. By identifying genetic variations that influence drug response, the aim is to improve the safety and effectiveness of commonly prescribed medications, ensuring patients receive the most appropriate treatment for their genetic profile.