2022 - 2023 projects

Increasingly it is becoming possible to use blood samples to test the circulating free DNA (cfDNA) for the presence of disease-causing mutations in circulating tumour DNA (ctDNA), also known as liquid biopsy testing.

There are a number of use cases where ctDNA testing can be advantageous for various reasons. This includes difficulties in obtaining solid tumour biopsies,the patient is too ill to be able to withstand an invasive procedure, solid biopsy is infeasible or undesirable, disease monitoring by systematic liquid biopsy testing to identify drug resistance genetic changes to enable early detection of relapse is needed.

The project will provide evidence for the feasibility of a nationally commissioned ctDNA testing pathway, including the healthcare economics case.  In the North West patients approximately 100 patients will have an opportunity to take part in the project, with data from the project taken forward in a single national analysis of data from all GMSA regions.

​​​​​​​NW Clinical Lead: Dr. Matt Krebs, Christie NHS Foundation Trust

Some genetic changes in the DPYD gene can result in patients having a severe reaction when treated with fluoropyrimidine-based cancer medicines, sometimes resulting in significant harm to the patient.  Identification of these changes helps clinical teams, including pharmacists, to manage the dose of medicine given or provide an alternative medicine.  Our project has designed a standardised clinical pathway for national adoption, identified appropriate testing levels and organisations across England, and will audit prescribing behaviour in the NW to ensure the correct clinical action is taken, based on genetic testing results

NW Clinical Lead: Prof Bill Newman, Manchester University NHS Foundation Trust.

Pathology is the study and diagnosis of illness by looking at the tissues that make up our body. It underpins every aspect of patient care from diagnosis through to treatment and is a key enabler for genomic testing.

Following a cancer diagnosis patients may benefit from a genetic test.  In these cases, suspected tumorous tissue is taken in a biopsy procedure or during surgery.  Before being tested in a genetics laboratory, the tissue will be assessed by a pathologist, who then provides valuable information to the genetics laboratory enabling the correct test and technology choices to be made.

This process must run as smoothly as possible.  To improve the process, teams across the North West will work together to use a standard clinical way of working and assess if this improves the time it takes to receive a genomic diagnosis.

The Genomic Pathology Accelerator Project aims to analyse and improve the ways in which certain tumour samples are processed and used for diagnosis to optimise turnaround times and ensure a high-quality process by bringing  together clinical leads, biomedical scientists, and all other roles where pathology is involved, to assess what is needed and to help develop educational and training resources for the workforce.

NW Clinical Lead: Dr. Danielle Bury, Blackpool Teaching Hospitals NHS Foundation Trust

Working together in support of improved cancer diagnosis for patients with Lynch Syndrome

Lynch Syndrome is a rare condition that can run in families and leads to a higher risk of developing certain types of cancer including bowel (colorectal) and womb (endometrium/endometrial).

An estimated 200,000-300,000 people in the UK have Lynch syndrome, but only 5% have been tested and diagnosed. 

The 2022-23 project is focussing on colorectal and endometrial cancer patients.  We aim to support improved cancer diagnosis timeframes, to improve the quality of care and outcomes.

This project is taking place in all GMSA network areas, ensuring patients receive the most appropriate care through the Lynch Syndrome Pathway.  In our region, we are working closely with our Cancer Alliance colleagues to ensure strategic alignment of work packages in 2022-23.  The project covers the assessment of the clinical pathway to identify local barriers, implementing national guidelines, working with colleagues in pathology to ensure an effective process is in place, and arrangements for the coordination of the regional patient registry.   The project hopes to ensure patients access and receive the most appropriate care and genomic testing, providing access to training, education, and materials for healthcare professionals.

In collaboration with our regional Cancer Alliances, we are responsible for oversight and coordination of the project across the North West. Nationally, the project is being led by our colleagues within the NHS South East and NHS North Thames Genomic Medicine Service Alliances.

Improved testing and diagnosis make a real difference to patients and their families; a diagnosis provides the opportunity to reduce the risk of cancer developing, among family members.

How will our work make a difference?

• Improve early detection rates for cancer and Lynch Syndrome
• Identify potential preventative measures i.e., monitoring, to reduce the risk of cancer developing
• Improved access to emerging therapies and research programmes
• Improved outcomes and personalised care
• Support the embedding of a consistent approach to clinical practice and testing pathways across the region and nationally

A diagnosis of Lynch Syndrome can also influence the type of treatment plans for people who have or develop cancer, including impacting the surgical approaches chosen and the use of specific immunotherapy and chemotherapy treatments.

What impact have we made?

• Testing for Lynch syndrome in cases of colorectal cancer has increased from 23% in 2019 to 90%*
• Testing for Lynch syndrome in cases of endometrial (womb) cancer has increased from 3.5% in 2019 to 87%*

*As at 31 December 2022

NW Clinical Lead: Dr. Fiona Lalloo, Manchester University NHS Foundation Trust.

We are working across workforce groups to ensure clinical champions and trained nurses are in place within each diabetes service in the region and to ensure appropriate training is provided.  This will increase awareness of Monogenic Diabetes across the North West clinical workforce, and ensure patients have access to appropriate testing and appropriate follow-up care is provided.  The project will build a resilient network across the North West, ensuring clinical and nursing colleagues and linked and able to share improvements to services. 

NW Clinical Lead: Dr. Sabnam Samad. Liverpool University Hospitals NHS Foundation Trust 

Pharmacogenetics Roll Out – Gauging Response to Service (the PROGRESS project) looks to establish the feasibility of providing an NHS-wide diagnostic service to identify genetic changes associated with commonly prescribed drugs.

Medicines are the most common therapeutic intervention in healthcare, yet the efficacy and safety of many drugs show considerable interpersonal variation.  Some patients have been prescribed medication that does not work well, whereas others develop reactions to their medicines.  Sub-optimal medicines use is a globally important problem that costs lives and large sums of money.

This project will

1. develop and validate an initial genetic test for NHS use
2. develop a system to translate the laboratory findings into prescribing advice for use in primary care (GPs)
3. work with a small number of GPs across the North West to test the system
4. investigate the healthcare economics and implementation strategy to ensure the test is affordable for the NHSE and the way it can be adopted
5. work with patient groups across England to understand how patients feel about this type of testing

NB: More information on this project is available within our Education and Training Resources section, by clicking on the link to our Pharmacogenomics-specific resources page. 

The DEVOTE Programme is a collaboration between industry, universities, and healthcare professionals, in support of the development and implementation of time-critical genomic testing technologies. The programme links with PROGRESS, in relation to identifying how pharmacogenetics can be used to improve patient outcomes when they need treatment with common medicines like anti-depressants and statins.

Significant funding has been secured which builds on the successful PALOH study where Professor Bill Newman and colleagues, working in collaboration with Genedrive, showed that point-of-care genetic testing could be used in neonatal units to prevent babies from losing their hearing.

NW Clinical Lead: Prof Bill Newman, Manchester University NHS Foundation Trust 

The aim of this project to look at new technologies to improve genetic diagnosis in the NHS.  A wide collaboration between the NHS and Universities will generate evidence to facilitate the new technologies to be adopted by the NHS Genomic Diagnostic Hubs.  The project will establish new ways of working in the laboratories and guidelines and processes for clinicians so they understand which patient groups will benefit from these new ways of diagnosing disease.

NW Clinical Lead: Prof Siddarth Banka, Manchester University NHS Foundation Trust

This project supports one of the national pilot programmes in Sudden Cardiac Death and is located in North Manchester.  The NW GMSA team is working closely with the North Manchester Coroner's Office to support their work to improve the use of genomic testing in cases of Sudden Cardiac Death.  The NW GMSA is supporting by providing clinical guidance and genetic counselling expertise to this project, working with project colleagues to increase knowledge and ensure the genomic testing pathway is completed effectively and efficiently.

NW Clinical Lead: Prof Bill Newman, Manchester University NHS Foundation Trust  

Individuals with a family history of an inherited genetic condition (IGC) can access Genomic Medicine advice regarding options such as screening for a genetic disease or prenatal testing aimed at reducing health risks to themselves and/or their children. Adopted children are disadvantaged as lost connections with their birth family mean they are less likely to be informed about an IGC. We will assess how emerging information about an IGC is shared, processed, and understood by adoptive parents and adoptees to guide cross-specialty best practices to ensure equity of care for this vulnerable group.

NW Clinical Lead: Ms. Michelle Bottomley, Manchester University NHS Foundation Trust.

Pakistani and Bangladeshi men have a rate of heart disease two to three times higher than white British men. Diabetes and high blood pressure are also considerably more common. Recently, major differences became apparent as death due to COVID was 5 times higher in Bangladeshi and three times higher in Pakistani individuals than in white British counterparts.COVI

It is known that genetic changes are important in why people are more at risk of these devastating conditions. However, among the 500,000 participants in the UK Biobank project to study genetic changes that predispose to these conditions only 2,000 were of Pakistani background. Therefore, there is insufficient information to use genetic information to identify some of the important causes of these conditions in this population.

This project is a partnership project between the British Muslim Heritage Centre (BMHC) and the North West Genomic Medicine Service Alliance (NW GMSA). The experience and skills set of the staff at both organisations create an opportunity to address the unmet genomic medicine needs of many individuals and families across the NW region. The BMHC has considerable experience in engaging with the regional Muslim community including many of Pakistani and Bangladeshi backgrounds and can find new ways of improving health for communities in the UK including Pakistani and Bangladeshis.

One opportunity is to raise awareness of and encourage participation in the Manchester Genes and Health study. This is part of a national study linked to East London and Bradford where individuals of Pakistani and Bangladeshi ancestry are invited to participate. So far over 50,000 people have taken part in the study. This project is looking at why some individuals from these communities have an increased risk of important health problems.

Project Aim

Involve and increase the awareness of Genomic Medicine among Bangladeshi and Pakistani people from Greater Manchester so that new ways of improving their health can be found and improved.

The North West Renal Network has identified awareness of, and equitable access to, genomic testing as an area of significant need. The Renal Network is also in a unique position to ensure a programme of transformation that includes patients, carers, clinicians, and commissioners. This will be particularly key to embedding and sustaining improvements.

Barriers to mainstreaming genomic testing in renal medicine identified by renal doctors include having sufficient time to consent for and request genomic tests and adequate knowledge to confidently interpret and discuss results. the project will extend the identification of barriers to include other healthcare professionals and patients.

This project will integrate and embed genomic testing into renal pathways across the North West.

• There will be a focus on co-design with patients, clinicians, and commissioners
• Ensuring health inequalities are reduced will be a cross-cutting theme across the programme

The project team recently held an MS Teams webinar, during the Genomics Conversation Week 2023, which was requested by the North West Renal Network. 

NW Clinical Lead: Dr. Smeeta Sinha, North West NHS England & Improvement Renal Network and Northern Care Alliance NHS Foundation Trust

Genetic counselling is the process in which a trained professional helps an individual patient to better understand their risk of a genetic disorder or a disease with a genetic contribution (either through an established genetic test or by investigating their family history) and to adapt to any consequent medical, familial, or psychological implications.

Interest in the applicability of genetic counselling to psychiatric disorders is receiving growing attention due to advances in research and clinical delivery opportunities.

• It is now well established that all mental health disorders are heritable
• There is no genetic test to establish, confirm or refine a psychiatric diagnosis; people who live with psychiatric disorders and their family members are often interested in what genetic counselling can offer
• There is substantial research on the perceived risk for a psychiatric disorder, attitudes towards genetic testing, the need and interest for psychiatric genetic counselling

The project will explore the needs, challenges and opportunities for a psychiatric genetic counselling service in the North West of England.  Local clinical genetics and psychiatry healthcare professionals’ thoughts, opinions, and considerations regarding the need for and implementation of a psychiatric genetic counselling service will be explored and patient representatives will also be consulted.

Opportunities for service improvement will be documented and shared.

NW Clinical Lead: Dr Ramona Moldovan, Manchester University NHS Foundation Trust.

This project aims to improve equity of access to genomic testing for deafness through engagement, education, patient resources, and the developing of clinical networks throughout community audiology, hospital Ear, Nose, and Throat services, and audiovestibular medicine in the North West of England, linking clinical and laboratory teams.

NW Clinical Lead: Dr. Emma Burkitt-Wright, Manchester University NHS Foundation Trust

Research has shown that stigma and lack of understanding of genetics and cancer risk mean patients from ethnic minority groups are less likely to seek screening and family history referral.  Low uptake of cancer screening and referral for cancer family history clinics in minority ethnic groups leads to significant health inequality in cancer prevention.

In this project, we plan to quantify inequity in referral rates, engage with cancer services, provide education and raise awareness to improve referral rates in the East Lancashire area, where 30% of the population is of Pakistani heritage.

NW Clinical Lead: Ms. Naz Khan, Manchester University NHS Foundation Trust

Genomic medicine and the type and availability of genetic tests available to clinicians are growing at a rapid rate and will continue to grow in the future. A key element of genomic medicine is linking a detailed description of the patient, including medical imaging and associated reports with the patient’s genome which is obtained from genomic tests.  This link allows for the effective provision of genomic medicine at the point of care.

The way clinical descriptions of patients and genetic variants are currently stored in clinical systems does not lend itself to automated linking or the ability to easily search for such links. Existing formats are biased towards clinicians with genetics expertise. This makes it difficult for non-specialists to engage with genetic medicine which restricts its patients from receiving effective care.  Genetic medicine is now at the stage where digital solutions are required to support clinicians making decisions involving genomic information.  

Gen-o is an app that enables clinicians to share patient observations, link these to genomic data, and collaborate on patient treatment more efficiently than existing methods. This enables:

• Improved meetings to discuss complex patient cases
• Patient data from multiple hospitals can be seen in one system. This is of particular importance when treating patients with rare conditions
• Clinicians can easily search historical patient information. This is also of particular importance when treating patients with rare conditions where a clinician may only encounter the condition a few times in their career
• Non-specialists doctors will increase their knowledge of genomic diseases and improve the care of their patients

The project will undertake a pilot of the Gen-o app across different hospitals in the North of England to ensure it works for all clinical users, in a variety of hospital settings.  The project will document the wider clinical needs of such systems and ensure there is an understanding and the correct approvals in place for the sharing of patient data.

NW Clinical Lead: Prof Graeme Black, Manchester University NHS Foundation Trust. 

TRANSFORM (Translating WGS From Research to Routine Medical practice) is at the interface between research and routine clinical practice to translate learnings from existing pathways in the research setting to NHS routine healthcare delivery. The Christie are leading national programs in precision medicine and genomic testing in the research setting and have extensive knowledge in addressing the challenges faced in changing pathways, turnaround times, and interpretation of results.

The personnel supporting this project are based at The Christie NHS Foundation Trust and will interface with colleagues developing whole genome sequencing (WGS) pathways in the IMPACTT project from the Cheshire and Merseyside and Lancashire and South Cumbria Cancer alliances for shared learning.

The TRANSFORM project aims are:

• To develop a pathway to facilitate the collection of biopsy samples for WGS for patients with advanced cancer, with the overall goal of integrating this into routine care.
  • To establish a routine pathway for the acquisition of fresh frozen tissue samples for advanced cancer patients initially in Greater Manchester
  • To share learnings and develop pathways in select disease types across all 3 North West cancer alliances
  • To assess the clinical utility of WGS in selecting routine treatment or clinical trials for patients with advanced solid tumours including carcinoma of unknown primary (CUP)
  • To compare results between WGS and circulating tumour DNA to help explore how broad panel ctDNA testing could be incorporated into the Genomics Medicine Service pathway in the future