Genomic medicine is the future of healthcare service and it’s already here. We’re focused on accelerating the pace at which genomics is embedded into everyday healthcare.

How are we using genomics to drive positive change in services for patients?

NHS North East and Yorkshire Genomic Medicine Service Alliance is leading the National Nursing and Midwifery Genomics Transformation Programme to enable Nurse Leaders to drive the strategic and systematic integration of genomics across nursing and midwifery practice in the NHS in England.

We also lead a number of regional projects and make a contribution towards national projects led by our partners. Our projects are selected and designed in partnership with our Patient and Community Forum, to ensure that service improvements best meet the needs of our patients.

We are building links with researchers in the region to explore how we can support their work to improve people’s lives through research.

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Our Projects

ctDNA Testing Pilot Programme

Piloting Circulating Tumour DNA (ctDNA) Testing in Lung Cancer Patients for Earlier Diagnosis and Personalised Treatment

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DPYD Gene Testing for Chemotherapy Safety

Dihydropyrimidine dehydrogenase (DPYD) gene testing to increase safety of chemotherapy for cancer patients

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Familial Hypercholesterolemia – The Systematic Search

Familial hypercholesterolemia (FH) is an inherited condition that can cause extremely high cholesterol levels, even in people who have a healthy lifestyle, because it affects the way that cholesterol is broken down in the body.

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Feto-Maternal Pathway Transformation to Reduce Inequity of Access to Genomic Testing

This project is focusing on driving equality of access to prenatal and postnatal genomic testing for fetal abnormalities across the North East and Yorkshire. We have also received interest from the NHS in adopting our approach nationally.

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Lynch Syndrome for earlier cancer diagnosis

Lynch syndrome (LS) is a rare condition that can run in families and lead to a higher risk of developing certain cancers such as bowel, womb (endometrium), stomach and pancreas.

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Monogenic Diabetes – Early Identification for Appropriate Treatment

It is a rare form of diabetes caused by a mutation in a single gene and can often be misdiagnosed as type 1 diabetes, leading to unnecessary and time-consuming insulin injections.

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Pathology Accelerator – Rapid Sample Processing and Diagnosis

The Pathology Accelerator project will enable more rapid processing of tumour samples and diagnosis for patients.

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Primary-Care Based Service for Care of Rare Diseases

We’re mapping end-to-end care pathways and improving cross-specialty care co-ordination of specified rare diseases to develop a novel primary-care based service led by GPs with additional expertise in Genomic Medicine.

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Rare Diseases – Finding Undiagnosed Cases

‘Case Finding’ Project to help identify patients with undiagnosed rare diseases.

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Sudden Cardiac Death

Pilot project to identify family members at risk of Sudden Cardiac Death.

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Enhancing genomic diagnostic testing using RNA-Sequencing

Our DNA contains all the instructions telling our bodies how to work. Each individual instruction is a gene. We have two copies of most genes, having inherited one copy from our mum and the other from our dad.

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Research plays a vital role in building on our understanding about the role of genetics in the onset and treatment of disease. It’s also helps to validate new genomic tests and personalised treatments, so that they can be used in routine clinical practice.

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