Institute of Genetic Medicine

Northern Genetics Service

Northern Genetics Service

Purpose

We provide clinical and laboratory genetic services to more than 3,000,000 people.

The Northern Genetics Service (NGS) caters for those living in:

  • Tyne and Wear
  • Cumbria
  • Northumberland
  • County Durham
  • Teesside

NGS works from a base at the Institute of Genetic Medicine (IGM) and from a satellite unit at James Cook University Hospital in Middlesbrough.

We house the service's two largest laboratories for molecular diagnostics and cytogenetics.

NGS is a directorate of The Newcastle upon Tyne Hospitals NHS Foundation Trust. It's one of 26 regional NHS genetics centres that cover the UK.

Our service

The NGS provides comprehensive, integrated, high quality clinical and laboratory services. We help reduce morbidity associated with genetic disease.

We aim to provide patients and other health professionals with information. It helps in decision making by individuals and families who have, or are at risk of, heritable disease.

To achieve this, there is close functional interaction between:

  • the sections of the service within the NGS
  • NGS and other centres around the country
  • between genetic services and other relevant clinical specialties

Background

During the past 20 years, the Northern Genetics Service has grown alongside the other component parts of the Institute of Genetic Medicine.

From its original home in a house in Newcastle, with few staff, the Northern Genetics Service (NGS) expanded in the 1980s and 90s. The clinical importance of genetics became obvious.

Initially, the clinical and academic components of the department were almost indistinguishable. As both grew, the need for accommodation to meet different demands of each was obvious.

Move to the Institute

This culminated in the move to the Instutute of Genetic Medicine (IGM) in 2001. There was the need for NGS and IGM to share the same space. Much of the success of each was born out of the relationship between the two.

The NGS now employs almost 150 people. The team consists of:

  • clinical staff working in the facility within IGM and in hospitals across the region
  • cytogeneticists identifying pre and post-natal chromosome abnormalities and cytogenetic variation within tumour cells
  • molecular diagnostic scientists searching for DNA variations associated with specific phenotypes

NHS staff of the Newcastle Muscle Centre, including Muscle Immunoanalysis Unit, are in NGS.

An affiliated laboratory, currently based elsewhere in Newcastle University, analyses mitochondrial DNA. Administrative staff support all this work.

Initial work

The initial academic work focused on identification of genes responsible for rare phenotypes.

In pre-human genome project days, finding the position of these genes was difficult.

Work relied on clinical staff identifying families in which analysis would be possible.

Identification of these genes improved the quality of the information provided to families.

Current Trends

There is an ever increasing demand for genetic services within the NHS. In the past five years alone, clinical referrals to our service have increased by more than 40%.

That increases the workload for our diagnostic laboratories, both cytogenetic and molecular. Use of genetic diagnostic tests is more common in other specialties, increasing demand.

As the government's agenda to ‘mainstream’ genetics moves forward, this demand will increase.

Move into common disease

Genetic services are moving on from just dealing with rare disorders. We're looking at gene interaction in common disease.

We've seen the first phase of this with expansion of services for patients with, or at risk of, cancer.

The Institute for Genetic Medicine (IGM) component parts work together to apply research findings to a diagnostic setting.

Syndromes

IGM has identified genes responsible for haemolytic uraemic and Cornelia de Lange syndromes. The Northern Genetics Service (NGS) has helped develop tests to diagnose these conditions in patients in the North East. Through the United Kingdom Genetic Testing Network, this has extended across the country.

We have collaborated to use matrix-assisted laser desorption/ionization time of flight technology. This developed to produce a rapid, cheaper test for hereditary haemochromatosis.

Cytogenetic analysis relies on identifying often subtle rearrangements of chromosome structure. This relies on the skill and perseverance of cytogeneticists.

Any abnormality smaller than three megabases is not visible to standard cytogenetic analysis. Any technique which can improve this resolution will have potential diagnostic significance.

Microarray technology

In the 1990s, fluorescent in situ hybridisation (FISH) was a step forward. The next revolution is use of microarray technology to identify cytogenetic abnormalities.

These are at or below one megabase in size and impossible to see using standard techniques. At NGS we have piloted this technique and hope to introduce it to diagnostic use within the coming year.

Blurred boundaries

The traditional boundaries between cytogenetic and molecular diagnostic analysis are becoming blurred. We have recognised this by establishing a molecular cytogenetics section within NGS.

The use of DNA analysis methods, such as:

  • QF-PCR in prenatal diagnosis of chromosome abnormalities
  • MLPA to identify specific chromosomal microdeletions

requires the skills of both a cytogeneticist and a molecular scientist.

Our research

It would be wrong to believe NGS staff simply apply research findings of those working in IGM. High quality research is of great importance in any NHS service and NGS is no exception to that. Such work continues within the clinical service and in the laboratories. Significant publications have arisen from each.

The challenge is not whether there will be new research findings of relevance. It is how best to move these quickly from a research setting to diagnostic service.

The concept of IGM as a building that would house both research and NHS activity is fundamental. NGS is working with IGM and Life Knowledge Park to develop a system to achieve this.

In the past 20 years, NGS and IGM have grown symbiotically. We have genetic research and services of the highest quality in the North East of England.

The next 20 years will bring changes that will make those we have seen to date pale into insignificance. We are well placed to embrace those changes.

We'll ensure the progress made continues. The quality of healthcare we can provide will get better and better.

Senior Personnel

The following people have key roles within the Northern Genetics Service.

Dr Paul Brennan (Clinical Director)
Mrs Helen Warlow (Directorate Manager)
Dr Rita Barresi (Head of Muscle Immunoanalysis Unit)
Dr David Bourn (Head of Molecular Genetics Laboratory) 
Dr Nick Bown (Head of Cytogenetics Laboratory)
Mrs Oonagh Claber (Lead Genetic Counsellor)
Mrs Lindsay O'Dair (Lead Genetic Counsellor)