BLOOD samples, bone marrow, amniotic fluid, skin tissue biopsies and sections of tumour are all analysed within the Wessex Regional Genetic Laboratory at Salisbury District Hospital.

The laboratory serves a core population of three million across the south central region of England and is one of 23 regional genetics laboratories in the UK. Its specialist service diagnoses genetic disorders for people throughout the UK and overseas, with hospitals in South Africa, Oman and Malta among those coming to the centre for its services and clinical reports.

Head of service Dr Christine Waterman, who joined the hospital in 1990, said: “We look for genetic changes – it could be changes that patients are born with which may cause a genetic disease from birth or early childhood or predispose to a late onset condition such as breast cancer or Huntington’s Disease.

“We also test for genetic changes that are acquired in tumours and blood cancers that help with the initial diagnosis as well as providing information about prognosis and treatment decisions.

“There are a broad range of tests we can do and they are increasing in number. Our knowledge of how the genome works has grown rapidly in the last few years but there is so much more to discover. It feels like we are in a genomic revolution. We have a very strong research department led by Professor Nick Cross, University of Southampton, we work closely with the Wessex Clinical Genetics Service at University Hospitals Southampton, and we publish a lot of papers every year in leading research journals.

“This has enabled us to rapidly translate research findings into new diagnostic tests, improving patient outcomes. For example, in blood cancers we have introduced prognostic tests to identify genetic changes in plasma cells in the bone marrow of patients with multiple myeloma which help haematologists to identify which patients will benefit from different therapies.”

The department has a strong reputation for breast cancer testing and it has recently expanded BRCA1/2 mutation testing to patients with ovarian cancer as the presence of a mutation would indicate that the patient may benefit from a newly licensed drug, a PARP inhibitor.

The genetics team at Salisbury District Hospital, in partnership with the Wessex Clinical Genetics Service and the University of Southampton, is one of 13 Genomic Medicine Centres leading the way in delivering the 100,000 Genomes Project.

The project is sequencing 100,000 genomes from around 70,000 people with the aim of transforming the way people are cared for. Participants are NHS patients with a rare disease, plus their families, and patients with cancer.

Patients may be offered a diagnosis where there wasn’t one before and there is the potential of new and more effective treatments.

A genome is an organism’s complete set of deoxyribonucleic acid (DNA), a chemical compound that contains the genetic instructions needed to develop and direct the activities of every organism.

Dr Waterman said: “We are involved in the development of next generation sequencing technologies – these enable us to look at whole panels of genes, that makes it more likely that we will pick up the cause of a patient’s disease.

“It’s like looking at a library where all the books of the human genome are located.

"The genome is made up of over three billion base pairs (letters on the pages) organised into individual chromosomes that would each be equivalent to whole bookshelves.

"Historically, we were limited to looking for missing or additional copies of whole shelves of books in the library or looking in a single chapter for a mistake in one word.

“With next generation sequencing technologies we can now look for small mistakes in a whole section of the library or even the whole library. As any individual will have millions of variations in their genetic code that are not associated with any disorder, the role of the clinical scientists is to establish whether there is evidence that any particular change is relevant to the referral.”

The team at the hospital involves 85 members of staff - 75 per cent of those are involved in diagnostic translational research.