Overview

Welcome to the Central and South Genomics website. This page provides an overview of genomic testing across the Central and South geography, which includes the West Midlands, Wessex and Oxfordshire.

Central and South Genomics includes the Central and South Genomic Laboratory Hub, which coordinates and delivers genomic tests in the region, and the Central and South Genomic Medicine Service Alliance, which is focused on bringing genomics into routine clinical care, ensuring equity of access for all eligible patients.

More information is available on our Frequently Asked Questions page.

Consent

Every patient who is offered a genomic test will first have a discussion with a clinical colleague. This discussion will focus on potential test results, how you would find these results out, how long the testing process is likely to take, and what the results may mean for you and your family.

In some cases, a consent form will not need to be formally signed. For some genetic tests such as whole genome sequencing, patients will usually be asked to sign a record of the discussion. A copy of this record will be given to patients for them to keep.

Genomes

Every person has a unique genome – the complete genetic code for an individual. This information can be useful for healthcare staff to help in diagnosis and treatment.

Some of the differences in someone’s DNA can have an impact on someone’s health. They may cause a genetic condition, or they could make some people more likely to develop illnesses such as cancer.

Some conditions can be caused by a single change in someone’s DNA. More information on this is available on the Genomics England website.

Tests can also show the risks of developing some conditions. This may mean that preventative treatment can be offered (before someone has the condition or develops symptoms.

Testing can also provide information on conditions that can be passed onto children.

Finally, genetic tests can be used to diagnose conditions in an unborn baby.

Genomic Medicine Service

The 100,000 Genomes project paved the way for a new genomic medicine service (GMS) for the NHS – transforming patient care and enabling equity of access to advanced diagnosis and personalised treatments across England.

Pharmacogenomics

Genomic information can also help in studying individual responses to drugs. For some patients, this could mean their treatment changes, either by changing the drug they are given or altering the dosage.

Personalised treatments

Historically, the majority of patients receive standardised care. This means that everyone diagnosed with a particular illness, such as bladder cancer, is offered the same treatment.

Personalised care means people can choose how their care is arranged and provided. Small genetic differences between us provide enough information to ensure patients can be given a treatment plan that is right for them, individually.

Research

Analysing data from lots of patients with similar conditions will help develop knowledge about rare diseases and cancer, including how they could be treated. Patients who have genomic tests will be asked if their data can be made available to researchers for research purposes.

This data is anonymised, meaning it cannot be linked to a specific individual. The data will only be used if consent is given. Deciding not to provide data for research purposes will not affect a patient’s clinical treatment.

Resources

Health Education England have developed a genomics information programme. Find out more on the HEE website

Results

The data from genomic tests is analysed by scientists, usually at your local Genomic Laboratory Hub. This information will then be shared with a patient’s clinical team. The time it takes to receive results will vary considerably depending on the kind of test. Patients will be given a rough timescale for the return of their results. Once they have been received locally, a patient’s clinical team will arrange an appointment to discuss the results and what this may mean, including treatment plans. Some patients may also be referred for genetic counselling.

Whole genome sequencing

Whole genome sequencing means someone’s entire genetic code is captured, with staff then focusing on and analysing specific sections. This is different to single gene tests (focusing on a single gene) or panel tests (focusing on a small section of someone’s genetic code). Patients who are offered WGS will be given more information by their clinician.