Clinical Genomics

In the Sheffield Clinical Genomics Department we see families and individuals at risk and affected by genetic conditions.

The service is based in OPD2 at the Northern General Hospital where we see both adults and children.

What is Clinical Genomics?

Clinical Genomics is a specialist service that helps people who may have, or be at risk of developing, a genetic condition.

Genomics is the study of genes and how they are inherited within families. The terms genomics and genetics are often used interchangeably. Genetics focuses on studying individual genes, while genomics looks at multiple genes.

Our genes are the instructions that tell the body how to grow, function, and develop. Sometimes changes in genes can lead to health conditions. Genetic or genomic testing looks for changes in genes that can cause these conditions.

Services

Our department provides many services including:

• adult-onset genetics
• cancer genetics
• Ehlers-Danlos syndrome
• paediatric genetics
• prenatal genetics
• research

Please see our frequently asked questions webpage for further information.

Adult-onset genetics

Although we are part of a children’s NHS Trust, the Clinical Genomics Service also sees adults with inherited conditions.

These include neurogenetic conditions, inherited cardiac conditions and many other inherited conditions which have an onset in adulthood.

The department is involved in diagnosing the conditions and arranging the appropriate genetic tests to confirm diagnoses.

We explain the nature of the condition, how it is inherited what management options may be available, and the options with regard to having a family.

Paediatric genetics

We see patients from birth to adulthood who are suspected of having a genetic cause for their condition.

We see patients with a variety of conditions including:

• congenital abnormalities
• development delay
• learning difficulties
• specifically diagnosed genetic conditions

Some of our patients have had a diagnosis while others are looking to find out if there is a genetic element to their condition.

When we see children in clinic we gather information about the child and their family. The child will be examined and often photographed and genetic investigations are carried out depending on the patient. Please see our frequently asked questions webpage for further information.

Specialist services

Two of our services, Ehlers-Danlos syndrome and Huntington’s disease, are provided for UK-wide and international patients and we are leaders in these fields.

We are not to be confused with Sheffield Diagnostic Genetics Service who are the laboratory service that carry out genetic testing for certain conditions and do not see patients.