Clinical Genetics is the medical speciality which provides diagnostic testing and genetic counselling for individuals or families with, or at risk of, conditions which may have a genetic basis.
Genetic disorders occur across the whole lifespan and may affect multiple family members and generations. Families often require both specialist diagnosis and health management.
Clinical genetics is a multidisciplinary specialty involving clinical geneticists, genetic counsellors, genetic nurse specialists and genomic practitioners.
In the North East and Yorkshire there are three Clinical Genetic Services provided by:
Leeds Clinical Genetics Service
Newcastle Clinical Genetics Service
Sheffield Clinical Genetics Service
NHS Trusts providing Clinical Genetics Services:
- Operate to common national standards, specifications and protocols.
- Provide access to a single national testing directory covering use of all technologies from single genes to whole genome sequencing.
- Give all patients an opportunity to participate in research for their individual benefit but also to inform future care for other patients.
- Build a national genomic knowledge base to provide real world data to inform academic and industry research and development.
The systematic application of genomic technologies has the potential to transform patient’s lives by:
- enabling a quicker diagnosis for patients with a rare disease, rather than years of uncertainty, often referred to in rare disease as the ‘diagnostic odyssey’.
- matching people to the most effective medications and interventions, reducing the likelihood of an adverse drug reaction.
- increasing the number of people surviving cancer each year by more accurate and early diagnosis and more effective use of therapies.