Clinical genetics is a specialty that focuses on investigation, diagnosis and management of rare disorders, and assessing the risk of some diseases based on the patient’s genetic makeup.

Clinical genetic services consist of clinical geneticists who are doctors, and genetic counsellors, who work within a multi-disciplinary team to see patients and families with inherited disease.

They are regional services, with three covering the North East and Yorkshire.  They take referrals from both primary and secondary care.

Clinical geneticists

Clinical geneticists are medical doctors specialising in the assessment, diagnosis and management of individuals and families affected by genetic disorders. The scope of our referrals covers the entire life course: from in utero life through to old age. Genetic conditions affect all walks of life and all manner of organ systems throughout the body.

A clinical geneticist will work with a variety of conditions, such as chromosomal abnormalities, single gene disorders such as cystic fibrosis or sickle cell disease, some cancers which are often inherited in a family such as breast or colorectal cancer, birth defects or congenital learning disabilities.

The role includes taking a full family history, which helps interpret the inheritance pattern of disease and to determine if a referred patient is in fact part of a wider family already known to genetics. They also ask the patient questions about their symptoms, undertake examinations and order genomic tests to help guide diagnosis and management. An important part of the clinical geneticists’ work is sharing the results of genomic tests with patients and working as part of a multi-disciplinary team to offer counselling to help the patient and family decide what is the right clinical approach for them.

Genetic counsellors

Genetic counsellors are an internationally recognised group of highly skilled healthcare professionals with training and expertise in genetic medicine and counselling skills. They have specific training and expertise in clinical genetics combined with counselling skills.

In the UK, there are approximately 300 genetics counsellors, the vast majority practicing clinically in the NHS.  Genetic counsellors have expertise and skill that can be applied in every stage of the patient pathway within genomic medicine.

What is the role of the genetic counsellor?

Genetic counsellors are skilled and trained in calculating genetic risk, explaining inheritance patterns, ordering genetic testing, interpreting variants, arranging medical and/or diagnostic testing as well as testing of relatives, predicting risks of genetic disease, referring patients for appropriate disease screening and handling all the consequent psychosocial and ethical issues raised for individuals and their families. They can also act as on-call specialists for urgent referrals to the clinical genetics service and triage referrals into the service.

They are the main health professional group who ‘takes care of the family’, facilitating family communication, coping and adjustment as well as cascading information and arranging testing of at-risk relatives. A key role that distinguishes genetic counsellors is that of being patient advocates both within a clinical genetics setting but more so in their work across specialities where the best interest of the patient and/or the family may find itself in conflict with what is deemed ‘routine practice’.


They can also:

  • support and advise non-genetics clinicians to deliver genomic medicine
  • provide education so that colleagues understand the nuances of informed consent relevant to genetic testing

What training is available?

The Association of Genetic Nurses and Counsellors is an organisation representing genetic counsellors, genetic nurses and non-medical, patient-facing staff working within the discipline of Clinical Genetics, NHS Genomic Medicine Centres and wider healthcare settings in the UK and Ireland.

Learn more here


How can I learn more?

Contact us to learn more

[email protected]

Our Lead Genetic Counsellors are:

Newcastle: Lindsay O’Dair and Oonagh Claber
Sheffield: Carrie Hammond and Richard Sayers
Leeds: Bill Beckett