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Clinical Genetics Service

How to make a referral to Clinical Genetics
Common referrals & related information
Patients who are UNLIKELY to benefit from a referral to Clinical Genetics
Requesting genetic testing
Mainstreaming: Cancer genetics
Prenatal care & testing
GENI: Genome and Exome sequencing Northern Ireland
Patient support & information
Key documents & leaflets
Patient registries
Research studies
Tumour profiling in cancers
RMDS lab user bulletins


What is Clinical Genetics?

The Clinical Genetics department sees both adults and children who have a personal or family history of a genetic condition, or who are suspected to have an underlying genetic condition. In some cases, we conduct genetic testing to identify an underlying genetic diagnosis. We may also test family members who are at risk of inheriting a known genetic change. Additionally, we use family history information (e.g., cancer) to make screening recommendations. Depending on the condition, we may refer patients to other health professionals and guide them to research studies and support organisations.

What happens at a Clinical Genetics appointment?

At a Clinical Genetics appointment, the doctor or genetic counsellor will review your personal medical history and ask questions about your family history. Depending on the reason for the referral, you may be examined (e.g., looking at your face, hands, feet, and skin, and measuring your height, weight, and head circumference). With your consent, we may take photographs to document clinical features. If you require any genetic testing, this usually involves a blood sample. If it is not possible to take a blood sample at the time of the clinic appointment, we can help you arrange this via your local GP surgery or at a local phlebotomy hub, where available.

Where do we work?

The Clinical Genetics department is based at Belfast City Hospital, but we conduct face-to-face clinics at various locations across Northern Ireland, including Altnagelvin Hospital, Antrim Area Hospital, Ards Community Hospital, Banbridge Polyclinic, Belfast City Hospital, Causeway Hospital, Daisy Hill Hospital, Knockbreda Health and Wellbeing Centre, Mid Ulster Hospital, Portadown Health Centre, Royal Belfast Hospital for Sick Children, South West Acute Hospital, and the Ulster Hospital. We also offer virtual (telephone and video) appointments, where appropriate.

The Clinical Genetics department also runs a number of specialist clinics, such as those for 22q-related disorders, lysosomal storage disorders (adult), neurofibromatosis, tuberous sclerosis, and Von Hippel Lindau syndrome.

Clinical Genetics consultants

Dr Tabib Dabir
Dr Deirdre Donnelly, Training Programme Director (TPD) & Clinical Lead
Dr Shane McKee, Clinical Director
Dr Caoimhe McKenna
Professor Patrick Morrison
Dr Gillian Rea

Genetic counsellors

Genetic counsellors are healthcare professionals with training and expertise in genomic medicine and counselling skills. They work alongside clinical genetics doctors and laboratory scientists. Genetic counsellors are trained in interpreting family and medical histories, assessing risk, and providing information and education on inheritance, testing, management, and prevention. They counsel patients to promote informed choices, but they are not psychological therapists. Further information about the role of genetic counsellors in the UK is available on the AGNC website.

Gemma Corbett
Courtney Forgeng
Siobhan Harding Lester
Rachel Hardy
Claire Kirk
Sianan McParland, Lead Genetic Counsellor
Megan Pries
Janice Scott
Lucy Simpson

Clinical Genetics registrars

Dr Mairead Hegarty
Dr Ciaran McCarthy

Other

Sarah Lynn Boyle, Genomic Associate

Clinical contact: genetic.medicine@belfasttrust.hscni.net / 028 9504 8022

The Regional Molecular Diagnostics Service

Dr Shirley Heggarty, Head of Regional Molecular Diagnostics Service (Germline)
Mr Peter Logan, Deputy Head (Germline)
Dr Mark Catherwood, Head of Regional Molecular Diagnostics Service (Somatic)
Mrs Amy Logan, Deputy Head (Somatic)
Mr Simon McCullough, Head of Constitutional Cytogenetics (Germline)

Laboratory contact: GeneticsLabs@belfasttrust.hscni.net / 028 9504 7353