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Clinical Genetics Service

How to make a referral to Clinical Genetics

Common referrals and info for patients and professionals

Mainstreaming cancer genetics

Patients who are UNLIKELY to benefit from a referral to Clinical Genetics

Requesting genetic testing

Prenatal care and testing

GENI: Genome and Exome sequencing Northern Ireland

Patient support & other useful information

Key documents and leaflets

Patient registries

Research studies


What is Clinical Genetics?

The Clinical Genetics department see patients (adults and children) with a personal or family history of a genetic condition, or those who are suspected to have an underlying genetic condition. In some cases, we may undertake genetic testing to try and find an underlying genetic diagnosis. We may also undertake testing in family members who are at risk of inheriting a known genetic change in the family. In other cases, we may use information on the family history of certain conditions (e.g. cancer) to make recommendations about screening. Depending on the condition, we may make referrals to other health professionals, and can help signpost patients 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. We will also ask questions about your family history. Depending on the reason for the referral, you may be examined (for example looking at your face, hands, feet and skin, 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 to 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 do face to face clinics at various locations across Northern Ireland (e.g. Action Cancer, Altnagelvin Hospital, Antrim Area Hospital, Banbridge Polyclinic, Belfast City Hospital, Causeway Hospital, Daisy Hill Hospital, 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 run a number of specialist clinics (e.g. 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)
Dr Vivienne McConnell
Dr Shane McKee, Clinical Director
Dr Caoimhe McKenna
Professor Patrick Morrison
Dr Gillian Rea, Clinical Lead

Genetic counsellors

Genetic counsellors are healthcare professionals with training and expertise in genomic medicine and counselling skills.  Genetic counsellors work alongside clinical genetics doctors and laboratory scientists. They are trained in interpreting family and medical histories, assessing risk, and providing information and education on inheritance, testing, management and prevention. They can 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
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