Refer a patient to the Genetics department

This page includes information about how to refer a patient to the Genetics department at Great Ormond Street Hospital (GOSH).

The North East Regional Genetics service covers a population of 4.5 million in north and east London and Essex. It is based at Great Ormond Street Hospital, however the majority of our clinics are peripheral.

How to refer a patient

Please note from 6 August 2018 GP referrals must be made using the NHS e-Referral Service.

Clinical referrals and queries are accepted from GPs, consultants, associate specialists, cancer family history clinics, antenatal services, and other health professionals.

We only accept electronic referrals. For GPs, please refer through the e-referrals service. For other referrers, please email the referral to

Please ensure that a contact telephone number for the patient is provided with the referral.

Please contact the departmental secretaries for enquiries about general genetics patients.

For enquiries about cancer genetics patients, please contact 020 7762 6831/6786/6786/6077.

Cancer Genetics Referral Criteria April 2018 (222.26 KB)

Patients are sent an information leaflet with their appointment letter that explains what to expect at a genetics clinic.

Key staff

  • Dr Munaza Ahmed BSC MD(Res) FRCPD, Consultant Clinical Genetics
    Special interests: Cancer Genetics
  • Dr V.K. Ajith Kumar MBBS, MD, DCH, MRCP(UK), MRCPCH, MSc (Medical Genetics), Consultant in Clinical Genetics
    Special interests: Cancer Genetics, Neuroendocrine Disorders and General Genetics
  • Dr Angela Barnicoat MD, FRCP, Consultant in Clinical Genetics
    Special interests: Fragile X Syndrome and Medical Education
  • Dr Lyn Chitty, Reader in Clinical Genetics and Fetal Medicine
    Special interest: Prenatal Diagnosis
  • Dr Melissa Lees DCH, MRCP, MSc, MD, FRACP, Consultant in Clinical Genetics
    Special interest: Genetics of Clefting Disorders
  • Dr Alison Male BSc MRCP, Consultant in Clinical Genetics
    Special interests: Duchenne Muscular Dystrophy, Cancer genetics and Smith-Magenis syndrome
  • Dr Elisabeth Rosser FRCP BSc, Consultant in Clinical Genetics
    Special interests: Huntingtons Disease/Neurogenetic Disorders, Retinoblastoma and other Paediatric Cancers
  • Dr Richard Scott MA MBBS MRCPCH PhD, Consultant in Clinical Genetics
    Special interests: Dysmorphology, Imprinting Disorders, Childhood Cancer Syndromes, Development and Delivery of New Genetic Tests
  • Dr Louise Wilson MD FRCP, Consultant in Clinical Genetics
    Special interests: Clinical Dysmorphology and Skeletal Dysplasias

Referral guidelines

  • A child born with a congenital abnormality or inherited condition, if their parents want information about the condition and recurrence risks.

  • Adults born with a congenital abnormality or inherited condition wanting specialist advice about the condition, including management issues and reproductive options.

  • Parents of a child with difficulties which may be due to a genetic condition, referred for investigation and diagnosis.

  • A person with a known genetic condition in the family, to know the risks to themselves and/or their children.

  • A person with a strong family history of cancer (see cancer referral guidelines), wanting to know if they are at increased risk, and if they are, what options they have.

  • A person or a pregnant couple with a possible genetic condition in the family wanting to know if a diagnosis can be made, and if so, their risks and options.

  • A pregnant couple told that a test has given an abnormal result, wanting to talk about what the result means, and what options are available.

The patient will be allocated to the most appropriate clinician and clinic.

Cancer genetics referrals

Patients are sent a cancer genetics clinic information leaflet with their appointment letter that explains what to expect at a genetics clinic. 

Conditions not seen in Clinical Genetics

Alpha1-antitrypsin deficiency (29.5 KB) 

Certain types of Autism (50 KB) 

Carrier testing in recessive conditions (116.3 KB) 

Hereditary Haemochromatosis (37.5 KB)

Hypermobility (874.55 KB)

Information leaflets for patients are also available:

Alpha-1 Antitrypsin deficiency (85 KB) 

Hereditary Haemochromatosis (78 KB) 

Certain types of Autism (262.49 KB)

Carrier testing in recessive conditions (124.7 KB) 

Download: Clinical genetics - Information for families 

Please read our referral guidelines, which will help you decide whether a referral to our services will be useful.

These guidelines are written for those individuals who are unaffected by cancer. We also accept referrals for patients who have been diagnosed with a cancer.

You can make a referral to our department by sending in a completed referral form.

If there is additional information about the patient's family history, please give them a Family History Form to complete and send to us before the clinic.

The family history should be of affected blood relatives on one side of the family, either maternal or paternal. Please include their cancer diagnosis when assessing their family history.

Internet resources for health professionals

NHS Evidence is a service that enables access to authoritative clinical and non-clinical evidence and best practice through a web-based portal.

The NHS National Genetics Education and Development Centre has a section on their website for health professionals who would like to learn more about the genetics knowledge, skills and attitudes that are useful for clinical roles, entitled Learning Genetics.

The UK National Screening Committee website has information on all national programs, including antenatal and newborn screening.

Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr Victor A McKusick and his colleagues at Johns Hopkins and elsewhere.

Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge.

GeneTests is a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons.

The UK Genetics Testing Network (UKGTN) website has been designed for health care professionals (both clinical scientists and clinicians), commissoners and the public. Users are able to search an online database of UKGTN laboratories and the tests each laboratory provides.

The European Directory of DNA Diagnostic Laboratories (EDDNAL) is a non-profit directory supported mainly by funding from the European Commission, which is specifically intended for use by physicians, researchers and other medical genetics health professionals.

The Association of British Insurers has produced an information leaflet for consumers regarding the current moratorium on genetic testing and insurance.