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 letter to

Please ensure that a contact telephone number for the patient is provided with the referral. Please also mention if an interpreter is required and what language.

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

Urgent Referrals

This includes prenatal referrals and referrals for critically ill children for consideration of rapid testing.

Prenatal referrals

Please email the referral to the email above and mark as urgent. If you need to speak to a clinician regarding a referral, please contact one of the secretaries and ask to speak to the clinician on-call.Rapid genetic testing for critically ill children is centrally funded for those cases meeting eligibility criteria. All cases must be discussed and agreed with the clinical genetics team. Testing is done in the Exeter Laboratory, but samples are directed through GOSH molecular genetics laboratory. Estimated turnaround time for results is about 3 weeks from receipt of sample. If you have a patient that you want to refer a patient for Rapid genetic testing, please contact the secretary on 0207 762 6856 and ask to speak to the clinician covering the Rapid service.

Critically ill children for consideration of rapid genetic testing

R14 Rapid Exome Sequencing Form (698.6 KB)

Referral guidelines

The following illustrates the type of referrals seen by the Clinical Genetics Service.

  • 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 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.

If you are referring an individual where there is a known genetic diagnosis in the family we require the following information included with the referral:

  • A copy of the molecular genetic report confirming the diagnosis in the family where possible.

If molecular genetic report not available, please enclose information about the affected individual including:

  • Name
  • Date of Birth
  • NHS Number (if available)
  • Hospital where investigated or treated
  • 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.

Referrals that do not include this information may be rejected.

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

Deafness Gene Panel Testing information for families.pdf

Conditions not seen in Clinical Genetics

Cancer Genetics

Cancer Genetics referral guidelines

Cancer Genetics Referral Criteria July 2020 (778.6 KB)

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.

How to make a Cancer Genetics Referral

Please complete the form below and email to

Download: Cancer genetics 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.For enquiries about cancer genetics patients, please contact020 7762 6096 or 020 7762 6856 or 020 7762 6077 or 020 7762 6831.

Download: Family history form (327.01 KB)

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.