Refer a patient to the Genetics department

This page includes information about how to refer a patient to the Clinical 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. We see individuals of all ages in our clinics, not just children.

How to refer a patient

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

Please note that we only accept electronic referrals.

For GPs, please refer through the NHS e-Referral Service.

For other referrers, please email the referral letter to

Important notes for all referrals

1. Please note that NHS outpatient clinical genetics services are organised on a regional basis, dependent upon the postcode of the patient's GP practice. Regional genetics services usually have outreach clinics at several hospitals/clinics in their area.

Please check the GP postcode for your patient, to ensure they fall within the GOSH Clinical Genetics catchment area, before making your referral (See useful documents on the left of this page). Referrals that are out of area will usually be rejected, causing unnecessary delays for patients waiting to be seen.

2. If you are making a referral with regard to predictive or carrier testing for a healthy individual, please include relevant genetic report(s) from an affected family member (the actual report, not transcribed information). We need this information to triage your referral appropriately.

3. Please ensure that a contact telephone number for the patient is provided with the referral. Please also state if an interpreter is needed, and indicate the required language.

4. For full details of conditions that are seen and those which are not seen by the Clinical Genetics department, please see here.

Referrals relating to conditions where care is best managed by other specialist teams or hospitals will be rejected, causing unnecessary delays in patient care.

Urgent referrals

Please indicate clearly on the referral letter and the email subject header if your referral is URGENT.

This would usually include prenatal referrals, referrals for critically ill children and referrals for a child where their mother is currently pregnant. Rapid genetic testing (R14/R21) can be considered in these situations.

If you need to speak to a clinician regarding an urgent referral, please call the department on 0207 762 1814 and ask to speak to the clinician on-call.

More information regarding rapid genetic testing (R14/R21)

Rapid genetic testing for critically ill children is centrally funded for those cases meeting eligibility criteria, as per the National Genomic Test Directory.

All cases must first 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 department on 0207 762 1814 and ask to speak to the on call clinician covering the Rapid service.

For the R14 WGS Consent (Record of Discussion) form and more details regarding Rapid Genetic testing please see here.

Referral guidelines

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

  • Parents of a child with difficulties which may be due to a genetic condition, referred t Clinical Genetics for investigation and diagnosis.
  • 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.
  • 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.
  • A person with a strong family history of cancer (see Cancer Referral guidelines below), wanting to know if they are at increased risk, and if they are, what options they have.

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

  • A copy of the molecular genetic report confirming the diagnosis in the family where possible (not transcribed information).

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

  • name
  • date of Birth
  • NHS Number (if available)
  • hospitals where investigated or treated

Referrals that do not include this information may be rejected.

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

Cancer Genetics referral guidelines

Cancer Genetics Referral Criteria July 2020 (778.6 KB)

How to make a Cancer Genetics Referral

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.

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)