Refer a patient to the Clinical 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.

Find out more about specific conditions seen and not seen by the Clinical Genetics department.

Referral examples

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

  • A child with learning difficulties or congenital malformation(s) which may be due to an undiagnosed genetic condition, referred to Clinical Genetics for investigation and diagnosis.
  • A child with a congenital abnormality or known 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, wanting to know if they are at increased risk, and if they are, what management options they have.

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.

Important notes for all referrals

  • 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. Referrals that are out of area will usually be rejected, causing unnecessary delays for patients waiting to be seen.
  • If you are referring an individual where there is a known genetic diagnosis in the family we do require 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 any available information about the affected individual such as: name, date of birth, NHS number, hospitals where investigated or treated. Referrals that do not include this information may be rejected.
  • 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.
  • Please check our information page about Conditions that are seen and not seen by the Clinical Genetics department, before sending your referral.
  • 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 on rapid genetic testing (R14/R21)

Rapid genetic testing for critically ill children (R14) and prenatal cases (R21) are centrally funded for those cases meeting eligibility criteria, as per the National Genomic Test Directory. Rapid testing may also be appropriate for a child with a suspected genetic condition if there is a current pregnancy in the family.

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.

Cancer Genetics referrals

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 in some situations.

Please complete the Cancer genetics referral form  and email this to

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.

You can also refer to our:

Cancer Genetics Referral Criteria July 2020 (778.6 KB)