Refer a patient to the Clinical Genetics department

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.

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 
  gos-tr.clinicalgenetics@nhs.net.

• 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.

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.

We also offer urgent diagnostic genetic testing for patients diagnosed with a cancer, where the result may directly impact their treatment options (such as surgical options or chemotherapy).

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.

If you are a patient who has contacted our department and you were advised to submit a self-referral, please complete this Clinical Genetics Self Referral Form.

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.

We accept cancer genetics referrals based on criteria as stated in the National Genomic Test Directory. We review each referral individually so please provide as much information as possible.

Please complete the Cancer genetics referral form  and email this to gos-tr.clinicalgenetics@nhs.net

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.

We are not in a position to provide interpretation of privately arranged genetic testing. This includes direct-to-consumer testing and polygenic risk scores. Therefore, we are unable to accept referrals, either from clinicians or directly from patients, to interpret privately arranged genetic test results. Likewise, we are not in a position to offer advice on the management of pathogenic mutations that may contribute to conditions for which we do not routinely offer genetic testing.

If a patient or physician chooses to undertake genetic testing privately, we strongly recommend that they do so under the guidance of a Clinical Geneticist or Registered Genetic Counsellor. There are several who offer private services in the London area.

For national guidance regarding Direct to Consumer genetic testing please see the RCGP genomic position statement.

• Information for patients coming to the North East Thames Regional Genetics Service leaflet
• Download the North East Thames Regional Genetic Service Cancer Genetic Service form
• Download London Genetics Services Postcodes Map
• Download Cancer Genetics Referral Criteria
• Download Record of Discussion regarding R14 Rapid Exome Sequencing
• Read our information guide for health professionals on Neurofibromatosis Type 1 (Nf1)