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For clinicians


If you are a patient looking to get in contact with the Clinical Genetics service please call the numbers provided on the 'Our Team' page to contact the staff member or team you require. 

Information for clinicians:

GP's should make routine referrals to the Clinical Genetics Service through the ERS system.

Routine secondary care referrals can be made by secure email to (within the Trust) or (via a secure account), or by letter addressed to the Clinical Genetics Service at:

Bristol Regional Clinical Genetics Service
Level B
St Michael's Hospital
Southwell Street

Where applicable and to provide accurate advice for your patient, please provide details of any relatives affected with a genetic condition, including their names. 

Urgent referrals

The Clinical Genetics Service provides a service for urgent referrals and advice. This is available Monday - Friday, 9am - 5pm.

Antenatal referrals

  • To provide accurate advice for your patient, please provide details of any relatives affected with a genetic condition or who have had genetic testing, including their names.  Please also detail what the patient's objectives are for the referral.
  • If you have any questions about whether an antenatal referral is appropriate for your patient or have any other antenatal genetic-related queries, please contact us and ask to speak with the on-call Genetic Counsellor.

PICU/NICU referrals

  • For urgent enquiries please contact us and ask to speak to the On-Call Consultant. It will not always be possible to speak to the doctor on-call straight away, but a call back will be made as soon as possible. 

Any other urgent referrals

  • For any other referral that you deem urgent, please refer using the standard referrals pathway but ensure the referral is marked as urgent. 
  • If you have any questions about an urgent referral please call and ask to speak with the on-call Consultant or Genetic Counsellor on 0117 3425107

Cancer Genetics referrals

Patients referred with a personal and/or family history of cancer will be triaged for one of the following:

  • A family history questionnaire will be sent to the patient to gather more information and confirm cancer diagnoses in the family to inform risk assessment.
  • The patient will be added to our waiting list for an appointment with a genetic counsellor or consultant.
  • If the patient is deemed not to be at significantly increased risk of cancer, a letter will be written to the referring clinician and they will not be offered an appointment.

If genetic testing has already taken place in the family, please provide details of any relevant relatives, including their names.

For unaffected individuals genetic testing for cancer usually requires the identification of a genetic change in an affected family member, so it may be more appropriate for an affected family member to be seen and assessed first by their local genetics department.

Rapid Access Cancer Clinic (RACC)

We have the RACC as a dedicated clinic to see certain patients with cancer as a priority. This includes:

  • Patients with breast cancer who fulfil the eligibility criteria where there is a decision to be made regarding surgery soon.
  • Patients with non mucinous ovarian cancer
  • Patients with life limiting diagnosis for DNA storage (prior to normal triage),

Please refer using the standard referrals pathway but make it clear in the referral why it is prioritised, and consider storing blood DNA at the time of referral.

You can download the DNA banking consent form, information leaflet, as well as information for clinicians here. Genetics request forms for the Bristol Genetics Laboratory can be accessed here


The Clinical Genetics service receives a high volume of referrals some of which can be appropriately managed in primary or secondary care. We are only able to offer appointments to those within our referral criteria.

Referrals for the following conditions are not being accepted:

  • Hypermobility unless additional features or a genetic mutation has been identified in the family. Further information can be found here.
  • Haemochromatosis. Testing can be done in primary care and consider referral to haematology/hepatology as appropriate. Please see our pathway document for further information.
  • Familial Hyperlipidaemia. Referrals and queries should be made to the FH Specialist Service.
  • Suxamethonium sensitivity.
  • MTHFR variants.
  • Discussion of results of private genetic testing, except in instances where evidence that the variants are pathogenic is provided.
  • Couples requesting carrier testing for reproductive purposes in which the population carrier frequency is less common than 1/70, or where there are no known common variants.
  • Relatives of patients with genetic cardiac conditions requiring heart checks should be referred to the local Inherited Cardiac Conditions team at the Bristol Heart Institute or to their local cardiologist (ideally with a specialist interest in inherited cardiac conditions) in the first instance. Please only refer to Clinical Genetics if a genetic alteration has been identified in a relative, and please provide that information with the referral.

Genetic Testing

NHS England is implementing a Genomic Medicine Service (GMS), involving collaborative working between clinical services including Clinical Genetics, laboratories and Genomics England. This includes the introduction of a National Genomic Test Directory, which specifies the genetic and genomic tests that are commissioned by NHS England for patients with rare diseases and cancers. You can find out more about the available tests and eligibility criteria on the Test Directory website.

Testing will be delivered through a network of seven Genomic Laboratory Hubs (GLHs). In our region, this is delivered by the South West Genomic Laboratory Hub (SW GLH). If you have questions about what testing may be appropriate for your patient, you may wish to discuss with the SW GLH and/or consider referral to our service.