For clinicians
Referrals
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
UHBristolClinicalGenetics@uhbw.nhs.uk
(within the Trust) or ubh-tr.clinicalgeneticsuhb@nhs.net
(via a secure nhs.net account), or by letter addressed to the
Clinical Genetics Service at:
Bristol Regional Clinical Genetics Service
Level B
St Michael's Hospital
Southwell Street
Bristol
BS2 8EG
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.
Exclusions
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.
