Clinical Genetics referrals

How to refer a family

Please refer to us in writing. For urgent advice, please contact us directly.

GPs and hospital consultants should refer to the Genetic Consultant team with a referral letter summarising the reason for the referral.

If the referral is accepted, we will send your patient a link to an electronic form, for them to upload details of their family history.

If a relative has had genetic testing and a harmful gene alteration is known in a relative, please send us a copy of the relatives genetic report with the referral, if available.

Alternatively, please include details of the name of their relative who has previously had a genetic test, and which genetic centre, or where in the country, they were treated.

GP referrals should be sent via ERS.

Secondary care referrals should be via EPR or emailed.

Email: clinical.genetics@ouh.nhs.uk

Referrals to the Cancer Clinical Genetics Service

Clinical Genetics is separate from the Genomic Laboratory. Requesting a genetic test or sending a sample to the laboratory does not create a referral to our service; if Clinical Genetics input is needed, please refer to us directly.

How to refer

Step 1

Check the Cancer Genetics Referral Criteria and explain in the referral letter how the patient meets them:

Cancer Genetics Referral Criteria (pdf, 285 KB)

Where possible, refer the person with cancer first - this gives the most informative assessment of genetic testing eligibility and cancer risk for relatives.

Step 2

Complete the Cancer Genetics Referral Proforma (this proforma is for cancer genetics referrals only).

Cancer Genetics Referral Proforma (Word, 87 KB)

If a close relative has previously been referred to us, include the family genetic case number, or, if the number is not known, the relative's name and relationship.

Step 3

Secondary care referrals

Submit the referral letter, completed proforma and any relevant histology or other reports via email: clinical.genetics@ouh.nhs.uk

GP referrals

Submit via ERS.

What happens next

Step 1

If accepted, we will send the patient an electronic family history questionnaire - please do not send paper questionnaires.

Referrals may be returned if they do not clearly meet the referral criteria, are outside the scope of the service, or do not include enough information for triage.

Step 2

The Clinical Genetics team will review the referral and family history information. The patient may then receive advice and screening recommendations by letter, or be offered an appointment with a Genetic Counsellor or Clinical Geneticist.

Not all patients offered an appointment require genetic testing.

If you have a query about storing DNA from a critically ill patient, please contact us.

For queries about mainstream genetic test result timings, please contact the laboratory.

Email: dutyscientist.oxfordgenetics@ouh.nhs.uk

Array referrals

When you refer a child for assessment of an array abnormality, please supply recent clinical correspondence about the child.

Please check if you are being asked to take a repeat blood sample from the child. We will arrange parental blood samples. Please supply their details with your referral letter.

Referral to the Department of Clinical Genetics for Array CGH results with a copy number variant (pdf, 263 KB)

General referrals

If you are referring a patient for testing for a known genetic condition in the family, please supply as much information as possible about the affected individual.

Urgent referrals

For urgent advice, (e.g. during pregnancy or ward referrals) please contact us directly.

We run an 'on-call' service so that urgent families can be seen within a few days. This will usually be in Oxford, but it may be possible to see people in our peripheral clinics, nearer to where a family lives.

We do not accept referrals for Hypercholesterolemia or Hyperlipidaemia. Please refer to Prof Karpe's Lipid Clinic in OCDEM.

Interpreters

It is possible to arrange the services of a professional interpreter for many languages including British Sign Language. Please let us know in your referral letter if you require this service for your patient.

Where the family can be seen

General and cancer genetic clinics are held on a regular basis in Oxford hospitals (Churchill, John Radcliffe, Eye Hospital, Nuffield Orthopaedic Centre) and at hospitals throughout the region.

We cover:

Oxfordshire
Berkshire
Buckinghamshire
Wiltshire.

We aim to run clinics near where patients live. Many of these clinics are held monthly. Initially we aim to see patients in the clinic nearest to their home; at times we may book them into another clinic to avoid delay in seeing them.

If you would like your patient to see a particular clinician (because of a known specialist interest) please make this clear in the referral letter. It is more likely that the patient will be offered an appointment in Oxford in this instance.

When to offer a family a genetics appointment

The most appropriate time for offering and giving genetic information will vary from family to family. This may be when the family is ready to take decisions about the future, when a diagnosis is needed or when advice is needed for a pregnancy.

It is best if the referral can be made before a pregnancy is planned, as other family members may need to be examined, or specialised tests performed. Some carrier detection tests are not accurate during pregnancy.

Training opportunities

Formal training opportunities are available within the Clinical Genetics Department for Genetic Counselling students and Specialist Registrars.