Making a referral to Medical Genetics is different to making a referral for genetic testing. An assessment by Medical Genetics will require a formal referral to our service. For guidance on who is eligible for a Medical Genetics referral and how to refer, please see below.
ThemeNational Genomic Test Directory (opens in a new tab).
The Directory provides the eligibility criteria for genetic testing within NHS England. Our Medical Genetics service works alongside the East Genomics Laboratory Hub and their sampling and consent forms can be downloaded here.
Sending a sample for genetic testing will not result in an automatic referral to the Medical Genetics service. This will need to be made independently if required.
Referrals to the Medical Genetics service can be emailed as an attachment to add-tr.referralsclinicalgenetics@nhs.net, or sent by post to:
Clinical Genetics, Box 134, Addenbrooke’s Hospital, Cambridge, CB2 0QQ
Referrals into the clinical cancer genetics service are indicated for:
- Patients likely to be at increased risk of developing cancer due to their personal and/or family history in close relatives (parents, siblings, children). Where possible, it is best to refer a relative who has been affected with cancer in the first instance, rather than their unaffected relatives.
- Patients meeting National Genomic Test Directory Criteria for inherited cancer genetic testing
- Patients who have a likely pathogenic or pathogenic variant (mutation) in a cancer predisposition gene or a diagnosis of a cancer predisposition syndrome.
- Patients with a relative who has a likely pathogenic or pathogenic variant in a cancer predisposition gene or have a diagnosis of a cancer predisposition syndrome.
General guidance
Not all referred individuals will be eligible for extra surveillance or genetic testing.
Some will receive an advice letter from our cancer genetics service whether or not they are invited to a clinic appointment. These guidelines are not exhaustive and health professionals can seek advice from our cancer genetics service about whether a referral is appropriate.
Please telephone 01223 216446 (9am - 5pm Mon-Fri) and ask for the on-call team, or email queries to add-tr.clinicalgenetics@nhs.net.
If your query is urgent, you can ask the Addenbrooke’s Hospital switchboard to connect you to the on-call genetics team mobile numbers during these hours.
Investigations for results from tumour testing
For cancer patients who have a gene variant identified in their tumour which may be hereditary (i.e. also in their non-tumour germline DNA), confirmatory testing can be offered.
We can support cancer teams to do this and assess if a Medical Genetics referral is indicated. Alternatively, a referral can be made to the Medical Genetics Service with a copy of the tumour genetic test results for review as to whether confirmatory testing is needed.
Key referral indications for some of the more common cancer types
Please also see the National Genomic Test Directory Criteria.
*Eligible for mainstream genetic testing according to the National Genomic Test Directory Criteria
Find sampling and consent forms here.
For clinical support in arranging mainstream genetic testing within cancer teams, please contact the on-call genetics team (see details in ‘General guidance’, above).
For help with genomic risk assessment and referral guidance, QGenome (available via the Clinibee app (opens in a new tab)) provides information in an accessible and user-friendly format.