Asymptomatic patients should be referred to Clinical Genetics for assessment of family history and eligibility for screening and/or genetic testing.
Referrals are triaged by the Clinical Genetics team. Depending on the family history an assessment may be completed by letter or by sending the patient a family history questionnaire (if further information is required) or by appointment.
If appropriate, a referral for colonoscopy screening will be made by Clinical Genetics.
Please note that not all referrals will be allocated an appointment with Clinical Genetics.
Who to Refer
When making a referral, please include as much information as possible about the:
- Type of cancer
- Relationship of any affected relatives to the patient being referred
- Name(s) of affected relative(s); especially those previously seen in the genetics clinic
- Age(s) at diagnosis of affected relative(s)
Patients who have a family history but no personal history of colon cancer
The patient being referred must have an immediate affected relative.
All affected relatives must be on the same side of the family.
They must have at least one of the following:-
| Number of relatives affected with cancer | Family History |
| 1 relative | 1 first degree relative* with colorectal cancer diagnosed <50 years |
| 2 relatives | 2 first degree relatives with colorectal cancer diagnosed at any age 1 first and one second degree relatives (in first degree kinship) diagnosed at any age (e.g. mother and maternal uncle / father and paternal grandfather) |
| 3 or more relatives | 3 affected FDRs (in a first degree kinship) with CRC diagnosed at any age |
| If there is a known colorectal cancer syndrome in the family e.g. Lynch syndrome (HNPCC), Familial Adenomatous Polyposis (FAP), MYH Associated Polyposis (MAP), Peutz-Jeghers (PJS) patients can be referred for discussion of predictive testing and management options. | |
*First degree relatives: parent, sibling, child
Second degree relatives: grandparent, aunt/uncle, grandchild, niece/nephew
Patients with a family history that does not meet any of the above criteria are considered low risk and are eligible for the National Bowel Screening Programme from 50 years.
Patients who have had colorectal cancer – for consideration of genetic testing
Patients who have had colorectal cancer AND who meet any of the following criteria may be eligible for genetic testing:-
- Colon cancer was diagnosed <50 years
- Has had another primary Lynch Syndrome associated cancer+ (double primary)
- Immunohistochemistry (IHC) of colon tumour shows loss of staining of mismatch repair protein(s) [should be referred for consideration of germline genetic testing]
- Has a family history of colon or other Lynch syndrome cancers*
*Lynch syndrome associated cancers include:
colon and rectal cancer, endometrial cancer, small intestine cancer, hepato-biliary and pancreatic cancer (MSH2 & MLH1), gastric cancer, ovarian non-serous cancer, renal pelvis and ureter cancer, bladder cancer, sebaceous gland cancer, prostate cancer, breast cancer, central nervous system cancer.
How to Refer
Please send referrals electronically
SCI-Gateway
WGH.ClinicalGenetics@nhslothian.scot.nhs.uk
or by post to
Referral Administration
SE Scotland Clinical Genetics Service
Western General Hospital
Crewe Road South
Edinburgh
EH4 2XU
If you wish to discuss a referral please call 0131 537 1116 and ask for the Duty Staff, alternatively email WGH.ClinicalGenetics@nhslothian.scot.nhs.uk
National Guidelines
Diagnosis and management of colorectal cancer
Information Leaflets
Other Support Information
Colon Cancer Symptoms: Bowel Cancer UK
Family History of Bowel Cancer: Bowel Cancer UK
