Patients who have not had cancer but report a family history of cancer should self-refer using our family history questionnaire (details below) if they meet any of the family history criteria detailed.
Referrals are triaged by the Clinical Genetics team. Depending on the family history an assessment may be completed by letter or 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.
Patients who have a family history but no personal history of colorectal cancer
The patient being referred must have an immediate affected relative and all affected relatives must be on the same side of the family.
Patients who have not had cancer and who meet the criteria, should self-refer using our Family History questionnaire (details below) if they meet any of the Family History criteria detailed.
| Number of relatives affected with colorectal cancer | Family History First degree relatives: parent, sibling, child Second degree relatives: grandparent, aunt/uncle, grandchild, niece/nephew |
|---|---|
| 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 in first degree kinship 1 first degree & 1 second degree relative (in a first degree kinship) diagnosed with CRC at any age |
| 3 or more relatives | 3 affected first degree relatives (in a first degree kinship) with colorectal cancer diagnosed at any age |
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 with a known colorectal cancer predisposition syndrome in the family but no personal history of colorectal cancer
If there is a known colorectal cancer predisposition 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 risk assessment/consideration of predictive genetic testing/risk management options.
Patients who have had colorectal cancer AND who meet any of the following criteria (for consideration of genetic testing)
- Diagnosed CRC < 45yrs (irrespective of MMR status of tumour)
- Diagnosed with CRC/Lynch-related cancer* any age & family history meets modified Amsterdam criteria** (irrespective of the MMR status of the tumour)
- Diagnosed with dMMR tumour <70 yrs where results of IHC, BRAF &/or MLH1 hypermethylation testing suggest LS
- Has had another primary Lynch Syndrome associated cancer* (double primary)
- You suspect patient may be clinically affected with a known syndrome e.g., PJS, JPS, SPS, FAP
- Diagnosed with colorectal cancer <60yrs with ≥5 polyps
- Patient with cancer and Wimmer score > 3
- Scoring system for Constitutional Mismatch Repair Deficiency syndrome (CMMRD)
- Distinct childhood cancer predisposition syndrome: GI, brain, haematological
*Lynch-related cancers include but are not restricted to: Colorectal, Endometrial, Endocervical, Epithelial ovarian, Urothelial (urethra, bladder TCC, ureters, renal pelvis), Pancreatic, Bile duct (cholangiocarcinoma), Prostate, Small bowel, Brain (Glioblastoma), Skin (Multiple sebaceous tumours)
** ≥ 3 cases of Lynch-related cancer over ≥2 generations with ≥1 case diagnosed ≤50 years
Patients who have had colorectal polyps AND who meet any of the following criteria (for consideration of genetic testing)
≥5 adenomatous polyps & colorectal cancer (<60 yrs) OR
≥5 adenomatous polyps (age <40 yrs), OR
≥10 adenomatous polyps (age <60 yrs), OR
≥20 adenomatous polyps (age ≥ 60 years), OR
≥5 adenomatous polyps (age <60 yrs) AND first degree relative with ≥5 adenomatous polyps OR CRC (age <60 yrs), OR
≥10 adenomatous polyps (age ≥ 60 yrs) AND first degree relative with ≥5 adenomatous polyps OR CRC (age <60 yrs)
Meets WHO diagnostic criteria for Serrated Polyposis Syndrome
Suspect patient may be clinically affected with a known syndrome e.g., PJS, JPS, SPS, FAP
Small hyperplastic rectal polyps should not be included in the count & polyps should be histologically confirmed where possible.
Testing may be considered for unusual/large polyps occurring at a young age
Scottish Genetic test directory
The current eligibility criteria for genetic testing for patients who have had CRC and/or multiple polyps can be checked in the Scottish SSNGM Rare & Inherited Disease Test directory (Hereditary Colorectal Cancer, Polyposis and Lynch Syndrome section):
https://www.nss.nhs.scot/publications/ssngm-rare-and-inherited-disease-test-directory/
J.B & S.H 01-11-23
Who to refer and How to refer:
Patients who have a family history but no personal history of colorectal cancer, meeting the criteria detailed above
Patients who have not had cancer but report a significant family history of cancer should self-refer using the family history questionnaire (FHQ). The patient should only be directed to the Family History Questionnaire, if you believe that the family history is significant. The questionnaire can be printed out for a patient, or they can be sent the website link:
LINK TO WEBSITE TO DOWLOAD FHQ
Text for copying to send to patients (e.g., to copy in a letter or text message) for FHQ:
https://services.nhslothian.scot/geneticservice/wp-content/uploads/sites/54/2023/10/FHQ-draft-3.pdf
Patients should return this to Clinical Genetics directly to initiate a referral. They must complete the first section which asks which service/healthcare professional referred them to this questionnaire. The questionnaire is an editable PDF and by clicking submit at the end of the questionnaire, this should attach to an email to be sent directly by the patient.
Alternatively, patients can attach it to an email manually and send this to: WGH.ClinicalGenetics@nhslothian.scot.nhs.uk
Or patients can print out the questionnaire and post it to:
Referral Administration
SE Scotland Clinical Genetics Service
Western General Hospital, Crewe Road South, Edinburgh, EH4 2XU
Patients can drop the completed FHQ directly to their GP surgery who can return it to Clinical Genetics Department if this agreement has been made by their GP practice.
What if my patient can’t complete the questionnaire?
If you think that the family history is significant, but you do not think your patient is able to complete the questionnaire (for example due to learning difficulties or if they cannot read/write English) please refer them directly stating as much family history as possible and your reason for not giving them the family history questionnaire. In these exceptional cases, then please submit the referral via SCI Gateway.
Patients with a known colorectal cancer predisposition syndrome in the family but no personal history of colorectal cancer
Referrals can be sent via:
- SCI Gateway
WESTERN GENERAL HOSPITAL >> CLINICAL GENETICS >> LI CLINICAL GENETICS
OR
WGH.ClinicalGenetics@nhslothian.scot.nhs.uk
OR
- Post / internal mail
Referral Administration
SE Scotland Clinical Genetics Service
Western General Hospital, Crewe Road South, Edinburgh EH4 2XU
Patients who have had colorectal cancer meeting the criteria above, OR Patients who have had colorectal polyps meeting the criteria above who have not already had genetic testing undertaken as part of their cancer treatment, can be referred directly to Clinical Genetics
Referrals can be sent via:
- SCI Gateway
WESTERN GENERAL HOSPITAL >> CLINICAL GENETICS >> LI CLINICAL GENETICS
OR
WGH.ClinicalGenetics@nhslothian.scot.nhs.uk
OR
- Post / internal mail
Referral Administration
SE Scotland Clinical Genetics Service
Western General Hospital, Crewe Road South, Edinburgh EH4 2XU
Who not to refer:
Any patients that do not meet referral criteria. These patients will likely have a risk of cancer similar to the general population. Please reassure these patients that they do not have a significantly increased risk of cancer. For these patients, the most effective way to reduce the risk of cancer is to lead a healthy lifestyle. There are resources listed under Resources and Links that may be helpful for patients:
A patient’s risk assessment may change if there is a new diagnosis of cancer in the family in future. If this is the case, where appropriate they can be advised to return for further assessment.
Cancer Prevention
- Home – Scottish Cancer Prevention Network (cancerpreventionscotland.org.uk)
- Healthy living | NHS inform
- Can cancer be prevented? | How to reduce your risk of cancer (cancerresearchuk.org)
- Get Checked Early
- Causes and risk factors | Macmillan Cancer Support
- CoppaFeel! | Check Your Chest | Breast Cancer Awareness
Genetic Testing
- https://www.nss.nhs.scot/publications/ssngm-rare-and-inherited-disease-test-directory/
- Scottish Rare and Inherited Disease Test Directory – Scottish Strategic Network for Genomic Medicine (nhs.scot)
South East Scotland Clinical Genetics Website, with Patient Information Leaflets
