Patients may be eligible for genetic testing or additional screening if they have a family history of cancer or have had cancer themselves.
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 breast screening will be made by Clinical Genetics.
Please note that not all referrals will be allocated an appointment with Clinical Genetics.
Patients with cancers other than breast and ovarian cancer may be eligible for genetic testing if it has not already been completed as part of their treatment. Details of eligibility criteria are given in the Scottish Rare and Inherited Disease Test Directory below.
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.
Referral guidance
Patients who have not had cancer but report a family history of breast and/or ovarian cancer
Patients who have not had cancer but report a family history of cancer should be directed to complete our family history questionnaire (details below) if they meet any of the family history criteria detailed.
The patient should only be directed to the Family History Questionnaire, if you believe that the family history is significant.
Patients must have at least one of the following and all affected relatives must be on the same side of the family: –
| Number of relatives affected with breast / and or ovarian cancer | Family History |
| 1 relative | 1 first degree relative* with breast cancer diagnosed <40 years. 1 first or second degree relative* with male breast cancer diagnosed at any age. 1 first degree relative with breast and ovarian cancer 1 first degree relative with bilateral breast cancer < 60 years |
| 2 relatives | 2 first – or one first-and one second degree relative with breast cancer diagnosed under 60, or ovarian cancer at any age, on the same side of the family. |
| 3 or more relatives | 3 first-or second-degree relatives with breast or ovarian cancer on the same side of the family where one is a first -degree relative of the individual under review, or of their father. In breast/ovarian cancer families, women related through unaffected men are considered close relatives (i.e. a paternal family history may still be significant). A case of bilateral breast cancer should be treated as the equivalent of 2 affected relatives. |
*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 Breast Screening Programme from 50 years.
The questionnaire can be printed out for a patient, or you can send them the website link below.
Cancer family history questionnaire link
Patients directed to complete the family history questionnaire should return this to us 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 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.
Where possible, all family history referrals should be made via the family history questionnaire route. This is because cancer types and ages at diagnosis are often misreported, and the questionnaire allows the cancer genetics service to verify diagnoses where appropriate. If a referral regarding family history of cancer is received into the department without the questionnaire and a reason why has not been given, the referral will not be accepted.
It is important that patients are aware that they may not receive a Clinical Genetics appointment and may be referred directly for screening.
Patients who have had breast or ovarian cancer
Patients who have had breast and/or ovarian cancer AND who meet any of the following criteria can be referred for consideration of genetic testing.
· High grade serous ovarian cancer, any age
· Breast cancer <40 years
· Bilateral breast cancer, both <60 years
· Triple negative breast cancer <60 years
· Breast cancer + ovarian cancer, any age
· Breast cancer + 1 first degree relative with breast cancer, both under 45 years
· Male breast cancer, any age
· Breast or ovarian cancer and a family history with a Manchester score ≥15**
** The Manchester score is a scoring system that combines family history to assess for the likelihood of a pathogenic or likely pathogenic variant in the BRCA1 and BRCA2 genes. Further information can be found in this link to our training document for mainstreamed cancer panel testing.
For patients with a personal cancer diagnosis or patients with a known pathogenic variant/genetic alteration in the family
Referrals can be sent via:
· SCI Gateway: The pathway is: WESTERN GENERAL HOSPITAL – CLINICAL GENETICS – CLINICAL GENETICS
OR
· Email: Loth.WGHClinicalGenetics@nhs.scot
OR
· Post:
Referral Administration
SE Scotland Clinical Genetics Service
Western General Hospital
Crewe Road South
Edinburgh
EH4 2XU
Genetic testing for founder population variants
In some populations there is a higher than normal population frequency of specific variants in breast and ovarian cancer predisposition genes (BRCA1 and BRCA2). There are therefore instances where genetic testing may be undertaken for unaffected patients who do not meet the above referral criteria. Examples of this include patients with one or Westray born grandparents or patients from specific Scottish-Italian families. The role of founder population ancestry should be assessed by clinical genetics. If a patient enquires about genetic testing based on their ancestry and they do not meet normal referral criteria, please seek advice from the Duty Genetic Counsellor on 0131 537 1116 or email WGH.ClinicalGenetics@NHSLothian.scot.nhs.uk
Referrals can be sent via:
· SCI Gateway: The pathway is: WESTERN GENERAL HOSPITAL – CLINICAL GENETICS – CLINICAL GENETICS
OR
· Email: Loth.WGHClinicalGenetics@nhs.scot
OR
· Post:
Referral Administration
SE Scotland Clinical Genetics Service
Western General Hospital
Crewe Road South
Edinburgh
EH4 2XU
Patients with a known pathogenic variant in the family
If a likely pathogenic or pathogenic variant in a known cancer predisposition gene e.g. BRCA1, has already been identified in a family member, these patients should be referred directly to Clinical Genetics with the name and date of birth of the relative, the gene in which the variant has been identified and where they were tested.
If your patient has been given a letter from a Genetics service and/or a test report from a relative, it is extremely useful if a copy of this is attached to the referral.
Referrals can be sent via:
· SCI Gateway: The pathway is: WESTERN GENERAL HOSPITAL – CLINICAL GENETICS – CLINICAL GENETICS
OR
· Email: Loth.WGHClinicalGenetics@nhs.scot
OR
· Post:
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 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 and the resources below may be helpful for patients:
Useful links
Home – Scottish Cancer Prevention Network (cancerpreventionscotland.org.uk)
Can cancer be prevented? | How to reduce your risk of cancer (cancerresearchuk.org)
