This page provides guidance on referring patients who have not had Breast or Ovarian Cancer but who have a relevant Family History, as well as providing guidance for patients who have had Breast or Ovarian Cancer and who may be eligible for genetic testing. Please see the relevant section below and under Referral Guidelines depending on the issue affecting your patient.
Patients who have a Family History of Breast and/or Ovarian Cancer but who have NOT had cancer
Patients must have at least one of the following 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 Breast and/or Ovarian 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 Breast Cancer diagnosed <40 years 1 first degree 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 1 first and 1 second degree relative with Breast Cancer diagnosed with an average age of diagnosis under 60, on the same side of the family 2 first or 1 first and 1 second degree relative with 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 seeking 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. |
| If there is a known Breast or Ovarian predisposition syndrome in the family (e.g., BRCA 1 patients can be referred for risk assessment / consideration of predictive genetic testing / risk management options. | |
Where possible, all family history referrals should be made via the self-referral 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.
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 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 of age.
Patients who have had Breast and/or Ovarian Cancer (for consideration of Genetic Testing)
Patients who have had Breast and/or Ovarian Cancer and who meet any of the following criteria can be referred via SCI Gateway for consideration of genetic testing:
- High grade serous Ovarian Cancer, any age
- Breast Cancer diagnosed <40 years
- Bilateral Breast Cancer, both diagnosed <60 years
- Triple negative Breast Cancer diagnosed <60 years
- Breast Cancer and Ovarian Cancer, any age
- Breast Cancer and 1 first degree relative with Breast Cancer, diagnosed for both <45 years
- Male Breast Cancer, any age
- Breast or Ovarian Cancer and a Family History of cancers suggestive of an inherited predisposition. (Please use the family history referral table above as a guide.)
Patients from communities with known population founder 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 more Jewish 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
J.B & S.H 01-11-23
Who to refer and How to refer:
Patients who have a Family History of Breast and/or Ovarian Cancer but who have NOT had 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:
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 pathogenic variant / genetic alternation in the family
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 with a personal cancer diagnosis 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 South East Scotland Genetic Service with PIL
