Cancer referrals
Below we provide some examples of patients who may benefit from a referral to Clinical Genetics. This list in not exhaustive, and please feel free to contact us to discuss a referral if in doubt.
- Please note, we are also happy to be referred patients who have a historical cancer diagnosis and/or were seen by Clinical Genetics many years ago, as testing criteria and capabilities have changed over time.
- A rapid access pathway has been developed for patients who are palliative. Please ensure that the patient’s diagnosis and the prognosis are stated clearly on the referral form so that the referral can be triaged appropriately. For palliative patients, it is advisable to send DNA for storage at the time of the referral. Click here for the test request form.
Non-healthcare professionals are not permitted to request genetic testing.
Who to refer
Breast and ovarian cancer
In general, unaffected woman with a family history of breast cancer are best managed at their local family history breast clinic (locations at Belfast City Hospital, Antrim Area Hospital, Altnagelvin Hospital, Craigavon Area Hospital and the Ulster Hospital).
For guidance on which women are likely to benefit from a referral to their local family history breast clinic please see: The NICE guidance.
We are particularly keen to see the following patients who are likely to be eligible for genetic testing:
- Breast cancer <30 years
- Triple positive breast cancer ≤ 35 years
- Triple negative breast cancer <60 years
- Bilateral Breast cancer <50 years
- Male breast cancer (any age)
- High-grade non mucinous epithelial ovarian cancer at any age
- Breast cancer with pathology adjusted Manchester score ≥15
- Ashkenazi Jewish ancestry and breast cancer at any age
- An individual at risk of inheriting a known familial genetic variant, these individuals may be eligible for self-referral.
- For cases which do not clearly meet the above testing criteria, but where family history is highly suspicious, we will consider undertaking a CanRisk assessment to guide decisions about testing.
Colorectal cancer
We are particularly keen to see the following patients who are likely to be eligible for genetic testing:
- The affected patient has tumour test results (e.g. IHC, MSI and BRAF or MLH1 hypermethylation) suggestive of Lynch syndrome. Click here for MSI and BRAF information leaflet.
- Colorectal cancer <40 years
- Personal/family history of colorectal, endometrial or other* cancers reaching Amsterdam Criteria (≥3 cases over ≥2 generations with ≥1 case affected at <50).
- *other Lynch related cancers include: epithelial ovarian cancer, ureteric cancer, small bowel cancer, transitional cell cancer of renal pelvis, cholangiocarcinoma, glioblastoma, endocervical cancer and multiple sebaceous tumours.
- Multiple gastrointestinal polyps (e.g. ≥10 at age <60 years, or ≥20 at age >60 years)
- An individual at risk of inheriting a known familial genetic variant, these individuals may be eligible for self-referral.
For useful information on the management of hereditary colorectal cancer from the British Society of Gastroeterology (BSG) please see: Guidelines for the management of hereditary colorectal cancer from the BSG /ACPGBI/UKCGG – The British Society of Gastroenterology
RM Partners West London Cancer Alliance provide a Lynch Syndrome online training module for primary care clinicians.
Other cancer examples:
- Please see specific testing criteria in the NHS England » National genomic test directory . Please be aware that the NGTD is not a complete reflection of testing criteria and availability in Northern Ireland.
Mainstreaming cancer genetics
Increasingly, genetic testing is undertaken by non-genetic specialists who are experienced in managing patients with hereditary cancer syndromes (e.g. Surgeons and Oncologists). This is in line with other Clinical Genetics services.
If testing identifies a causative variant, patients are offered an appointment with Clinical Genetics. A referral to Clinical Genetics is also welcome in advance of mainstream testing if the patient feels that they have additional questions.
Please see our NEW SECTION on mainstreaming for breast cancer.
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Patient cancer information leaflets
In this context, diagnostic genetic testing refers to genetic testing in individuals who are, or have been, affected by cancer. Predictive genetic testing refers to testing unaffected individuals for a known genetic variant in the family, which predisposes to the development of cancer.
BRCA predictive leaflet
This information leaflet is aimed at individuals who are considering genetic testing for a known genetic variant in the family in BRCA1, BRCA2 and related genes.
BRCA diagnostic leaflet
This information leaflet is aimed at individuals who have had a diagnosis of cancer, and are considering genetic testing of BRCA1, BRCA2 and related genes.
Lynch predictive leaflet
This information leaflet is aimed at individuals who are considering genetic testing for a known genetic variant in the family in Lynch Syndrome genes (MLH1, MSH2, MSH6, PMS2 and EPCAM).
Lynch diagnostic leaflet
This information leaflet is aimed at individuals who have had a diagnosis of cancer, and are considering genetic testing of Lynch Syndrome genes (MLH1, MSH2, MSH6, PMS2 and EPCAM).
MSI and BRAF information leaflet
This information leaflet is aimed at health professionals who are interpreting the results of tumor studies.
UKCGG
The UK Cancer Genetics Group provide useful information leaflets on a number of cancer predisposition genes, including BRCA1/2, PALB2, BRIP1, FLCN, FH, RAD51C/D, PTEN, lynch syndrom,e and chemoprevention in moderate and high-risk women. These leaflets are aimed at health professionals, but they provide information which patients may also find helpful.
eviQ
EviQ is an Australian resource which provides a wide range of information leaflets on cancer predisposition genes and disorders including ATM, BRCA1/2, BRIP1, CDH1, CDKN2A, CHEK2, Lynch Syndrome, Gorlin Syndrome, RAD51C/D, SDHx, TP53, BAP1, Birt-Hogg-Dube Syndrome, PTEN, DICER1, Familial Adenomatous Polyposis, HLRCC, HPT-JT, Juvenile Polyposis Syndrome, MEN1/2, NF1/2, Peutz-Jeghers syndrome, Serrated Polyposis syndrome and VHL.
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Cancer genetic testing and insurance
For information on cancer genetic testing and insurance implications, please see information provided by Genetic Alliance and the Association of British Insurers.
Insurance, family history and genetic testing | Genetic Alliance UK
Rare disease and other referrals
Below we provide some examples of patients who may benefit from a referral to Clinical Genetics. This list in not exhaustive and please feel free to contact us to discuss if in doubt.
- Please note, a rapid access pathway has been developed for patients who are palliative. Please ensure that the patient’s diagnosis and prognosis are stated clearly are on the referral form so that the referral can be triaged appropriately. For palliative patients, it is advisable to send DNA for storage at the time of the referral. Click here for the test request form.
Non-healthcare professionals are not permitted to request genetic testing.
Who to refer
- Children with developmental delay and/ or learning difficulties who have additional features (e.g. dysmorphic features, congenital anomalies)*
- Children with multiple congenital anomalies*
- Undiagnosed adults with learning difficulties*
- Parents with ≥2 similarly ‘affected’ children
- The patient has raised a concern about a specific genetic diagnosis
- Individuals affected with a rare disease, who have multiple relatives affected with the same, or a related, disorder.
*In these circumstances, please consider sending a chromosome analysis by microarray prior to, or at the same time as the referral. Click here for the test request form.
Non-healthcare professionals are not permitted to request genetic testing.