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Common referrals and information for patients & professionals

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.
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:

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

Other cancer examples:
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.

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.
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.

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