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Common referrals and information for patients & professionals

Please note 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.  We also have a patient information leaflet on DNA storage.

Non-healthcare professionals are not permitted to request genetic testing.


  • 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.

    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

    RM Partners West London Cancer Alliance provide a Lynch Syndrome online training module for primary care clinicians.

    Other cancer examples:

     

    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.

    Genetic testing for inherited breast and ovarian cancer (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.

    Genetic testing for inherited breast and ovarian cancer (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 Syndrome genetic testing (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 Syndrome genetic testing (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).

    Lynch Syndrome: should I take aspirin to reduce my chance of getting bowel cancer?

    A patient decision aid published by NICE to help support decisions around taking aspirin to reduce the risk of bowel cancer, in Lynch Syndrome.

    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 syndrome 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.

     

    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

    Code on Genetic Testing and Insurance | ABI

    Genetics FAQs | ABI

     

    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.

  • Rare disease

    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.

    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.

  • Miscellaneous conditions

    Please follow the links below for further information on referrals relating to these conditions:

    Malignant Hyperthermia

  • Patients who are UNlikely to benefit from a referral to Clinical Genetics

    Please see our section on patients who are UNlikely to benefit from a referral clinical genetics for more information.

    This list includes:

    • Alpha-1-antitrypsin deficiency
    • Cystic fibrosis, including carrier testing
    • Haemochromatosis
    • Fetal Alcohol Spectrum disorder (FASD)
    • MTHR related queries
    • Neural tube defects
    • Hypermobility spectrum disorder / EDS type 3
    • Isolated autism
    • Inherited cardiac disorders
    • Inherited haematological conditions
    • Direct to consumer (DTC) genetic testing
    • Couples who have had a previous pregnancy affected with Down syndrome, Edwards syndrome or Patau syndrome.