If you would like to refer a patient into our service, please email your referral letter.
Your referral must include:
- The patient's name, date of birth, NHS number and postcode
- For cancer referrals, please include any histology report(s)
- Any other background or further information about the patient is always useful.
Please contact us with any questions or for advice if required, you can find our referral criteria here.
Urgent referrals
Urgent referrals can be accepted just as a written email as long as all patient information (NHS number, name, date of birth, postcode, telephone number) is included in the email, but all routine referrals should include a formal letter (PDF/word format).
We aim to respond to urgent referrals in three to five working days.
Examples of urgent referrals include:
- Ongoing pregnancy
- Recent diagnosis of cancer where a genetic test result may impact on clinical decisions.
Who to refer
All new referrals are triaged by a member of the clinical team. If, after reading our referral criteria, you are unsure whether to refer please contact us.
Rare disease referral criteria
Please provide as much clinical and family history information as possible in your referral in order for us to triage the patient appropriately.
These referral criteria are a guide:
- Anyone in receipt of a ‘dear family member’ or ‘to whom it may concern’ letter from a Clinical Genetics service. Please include a copy of this letter with the referral.
- Anyone with a family history of Huntington Disease unless their parent has tested negative. Ideally please include the name and dob of an affected family member.
- Anyone with a family history of an autosomal dominant disorder in whose family a mutation is known. Ideally please include the name and dob of an affected family member.
- Please note it is very rare that it is possible to offer primary genetic testing in an unaffected individual where there is a family history of a genetic condition, but the causative genetic variant is unknown. In almost all circumstances we must test a known affected individual first.
- Conditions such as Neurofibromatosis type 1, in which a clear phenotype is visible on examination are suitable for referral even in the absence of a known genetic variant.
- We do not offer predictive testing in children for adult-onset disorders. Any child at 50% risk of an adult-onset disorder who is showing possible signs of the condition should be referred to the appropriate paediatric specialist (for example Paediatric Neurology in the case of Charcot Marie Tooth) for assessment and diagnostic testing if deemed suitable.
- Any pregnant woman with a known family history of a genetic disorder who wants to consider tests in pregnancy or immediately after birth. Even if a formal diagnosis has not yet been made in the affected individual, it may be possible to offer advice and testing.
- Anyone with an identified genetic variant causing their (or their child’s) condition, who wishes to discuss recurrence risks, familial testing and other subjects outside of the management of the diagnosis
- Anyone requiring genetic testing which is not available to the referrer (consult the Rare Disease Test Directory for further information)
- Individuals with a genomic variant whose significance is unclear, and whose genomic report recommends referral to clinical genetics for further assessment – please include a copy of that report
- Individuals with a complex genomic report or incidental finding, and whose genomic report recommends referral to clinical genetics for further assessment – please include a copy of that report
- A patient with multiple congenital anomalies and/or dysmorphic features a CGH-microarray result should first be obtained
- Any acutely ill child (on ICU/HDU) who is likely to have a genetic diagnosis, and in whom testing may alter treatment decisions.
Cancer referral criteria
Please provide a copy of the histology report(s) and as much clinical and family history information as possible in your referral in order for us to triage the patient appropriately.
Less than 10% of cancer is due to an inherited predisposition however many individuals have concerns about a family history of cancer. It is unlikely that familial cancer clusters are inherited if:
- Different cancer sites are involved.
- Cancers occur later in life.
- The cancers have strong environmental influence e.g smoking or UV light.
Guidelines for referrals for Breast Cancer, Ovarian Cancer, Breast and Ovarian Cancer, Colorectal Cancer and Other Cancers are listed below. The overall benefit of surveillance outside these guidelines has not been established. If you are unsure, please contact us for advice.
Please note that meeting referral criteria does not necessarily mean your patient will receive a genetic test. There may be opportunities for research for some patients not eligible for testing as for some we may be able to provide screening guidance.
We work to the national genomics test directory testing criteria which itself is subject to changes.
For further information, please see rare and inherited disease eligibility criteria for the Rare and inherited disease eligibility criteria.
Please note close relatives are mother, father, sibling, child, parent’s siblings or grandparents.
Please send a copy of the histology for your patient’s diagnosis along with their referral.
*Referrals may be processed without this, but not sending the histology for your patient may delay their appointment as it is vital to inform our patient care.
All patients from a family with a confirmed cancer predisposition syndrome should be referred with the name and date of birth of the relative with the familial pathogenic gene alteration, if possible.
Genetic testing is most informative in an individual with the type of cancer under investigation. If your patient has not had a cancer and no genetic testing has been performed in the family - please inform your patient that they may not be offered a genetic test.
Personal or family history of
The usual route for breast family history assessment should be though regional breast screening units who provide this service. If your patient meets testing criteria they will then be referred to us. If for any reason this cannot happen a direct referral to us can be done if the patient to be referred is affected by cancer and fulfils one of the below criteria OR is unaffected and has a close family history of:
- Breast cancer below 40
- Medullary/basal or triple negative under 60
- Bilateral disease, first cancer diagnosed under 50
- Male breast cancer, any age
- Two close relatives (including one first degree), average age below 50
- Three close relatives (including one first degree), average age under 60
- Four or more relatives with breast cancer on one side of the family.
The patient to be referred is affected by cancer and fulfils one of the below criteria/clusters OR is unaffected and has a close family history of:
- One ovarian cancer (papillary serous, epithelial origin). There is little benefit in referring unless there is a living affected relative if the patient is unaffected themselves.
- Two close relatives with ovarian cancer under 70
- Breast and Ovarian Cancer
- The patient is affected by or has a close family history of one of each tumour; both under the age of 70.
- Loss of proteins on mismatch repair immunohistochemistry (MMR IHC). If loss of MLH1 and PMS2, please first carry out MLH1 promoter hypermethylation studies and refer if not hypermethylated.
- Patient diagnosed with bowel cancer younger than 50 years
- Patient diagnosed with two Lynch syndrome related cancers* where one is either colorectal or endometrial cancer
- Patient diagnosed with bowel cancer and family reaches Amsterdam Criteria**
- Patient diagnosed with a non-colorectal Lynch syndrome-related cancer* younger than 50 years e.g. endometrial or ovarian cancer (MMR IHC testing to first be performed locally, if possible)
- Patient is unaffected with cancer but all affected family members are deceased, AND they have a first degree relative with bowel cancer younger than 30 years, OR they have two first degree relatives diagnosed with a Lynch syndrome-related cancer* younger than 60 years, OR family reaches Amsterdam Criteria**.
* Lynch-related cancers comprise: colorectal, endometrial, endocervical, ovarian, pancreatic, ureteric, transitional cell cancer of renal pelvis, gastric, hepatobiliary tract, small bowel, glioblastoma, pancreatic, prostate, multiple sebaceous adenomata, multiple sebaceous epitheliomas, multiple keratoacanthomas, and sebaceous carcinoma.
** Amsterdam Criteria: >3 closely related family members diagnosed with Lynch-related cancers over >2 generations with >1 case diagnosed <50 years.
- Patient diagnosed under 40 years: five or more adenomas
- Patient diagnosed under 60 years: 10 or more adenomas, or five or more adenomas with first degree relative with five or more adenomas younger than 60
- Patient diagnosed at any age: 20 or more adenomas, or bowel cancer at any age and five or more adenomas
- Patient has unusual types of polyps such as juvenile, Peutz-Jeghers or hamartomatous polyps
- Patient has clinical signs indicating potential diagnosis of Familial Adenomatous Polyposis e.g. FAP-related CHRPE.
The patient to be referred is affected by cancer and fulfils one of the below criteria/clusters OR is unaffected and has a close family history of:
- Multiple primary cancers in one individual
- Three or more relatives with cancers at the same site
- Three or more relatives with cancer at an earlier age than expected in the general population
- Three or more relatives with cancers of breast/ovary/prostate/ pancreas/ melanoma/thyroid/sarcoma/adrenal cortical tumours, or other non-melanoma skin tumours or carcinoma
- Renal cancer below 50, bilateral or multifocal renal cancer at any age, renal cancer and syndromic features please see test directory for more detail.
- Medullary thyroid cancer any age
- Phaeochromocytoma under 50, OR two relatives affected OR bilateral or metastatic
- Parathyroid carcinoma or familial hyperparathyroidism.
The overall benefit of surveillance outside these guidelines has not been established
Please note that meeting referral criteria does not necessarily mean your patient will receive a genetic test.
Who not to refer
- Patients who live outside of the Cheshire and Merseyside region – these will be forwarded to their local genetics service unless there is a specific reason (stated in the referral) why they should be seen at LCGM
- Cardiac disorders in adults – either affected or at risk – these referrals should be made to the Inherited Cardiac Conditions team at Liverpool Heart and Chest. This team includes Consultant Cardiologists, Consultant Clinical Geneticists and Genetic Counsellors, so genetic testing and cardiac screening can be offered as appropriate.
- Adults affected with likely genetic neurological disorders – these referrals should be made to Dr Jenny Higgs, Consultant in Clinical Genetics at Walton Hospital
- Haematological genetic disorders including haemoglobinopathies, clotting disorders, thrombotic disorders – these are looked after by Haematology departments, and a referral should be directed either to the Roald Dahl Service at the Royal Liverpool Hospital, or the Haematology service at Alder Hey Children’s Hospital. This includes carrier testing and prenatal testing.
- Individuals with a likely diagnosis of Hypermobility Syndrome (sometimes called Hypermobile Ehlers Danlos Syndrome) for further information on this condition and available resources (support is available at EDS UK)
- Patients in who there is a concern about Marfan syndrome should have an echocardiogram prior to referral to Genetics. If the echocardiogram is normal, be aware the chance of Marfan syndrome is low and a significant phenotype would be required for the referral to be accepted.
- Patients whose report recommends parental testing, please organise this yourself.
- Individuals with a family history of relatively common genetic conditions including Haemochromatosis, Alpha-one-antitrypsin deficiency, cystic fibrosis, whose testing should be performed by the GP.
- Individuals in possession of a Direct To Consumer (DTC) test report suggesting they may have a genetic disorder. Unless the personal and family history would satisfy the NHS testing criteria for the particular condition and/or the Genomics referral criteria, guidance is that the individual will need to consult a private geneticist for advice.
- Individuals with a personal or family history of Familial Hypercholesterolaemia. At present there is no specific FH service in Cheshire and Merseyside, but this is being established. In the meantime, the patient should be referred to your local lipid clinic for assessment.
- Referrals for genetic testing to confirm or investigate a clinical diagnosis made in secondary care, which the secondary care physician is permitted to arrange - consult the Rare Disease Test Directory for further information
- Children with autism, who are not dysmorphic and have no congenital anomalies – Paediatrics and Community paediatrics are able to request the appropriate genomic testing
- Children with a suspected diagnosis of Fetal Alcohol Spectrum Disorder. All children should be reviewed by a Consultant Community Paediatrician, and a CGH-microarray performed. Only those in whom there is concern about a possible diagnosis other than FASD should be referred to genetics for assessment.
