Information for professionals - Genetics

We provide genetic counselling across the West Midlands, through a combination of virtual and face-to-face clinics, depending on clinical needs. This is provided by Consultant Clinical Geneticists and Genetic Counsellors. Find out more about the team.

We see patients for diagnostic, predictive (pre-symptomatic), confirmatory and carrier testing. We offer preconception counselling, prenatal counselling and assessment for hereditary disorders and congenital defects affecting foetuses, newborns, children and adults. Assessing risk and/or identifying a genetic diagnosis can personalise management and therapy options and offer reproductive choices to individuals wishing to start a family.

Diagnostic testing is when patients have symptoms of a possible genetic condition and testing is requested to look for the specific genetic variant causing their condition. The National Genomic Test Directory means many diagnostic tests can now be requested by clinicians in various specialities (mainstreaming of genetic testing). You will find the document ‘Rare and inherited disease eligibility criteria’ most useful to establish the appropriate test for your patient and whether you can request this. You may then wish to use the PanelApp Genomics England website if you wish to check what genes are on the panel. We are always happy to provide advice and answer questions (and provide teaching) regarding such testing or you can refer patients to us but please note this will delay their results.

Predictive (or pre-symptomatic) testing is to look for a previously identified genetic variant in the family before the patient has symptoms of the condition (i.e. they may or may not have inherited the condition). It is essential that patients having predictive testing are prepared emotionally, and that they have appropriate support in place for results both negative and positive. All predictive testing would be expected to be undertaken by the Clinical Genetics team. As such, we would encourage clinicians to refer such patients to us, and how to do this is described below.

Confirmatory genetic testing is appropriate when a patient has a diagnosis of a condition and there is a known genetic mutation in the family. It is possible to offer testing for just the familial mutation (as we would for a predictive genetic test). This is often significantly quicker (and less expensive) than offering a diagnostic genetic test. If your patient reports a family history of the condition and thinks a relative has had testing you are welcome to contact us at genetics.info@nhs.net and we can check our records to advise if a confirmatory genetic test is appropriate. We may request that you refer the patient to us.

Clinic Locations

We are based at Birmingham Women’s Hospital. We can accept referrals from across the West Midlands. The diagram below shows the areas we cover.

We also provide a number of specialist clinics at various locations covering a wide range of conditions. Please contact the department if you have a question about these specialist clinics.

Hypermobile Ehlers-Danlos Syndrome

If you have an urgent referral, which fits into one of the below categories, please use the relevant form. We are always happy to provide advice if you have any questions about an urgent referral.

Prenatal Genetic Testing/Counselling

If a patient is currently pregnant, please complete this Prenatal urgent referral form. Please send the completed form to bwc.prenatalreferrals@nhs.net. 

Some patients will be eligible for rapid exome testing during pregnancy (R21 Test Request form for Rapid Exome Sequencing). If you have a referral or query regarding R21 testing please email bwc.prenatalreferrals@nhs.net and clearly indicate your R21 query in the subject line. You do not need to complete the referral form.

Neonatal/Paediatric Patients Eligible for Rapid Exome Testing (R14):

As per the National Genomic Test Directory indication R14, rapid genome sequencing can be requested by a paediatrician, once the testing is approved by a Clinical Geneticist. The Pathway for R14 Referrals.

Eligible patients are babies and children with a potentially monogenic (single gene) disorder as a potential cause of being unwell, and where a rapid diagnosis is speculated to have a direct impact on the management of the patient. This is a wide spectrum, but examples include epileptic encephalopathy, neuro-metabolic or neuro-muscular presentations, developmental regression, and multiple congenital anomalies needing acute management or ventilatory support. If in doubt, discuss with the on-call Clinical Geneticist via the genetics.info@nhs.net email address.

BCH Clinicians to use the link http://valentin/requests/ on PEPR/Clinical Genetics/Urgent Referral Form. (The form will be automatically saved on PEPR in the patient folder) E-mail from a BCH clinician will arrive to genetics.info@nhs.net

The referral pathway for the West Midlands, including information on sample bottles and forms provided by the West Midlands Regional Genetics Service.

Please see the Patient information leaflet regarding rapid exome sequencing.

R14 Request form and R14 Pathway, as well as information about the coverage for genes in PanelApp panels in the exome data, can be found on the right-hand side of the Exeter Clinical Laboratory website. Once the results are available, please contact the responsible Clinical Geneticist and make a referral to Clinical Genetics if indicated.

Urgent Referrals for Cancer Genetics

For patients where there is a reason why a test needs to be considered urgently, please state:

• urgent at the top of your letter
• the reason the referral is urgent
• the timeframe in which a result is ideally needed (as relevant)

A common reason that a test may need to be requested urgently is if it will modify treatment. This is especially important for late-stage patients where it will impact on prognosis. For patients where it will modify surgery decisions (such as bilateral vs. unilateral mastectomy) we will always try to see these patients in a timely manner, however, it is important that this is not something we will always be able to achieve within the desired time frames.

We can provide specific training and support for clinicians who wish to request genetic testing for their eligible breast or ovarian cancer patients. If you wish to take part in this training please contact us by email (genetics.info@nhs.net) or telephone (0121 335 8024) and ask that your query is directed towards Anna Considine and Phil Leonard.

If you have any questions about any urgent referrals for the cancer service please do not hesitate to email us at genetics.info@nhs.net or call us on 0121 335 8024. Please state clearly that it is an enquiry about an urgent referral. 

Other Urgent Referrals

If you have any questions about any urgent referrals, please do not hesitate to email us at genetics.info@nhs.net or call us on 0121 335 8024. Please state clearly that it is an enquiry about an urgent referral.

We accept referrals from GP, physicians, midwives and other healthcare professionals. We would ask patients to fill in the relevant Family History Form. If you are referring children, please also give parents the Development Form.

We would be grateful if you could hand the form(s) to your patients when you send us their referral. We accept ERS referrals; otherwise, you can refer by writing to us or emailing genetics.info@nhs.net . We have separate forms for Cancer and Rare Disease indications. Please ensure the correct form is used as this is very important to ensure the referral is dealt with appropriately. 

Please provide as much information as possible in your referral including:

• Patient’s contact details and NHS number
• Medical history
• Any known family history (including names and dates of birth of affected relatives if known)
• Copies of relevant investigations including the genetic laboratory report
• If there are language or learning difficulties
• Any pertinent social issues.

We also offer healthcare professionals a telephone consultation service (between 9am and 5pm on weekdays). Outside these hours there is an answer phone service.

Once the forms are completed, patients can send the Family History Form to us by email to genetics.info@nhs.net or by post to:

Clinical Genetics Department
Lavender House
Birmingham Women’s and Children’s NHS Foundation Trust 
Mindelsohn Way
Birmingham 
B15 2TG

Less than 10% of all 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, the cancers occur later in life, or the cancers have a strong environmental influence such as smoking or UV light.

Guidelines for referring patients with a family history of breast, ovarian, colorectal, and other cancers are listed below. The overall benefit of surveillance outside these guidelines has not been established. If you are unsure, please call 0121 335 8024 and ask for the cancer genetics service (WMFACS) for advice.

Please note close relatives are mother, father, sibling, child, parent’s siblings or grandparents.

If your patient states that a relative has an alteration in a gene, e.g. BRCA, please refer irrespective of whether they meet the below criteria as they may be eligible for presymptomatic genetic testing. Please include as much information as you can with your referral about the gene change found and the relative that was previously tested.

Breast Cancer

• One affected individual with medullary/basal or triple-negative cancer diagnosed under 40
• One first-degree relative, age under the age of 40
• One close relative with more than one primary breast cancer, first cancer diagnosed under 50
• One close male relative with breast cancer, at any age 
• Two close relatives (including one first-degree), average age below 50
• Three close relatives (including one first-degree), average age under 60
• 4 or more reports on one side of the family

Ovarian Cancer

Epithelial ovarian carcinoma are eligible for genetic testing before referral to genetics - test directory code R207 — National Genomic Test Directory

• Oncology and Gynae MDT clinicians can offer this testing
  • Support and training for testing is available from the genetics team -please contact bwc.mainstreamgenetics@nhs.net
• Referral to clinical genetics if a negative result is confirmed BUT there is a family history of more cancers including ovarian, breast, bowel, endometrial, gastric or cancers of the renal tract.
• Any patient with a gene change linked to ovarian cancer, or a ‘variant of uncertain significance’ identified in a gene linked to ovarian cancer risk.
• Unaffected women with TWO or more relatives (mother, sister, aunt, grandmother) with ovarian cancer under 70 

Colorectal Cancer

• One first degree relative age under 50
• Two or more close relatives, one of these a first degree relative (includes both parents)
• Three or more close relatives with colorectal cancer +/- other gastrointestinal, renal, urinary tract, uterine or ovarian cancer at any age, or two average age below 60
• Familial adenomatous polyposis (FAP) or other single gene polyposis disorder
• All patients with colorectal cancer or endometrial cancer are eligible for Immunohistochemistry (IHC) testing of MMR proteins at the point of diagnosis and before referral to genetics. Genetic testing on patients with an MMR protein deficient tumour can also be offered before referral to genetics - test directory code R210 National Genomic Test Directory/
• Oncology, Gynae, Surgical and Gastroenterology clinicians can offer this testing
  • Support and training for testing is available from the genetics team -please contact bwc.lynchgenetics@nhs.net
  • Refer all patients after mainstream germline R210 testing regardless of the result to clinical genetics. Patients with a mutation will need discussions about family testing. Patients without a mutation will require further tissue tests. 

Other Cancers

• 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 

Please provide your patient with the following form and ask them to complete it. You are welcome to also send a covering letter. Unfortunately, we cannot accept most cancer referrals without this completed form. 

 Cancer Family History Form

Urgent Referrals for Cancer Genetics

For patients where there is a reason why a test needs to be considered urgently, please state:

• urgent at the top of your letter
• the reason the referral is urgent
• the timeframe in which a result is ideally needed (as relevant)

A common reason that a test may need to be requested urgently is if it will modify treatment. This is especially important for late-stage patients where it will impact on prognosis. For patients where it will modify surgery decisions (such as bilateral vs. unilateral mastectomy) we will always try to see these patients in a timely manner, however it is important that this is not something we will always be able to achieve within the desired time frames.

We can provide specific training and support for clinicians who wish to request genetic testing for their eligible breast or ovarian cancer patients. If you wish to take part in this training please contact us by email (genetics.info@nhs.net) or telephone (0121 335 8024) and ask that your query is directed towards Anna Considine and Phil Leonard.

If you have any questions about any urgent referrals for the cancer service please do not hesitate to email us at genetics.info@nhs.net or call us on 0121 335 8024. Please state clearly that it is an enquiry about an urgent referral. 

Following on from the 100,000 Genomes Project, we continue to support mainstream genomic testing, where diagnostic genomic testing can be provided directly by clinicians in non-genetics settings. If you have a patient that you believe is eligible for testing, please check the Rare Disease Eligibility Criteria document.

To check what genes are being tested: https://panelapp.genomicsengland.co.uk/

To request a test, please use the Rare Disease Genomics Test Request forms provided by the West Midlands Regional Genetics Service.

For enquiries regarding eligibility please email: genetics.info@nhs.net and clearly mark as an enquiry regarding mainstream testing. 

For enquiries regarding the 100,000 Genomes Project, please contact wmgmc@nhs.net 

GP Care Pathways

There are some specific conditions for which we have created care pathways for use by GPs. As such we may not need to see patients with these conditions if they can be managed through primary care. Please download the relevant advice for these conditions, which are:

•  A1AD Alpha-1 Antitrypsin Deficiency Care Pathway 
• Familial Hypercholesterolemia (FH) — WMFHS Referral Form and WMFHS GP Referral Pathway
• Hereditary Haemochromatosis (HH)

We provide a wide programme of genetics and genomics teaching across the West Midlands including undergraduate and post-graduate teaching for doctors, midwives, nurses and other healthcare professionals.

As mainstreaming of genetic testing increases, we are increasingly delivering talks, forums and teaching to various specialities. For example, we have been involved in delivering talks regarding the rapid exome panel testing for neonates (R14) and organising a mainstreaming forum. If you have an enquiry regarding whether we can deliver some specific teaching please do not hesitate to contact us at genetics.info@nhs.net in the first instance. Enquiries regarding the first year medical student teaching at the University of Birmingham can be specifically directed towards Dr Rebecca Igbokwe.