Information for professionals

Clinical Genetics is a multifaceted speciality, which crosses several other medical specialties. The way we practice is changing, as rapid advances in genetics testing are transforming diagnosis and treatment across many specialties. However, this incredible growth in the range and power of genetic testing increases complexity. Our team of Consultants and Genetics Counsellors is here to help healthcare professionals across the West Midlands to learn to use genetic testing safely and to the maximum effect. Join us in this exciting journey of discovery and transformation of the way we provide diagnosis and treatment for our patients.

What we offer

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) 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. With the new test directory many diagnostic tests can now be requested by clinicians in various specialities (mainstreaming of genetic testing). However we are always happy to provide advice and answer questions regarding such testing or you are welcome to refer such patients to us. 

Predictive (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. According to the test directory, all predictive testing is 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.  

Clinic Locations

We run our face-to-face clinics in Birmingham in the Outpatient Department at the Clinical Genetics Department in the modular building (called Lavender house) next to the Birmingham Women’s Hospital (please see map for where to find us) and at District Hospitals across the West Midlands. Please see map for genetics service in your area and contact the department for details.

Map of West Midlands

We run our virtual clinics via phone or Zoom, so that patients can have a consultation from the comfort of their home when this is suitable for their condition. These virtual clinics serve a number of District Hospitals in the West Midlands including patients from Birmingham. You can find a list of where we hold clinics with maps here.

Specialist Clinics

We also run a number of specialist clinics. You can find out which consultant has the relevant special interest or you can contact the department.

  • Adult Neurology
  • Aortopathy
  • Arthrogryposis (adult and paediatric)
  • Birt-Hogg-Dubé
  • Deafness
  • Differences in Sexual Development (adult and paediatric)
  • Genetic Bone Service (adult and paediatric)
  • Gorlin Syndrome
  • Endocrine
  • Hereditable Vascular Malformations (e.g. HHT; CCM)
  • Huntington's Disease
  • Inherited Cardiac Conditions
  • Neurofibromatosis
  • Neurometabolic (paediatric)
  • Paediatric Neuromuscular
  • Paediatric Tumours
  • Renal (adult and paediatric)
  • Short Stature/Growth
  • Structural Eye Anomalies
  • Von Hippel Lindau

GP Care Pathways

There 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:

Hypermobile Ehlers-Danlos Syndrome

In addition, we commonly receive referrals for Hypermobile EDS which in the past we were able to see, but a recent change in guidelines means that we are no longer able to accept referrals for this condition. If you feel that your patient has additional features suggestive of another type of connective tissue disorder, and would benefit from a genetics clinic appointment, please refer to the further guidance available here for more information.

Who can refer and how to make a referral

Referral guidelines for the NON-cancer genetics service:

We accept referrals from GPs, physicians, midwives and other healthcare professionals. We would suggest patients fill in the relevant General 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 us at We have separate forms for cancer and non-cancer referrals. 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 FHF to us by email to or by post to:

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

B15 2TG

Urgent general referrals (prenatal, NICU/PICU, R14 service)

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: If a patient is currently pregnant please complete this prenatal urgent referral form [pdf] 136KB. Please send the completed form to Some patients will be eligible for rapid exome testing (R21) during pregnancy. If you have a referral or query regarding R21 testing please email and clearly mark that it is a referral/enquiry re. R21. You do not need to complete the referral form.

Neonatal/paediatric patients who are eligible for rapid exome testing (R14):

R14 – Rapid Exome Sequencing for Acutely Unwell Babies/Children with a Potential Monogenic Disorder

As per the National Genomic Test Directory under R14 category, rapid exome sequencing can be requested by a paediatrician, once the testing is approved by a Clinical Geneticist. A video on the indications for rapid trio exome sequencing and how it works can be viewed here.

Eligible patients are babies and children with a potentially monogenic (single-gene) disorder causing them to become unwell, and where a rapid diagnosis would 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, multiple congenital anomalies or dysmorphism syndromes needing acute management or ventilatory support. If in doubt, discuss with the on-call clinical geneticist via the email address.

The referral pathway for the West Midlands, including information on sample bottles, can be found here: R14 pathway [pdf] 186KB

Please find the patient information leaflet regarding rapid exome sequencing here:  R14 Patient information leaflet NICU-PICU exome sequencing [pdf] 279KB  

‘R14 Request Form’ and ‘R14 Test Record of Discussion Form’, 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.

Other urgent referrals for non-cancer service

If you have any questions about any urgent referrals for the non-cancer service please do not hesitate to email us at or call us on 01213358024. Please state clearly that it is an enquiry about an urgent referral.

Referral guidelines for the cancer genetics service

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 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 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.

Breast Cancer

The patient to be referred is affected by cancer and fulfils one of the below criteria/is part of a cluster 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
  • 4 or more relatives with breast cancer on one side of the family

Ovarian Cancer

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.

Colorectal Cancer

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:

  • Colorectal cancer below 45
  • Two close relatives (who are first-degree relatives) average age under 60 (including both parents)
  • Three or more close relatives with other gastrointestinal, renal, urinary tract, uterine or ovarian cancer at any age, or two average age below 60
  • Multiple polyps potentially in keeping with a polyposis disorder

Other Cancers

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

The overall benefit of surveillance outside these guidelines has not been established

Please provide your patient with the following form and ask them to complete it. Your details can go on the first page and you are welcome to also send a covering letter. Unfortunately, we cannot accept most cancer referrals without this completed form.

Urgent referrals for the cancer genetics service

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 who 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 provide specific training, called ‘Generate’ training, for clinicians who wish to request BRCA testing for their eligible breast or ovarian cancer patients. If you wish to take part in this training please contact us by email ( or telephone (0121 335 8024) and ask that your query be 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 or call us on 01213358024. Please state clearly that it is an enquiry about an urgent referral.

Mainstream Genomic Testing

Following on from the 100,000 genome project where clinicians around the region recruited patients for genomic testing, we continue to support mainstream genomic testing. 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 please see:

Genomic test request: TBC

Record of discussion: TBC

For enquiries regarding eligibility please email: and clearly mark as an enquiry regarding mainstream testing.

Information for patients or clinicians regarding the 100,000 genome project

Contact regarding 100,000 genome project results:

Information for Visitors

Please see our policy regarding visitors to the department and who it is appropriate to contact.


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 health care 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 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.