Information for professionals

A paediatric neurodevelopmental disorders genomic investigation pathway has been established in the East Midlands to streamline the investigation of children with global developmental delay or intellectual disability. Details of the current criteria for testing are in the attached pdf slides, including some FAQs:  NDD pathway East Midlands Sep 2024.pdf [pdf] 322KB

The proforma for referral to the Clinical Genetics MDT is available here  Clinical Genetics Paediatrics MDT referral form.docx [docx] 23KB- this is held every 3 ^rd  Wednesday on Teams between 10-11am. The Teams link has been circulated to community and neurodisability paediatrics teams in the region.

You can contact us on nuhnt.clinicalgenetics@nhs.net for any questions or clarifications.

Outpatient only service:

By referral - from GP, secondary and tertiary care.

Clinical referrals are accepted from GPs (via ERS or partial 'choose and book' accepted), consultants, associate specialists, cancer family history clinics, antenatal services and other relevant health professionals such as health visitors.

All referrals should be made to the Clinical Genetics Service at Nottingham City Hospital. If the referral is urgent, such as obstetric cases, to allow earliest possible intervention please telephone 0115 962 7728 with the referral or email a referral letter to nuhnt.clincalgenetics@nhs.net . All referrals are reviewed on a daily basis by an experienced clinician.  

For all referrals please include as much relevant information as possible, including contact details of your patient and names of significant relatives if known. It is particularly helpful to us to have a daytime telephone number. Prior to making any referrals please ensure that you have discussed this with the patient and that they wish to be seen.

If you have any questions regarding whether to refer a patient or want to discuss any details, please do not hesitate to contact us on: 0115 962 7728. There is always a designated member of the clinical team available for telephone enquiries.

We currently run outpatient clinics at:

• Nottingham City Hospital
• King's Mill Hospital
• Grantham Hospital
• Pilgrim Hospital (Boston)
• Lincoln County Hospital (paediatric clinic)
• The Johnson Community Hospital (Spalding)
• Royal Derby Hospital

In general, new referrals for breast, ovarian and bowel cancers should be sent to the appropriate family history clinic unless the patient is terminally ill or there is a known mutation in the family.

For further details please see the following page.

Cancer referral management guide

Mainstreaming of genomic testing is the process by which a clinician can request genomic testing for their own patients, thereby reducing their diagnostic pathway. Genomic testing is now Nationally funded for patients in England, and guidance on which tests mainstream clinicians can order, eligibility for testing, and testing technology are detailed in the National genomic test directory. Please see the following pages on requesting genomic testing for both rare disease and cancer.

Mainstreaming rare disease

Mainstreaming cancer genetics

BRIDGE II Nottingham

• Parallel session on day 1 on 'basics of imaging for non-radiologists' and 'basics of genomics for non-geneticists'
• Expert speakers will cover critical topics including cortical and posterior fossa malformations, white matter disorders, calcification and iron accumulation, foetal imaging, and more.
• Each session will be aligned to one or more category in the National Genomic Test Directory published by NHS England
• Interactive opportunities throughout, including app-based quizzes on imaging, genomic and general themes to enhance learning.