At East Genomic Laboratory Hub we provide genomic testing for rare and inherited diseases, cancer and haematological malignancy. We provide tests listed in the National Genomic Test Directories and are working towards full implementation of the tests for all those eligible.
National Test Directories
The 2020/2021 National Genomic Test Directories for rare and inherited disorders and cancer can be accessed online. They specify which genomic tests are commissioned by NHS England, the clinical indication for which they apply and hence the patients who will be eligible to access each test. They also detail the technology by which the tests will be delivered. The three parts include:
- National Test Directory for Rare and Inherited Diseases
- National Test Directory for Cancer (includes Haematological Tumours)
- Eligibility criteria for Rare and Inherited Diseases – this document lists the clinical specialties who would be expected to request for a given clinical indication and sets out which patients should be considered for testing under that indication.
The directory is updated each year to ensure access to the latest diagnostics and treatments. Further information on how the directory is updated and how you can put suggestions forwarded can be found in our Questions and Answers page.
If you have any questions about the genomic testing available in the East Midlands or East of England, please contact us by sending us an email to firstname.lastname@example.org or by completing our enquiries form.
Whole Genome Sequencing
Whole Genome Sequencing (WGS) has been launched across all seven GLH’s to test for the rare disease, solid tumour and haematological malignancy indications that are listed in the National Genomic Test Directory.
It requires special considerations for discussion with patients and families and for most indications, a specific WGS test request form. Further detail can be found here.
Whole Genome Sequencing (WGS) tests currently include:
- Solid tumours and haematological malignancies in the young
- Acute leukaemia
- Eligible rare diseases (NGTD Identification code - R code braacketed in following list)
- Congenital malformation and dysmorphism syndromes (R27)
- Intellectual disability (R29)
- Hereditary ataxia with onset in adulthood (R54)
- Early onset or syndromic epilepsy (R59)
- Childhood onset hereditary spastic paraplegia (R61)
- Hypotonic infant with a likely central cause (R69)
- Arthrogryposis (R83)
- Cerebellar anomalies (R84)
- Holoprosencephaly (not chromosomal) (R85)
- Hydrocephalus (R86)
- Cerebral malformation (R87)
- Severe microcephaly (R88)
- Ultra-rare and atypical monogenic disorders (R89)
- Likely inborn error of metabolism- targeted testing not possible (R98)
- Rare syndromic craniosynostosis or isolated multisuture synostosis (R100)
- Skeletal dysplasia (R104)
- Childhood onset leukodystrophy (R109)
- Neonatal diabetes (R143)
- Cystic renal disease (R193)
- Other rare neuromuscular disorders (R381)
Clinical and scientific expertise
Our experienced clinicians and scientists are available to support those ordering tests. If you have a specific question regarding a particular patient please do get in touch with the us and ask to speak to the Duty Scientist, or complete our enquiries form and we will get back to you as soon as we can.
We also have an educational lead who offers general educational support for genomics. You can email her directly on email@example.com
We provide regular updates to those using our service to ensure referrers are aware of any changes or delays to the usual service as well as any confirmed new tests. We will be launching a new regular newsletter and will be sharing details soon on how to sign up!
What your patients need to know
It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic testing.
An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place according to the Consent and Confidentiality in Genomic Medicine guidelines.
To support this requirement, the Patient Choice Consent Framework has been developed. Under this framework, a record of this discussion must be retained within the patient record when a genomic test is ordered.
Training for the Patient Choice Consent Framework is available online:
East GLH Genomics Online Learning Portal – Patient Choice
Clinicians must complete this training prior to ordering Whole Genome Sequencing.
Record of discussion forms
For all genomic tests, a record of discussion must be retained within the patient record. At this time, different tests require different record of discussion forms.
The appropriate record of discussion form can be downloaded from the webpage associated with each test type.