South East Genomics

South East Genomics

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South East Genomics

Transforming patient care through genomics across South London and Kent, Surrey and Sussex

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Supporting the implementation of personalised medicine 

NHS South East Genomic Laboratory Hub

   

One of the largest providers of genomic testing in the UK and a national centre for specialist testing for cardiology, gastro-hepatology, haematology, neurology, respiratory and skin conditions.

   

Providing clinical and scientific leadership to enable all staff across the NHS to use genomics safely, effectively and efficiently.

Embedding genomics into mainstream clinical care

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Information for clinicians:

To improve the diagnostic potential of Whole Genome Sequencing, we are introducing the following change:

Carrying out Whole Genome Sequencing as a trio with the parents of the affected child increases diagnostic rate and accuracy, reduces the chance of an inconclusive result and reduces the turnaround time. As a result, singleton referrals where the proband is under 16 will now be put on pause until Records of Discussion and samples are obtained from parents. The exception to this is R193 Cystic Kidney Disease, or cases where a coroner is involved.

If it is not possible to obtain a sample and ROD from the parents, please do let us know and the referral can be processed as a duo (if only one parent sample can be obtained) / singleton.  Please note that parents do not need to be affected, as testing unaffected parents may still increase the diagnostic rate and accuracy for the affected child. 

Please note, completing the referral form electronically would reduce discrepancies and any delays in testing

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here. 
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.