Spotlight on...Neurodisbility and Epilepsy #GenomicsConversation

Neurodisbility, Epilepsy and Genomics

This week is the national #GenomicsConversation week of action, part of a campaign launched by the Genomics Education Programme (GEP) to dispel the myths, explain the facts and outline the clinical impact of genomics. At South East we will be sharing a series of interviews with different health professionals where they discuss how genomics is changing how they care for their patients.

Fourth in our Spotlight on Genomics series, we interviewed Dr Joseph Kalegias, consultant paediatrician in Neurodisability and Epilepsy at East Sussex Healthcare NHS Trust, on how he uses genomics in his clinical practice.

What do you feel are the benefits of genomic medicine for your patients?   The first is to answer to the crucial questions of parents “why” and give an end to the diagnostic trip of the child. The second is that there is an emerging area of targeting treatment in Epilepsy and this is a really fascinating area.

What do you feel are the limitations of using genomic testing as part of routine clinical care?     I cannot think of any limitations!

Do you use genomics in your clinical practice now?   Yes.

What most excites you about genomics?   The aetiological approach of the patients but above this the field of targeting treatment in Epilepsy.

What does the future hold for genomics in your field?   Fantastic opportunities for better understanding and precise treatments.

With the roll-out of the new Genomic Medicine Service this year, whole genome sequencing will for the first time be available as an NHS test and become a routine part of medical care for certain rare diseases and cancers. How do you envisage implementing this within your service?    Excellent opportunity to investigate some children with complex presentation.

Do you have any suggestions on how we can raise awareness of genomics amongst your colleagues?   Promote how we have moved from the period that we simply described our findings,  to a position where we are now able to explore the functional consequence of a genetic abnormality in an experimental model and that this can give further ideas for targeted treatment.

Do you have any suggestions on how we can raise public awareness of genomics?   Similar as above – publicise the benefits of genomics.

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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.