A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study.

Lata VadlamudiCarmen Maree BennettMelanie TomGhusoon AbdulrasoolKristian BrionBen LundieHnin AungChiyan LauJonathan RodgersKate RineyLouisa G Gordon

Published in: Journal of clinical medicine (2022)

We demonstrated diagnostic yield from genomic testing, and the impact on management in a cohort with drug-resistant epilepsy. The MDT approach increased confidence in genomic testing and neurologists valued the input from this approach. The utility of CMA was demonstrated in epilepsy patients seen by adult neurologists as was the importance of considering mosaicism for previously undiagnosed patients.

Keyphrases

drug resistant
end stage renal disease
ejection fraction
newly diagnosed
multidrug resistant
prognostic factors
peritoneal dialysis
palliative care
young adults
pseudomonas aeruginosa
quality improvement