Rapid Exome/Genome Sequencing in acute paediatric settings influences acute and long-term management of patients and their families
Clinical Genetics and Therapeutics
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Primary Categories:
- Clinical Genetics
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Secondary Categories:
- Clinical Genetics
Introduction:
Rapid Exome/Genome Sequencing Service was launched by National Health Service England on 1st October 2019 for acutely unwell babies and children with a likely monogenic disorder. The service was provided by the Exeter Genomic laboratory under R14 category as per the National Genomic Test Directory. We present a clinical audit data of five years of the service from one regional clinical genetics centre (West Midlands Clinical Genetics centre) In England.
Methods:
Patients were identified from the molecular laboratory list and data was collected retrospectively for all the patients who underwent rapid exome/genome sequencing (R14) over a five-year period, from 01.10.2019 to 30.09.2024. A retrospective case note review was performed using the electronic clinical genetics database. A standardised proforma was used to collect anonymised data, which was pooled for analysis.
Results:
535 patients were included in the analysis. 44% referrals were from Paediatric and Neonatal Intensive care units, 35% from other Paediatric Specialties and 26% from Clinical Genetics. The majority (93%) underwent trio gene agnostic analysis. The overall diagnostic rate was 41%. Diagnostic rate was highest in neuroregression, skeletal dysplasia, neuromuscular and neurometabolic disorders. Median turn-around-time for final reports was 13 days. In most (89%) of the cases, rapid diagnosis influenced overall management. This includes acute management such as pharmacological treatment (23%), orientation of care (32%), referral to specialist services (42%) and providing accurate recurrence risk (92%). In recessive conditions, cascade screening was offered where appropriate.
Conclusion:
Rapid exome/genome sequencing is an extremely useful tool for rapid genetic diagnosis in acute pediatric care settings. Rapid genetic diagnosis not only influences acute management, but also helps with long-term management for patients and their families including extended family members.
Rapid Exome/Genome Sequencing Service was launched by National Health Service England on 1st October 2019 for acutely unwell babies and children with a likely monogenic disorder. The service was provided by the Exeter Genomic laboratory under R14 category as per the National Genomic Test Directory. We present a clinical audit data of five years of the service from one regional clinical genetics centre (West Midlands Clinical Genetics centre) In England.
Methods:
Patients were identified from the molecular laboratory list and data was collected retrospectively for all the patients who underwent rapid exome/genome sequencing (R14) over a five-year period, from 01.10.2019 to 30.09.2024. A retrospective case note review was performed using the electronic clinical genetics database. A standardised proforma was used to collect anonymised data, which was pooled for analysis.
Results:
535 patients were included in the analysis. 44% referrals were from Paediatric and Neonatal Intensive care units, 35% from other Paediatric Specialties and 26% from Clinical Genetics. The majority (93%) underwent trio gene agnostic analysis. The overall diagnostic rate was 41%. Diagnostic rate was highest in neuroregression, skeletal dysplasia, neuromuscular and neurometabolic disorders. Median turn-around-time for final reports was 13 days. In most (89%) of the cases, rapid diagnosis influenced overall management. This includes acute management such as pharmacological treatment (23%), orientation of care (32%), referral to specialist services (42%) and providing accurate recurrence risk (92%). In recessive conditions, cascade screening was offered where appropriate.
Conclusion:
Rapid exome/genome sequencing is an extremely useful tool for rapid genetic diagnosis in acute pediatric care settings. Rapid genetic diagnosis not only influences acute management, but also helps with long-term management for patients and their families including extended family members.
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