Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
Bhatia, Sameer, et al. “Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.” European Journal of Human Genetics (2024): 1-10.
This is an interesting article showing that lower turnaround times (TAT) for whole-genome sequencing (WGS) and whole-exome sequencing (WES) are required in clinical practice.
They achieved a great genetic diagnosis yield, with 32 of 70 probands (45.3%) diagnosed. 13 diagnosed probands had changes in their management. This represents a significant improvement in Clinical WGS. However, clinical situations in the ICU can rapidly evolve, so a precise diagnosis should be fast. They describe 3 cases where a prompt genetic diagnosis improved medication.
Case
- A one-month-old girl was diagnosed after multiple anti-epileptic drugs were administered. A genetic test showed a pathogenic de novo mutation in KCNQ2. The subsequent carbamazepine treatment was effective.
- A seven-month-old boy had a pathogenic mutation in SCN1A. Early guided therapy controlled his syndrome.
- A five-year-old girl had a pathogenic KCNQ2 mutation. The subsequent carbamazepine treatment was effective.
Unmed clinical need
However, the turnaround time for WGS is approximately 6 weeks in this study. The TAT is not optimal for therapeutic utilization in acute care. Rapid WGS (rWGS) with a TAT of 7–10 days or ultra-rapid WGS (ultra-rWGS) with a TAT of 2–5 days is an ideal solution. There is a huge amount of data and many variants to be processed. data processing is challenge.
This figuare is an example of lots of varaints and reads aligned on KCNQ2 gene
Notice:
The research article discussed here does not reflect any projects or technologies currently pursued by GeneAsic. The paper is shared here for informational purposes to showcase developments in the field of NGS.
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