Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's
Constance F Wells1, Guilaine Boursier1, Kevin Yauy1,2,3
1Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
Insights
Rapid trio exome sequencing (rES) in critically ill infants diagnosed 40% of cases within 16 days. This approach can improve care for infants with suspected monogenic conditions in a hospital setting.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Monogenic conditions are a significant cause of critical illness in infants.
- Rapid diagnosis is crucial for timely intervention and improved patient outcomes.
- Current diagnostic methods may not be fast enough for critically ill neonates.
Purpose of the Study:
- To evaluate the feasibility and impact of rapid trio exome sequencing (rES) in infants under one year old in intensive care.
- To determine the time to diagnosis and the impact on clinical care.
Main Methods:
- A monocentric study involving fifteen infants under one year old in intensive care with suspected monogenic conditions.
- Rapid trio exome sequencing (rES) was performed between April 2019 and April 2021.
- The primary outcome measured was the time from blood sampling to the rES report provided to parents.
Main Results:
- All rES results were available within 16 days.
- Results were reported to parents in or under 16 days for 13 out of 15 infants (86%).
- Six infants (40%) received a diagnosis via rES; two had genetic conditions not identified by rES. Eight infants' care was impacted by rES results, though four were discharged or deceased before results were available.
Conclusions:
- Rapid trio exome sequencing (rES) can be successfully implemented in a regional university hospital setting.
- rES offers rapid and impactful diagnoses for critically ill infants with suspected monogenic conditions.
- This diagnostic approach has the potential to significantly improve the care of critically ill infants.
Abstract:
This monocentric study included fifteen children under a year old in intensive care with suspected monogenic conditions for rapid trio exome sequencing (rES) between April 2019 and April 2021. The primary outcome was the time from blood sampling to rapid exome sequencing report to parents. All results were available within 16 days and were reported to parents in or under 16 days in 13 of the 15 individuals (86%). Six individuals (40%) received a diagnosis with rES, two had a genetic condition not diagnosed by rES. Eight individuals had their care impacted by their rES results, four were discharged or died before the results. This small-scale study shows that rES can be implemented in a regional University hospital with rapid impactful diagnosis to improve care in critically ill infants.
