Ultrarapid genomics for the critically ill

The Erasmus MC-Sophia Children's Hospital is home to the largest neonatal and pediatric intensive care unit (ICU), along with one of the largest Clinical Genetics departments in the Netherlands. Critically ill pediatric patients often have genetic disorders that require swift diagnosis to guide urgent care. Traditional genetic testing typically takes weeks, and requires multiple tests, limiting its use in critical settings. With the concentrated demand for high-quality multidisciplinary care, the urgency for an up-to-date ultrarapid advanced genomic medicine platform becomes crucial. Nanopore long-read genome sequencing (LR-GS) enables ultrarapid, high-quality genetic testing within days.

We have recently implemented ultrarapid genetic testing using Nanopore long-read genome sequencing (LR-GS) at Erasmus MC to guide treatment and enhance outcomes in urgent care scenarios. In this study, we aim to retrospectively evaluate the use and experiences of ultrarapid genetic testing. We will investigate the 1) diagnostic yield, 2) turnaround time of clinical reporting 3) impact on clinical decision-making and consequences, 4) cost effectiveness of ultrarapid genetic testing, and 5) psychological impact on parents. 

Combination retrospective / prospective

Experiences with ultrarapid genetic testing using Nanopore LR-GS

There are no risks for patients associated with this research. For parents participating in the semi-structured interviews, there is a potential emotional burden discussing the experiences surrounding the hospitalization of their critically ill child.