Neonatalis-Stat®: neonatal emergency genomics

The NeonataliStat^® genomic test analyzes in 48 hours, through massive parallel sequencing, the DNA of ~1100 genes associated with severe genetic diseases of newborns, utilizing a specially developed bioinformatics algorithm.

Genetic disorders and birth defects in general are the main cause of death of newborns, with many of them due to gene diseases. Although we do not know the exact percentage of newborns admitted to neonatal intensive care units (NICU) with birth defects, it is estimated that 76% of imports in the NICU are made for reasons other than prematurity.

A 1991 study in Scotland, from a group of 821 successive imports in NICU, it was found that 5.7% of admissions involved chromosomal or gene abnormalities and this figure is probably underestimated due to the lack of many modern genetic diagnostic tests at the time.

Very recent publications have provided proof-of-principle of emergency genomic analyses in neonates admitted to NICU, which may lead to a diagnosis within two days, often saving the life of the affected infant by applying appropriate customized treatments and towards this end the Neonatalis-Stat^® genomic test was developed, with the aim of providing a decisive contribution in this highly sensitive field.

The Neonatalis-Stat^® genomic test has been specifically optimized, in terms of laboratory protocols – data collection and bioinformatics data analysis, in order to be completed in no more than 48 hrs, thus achieving its main purpose of a lab-to-bedside emergency (STAT) diagnostic test.

Testing requires a blood sample from the affected neonate to be tested (a sample collection and shipment kit will be provided). Prior to testing, both parents must complete and sign the Test Information and Patient Consent Form, with the option of receiving pre-test genetic counseling.

The sample is shipped immediately to our laboratory where genomic DNA is extracted, followed by exome enrichment for the ~1100 genes and massive parallel sequencing (also known as Next Generation Sequencing – NGS), as optimized for rapid turnaround time.

Sequence reads are then aligned and mapped to the human genome reference sequence and all variants and putative mutations are prioritized through a proprietary in-house bioinformatics pipeline. Known or expected pathogenic (nonsense, frameshift, splice-site) mutations are reported, together with a full clinical assessment and clinical genetic evaluation.

In cases with positive findings, clinicians and the parents are notified and the results are may discussed through a genetic counseling session.

Further decision-making lies in the hands of the attending neonatology clinical experts, in terms of disease management and possible therapeutic actions.