Next-generation gene sequencing in newborns is hoped to better diagnose rare diseases and deliver faster results to anticipating parents, a new study reports.
Researchers from the Children’s Hospital of Eastern Ontario in Canada emphasized the potential of molecular diagnosis from this technology to quickly transform clinical genetics, particularly for newborns admitted to neonatal intensive care units (NICU) with rare, intricate illnesses.
“This technique can be performed in a hospital-based laboratory without the need to send samples away, often out of the country,” reported lead author Dr. David Dyment, saying it can readily answer the questions of anxious families and offer life-saving interventions.
Typically, infants suspected to harbor rare genetic conditions undergo a battery of tests. Current testing revolves around certain genes and could entail bringing samples outside the country for analysis, taking months to years before a diagnosis is finally made.
“Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosis when no recognizable syndrome is suspected,” wrote the researchers.
The team held a pilot study on 20 newborns to gauge the efficacy of a targeted next-generation sequencing panel that comprised 4,813 genes linked to rare illnesses at present. The babies had an expansive range of complex health issues, with half exhibiting neurological symptoms like seizures.
The gene screening test offered a molecular diagnosis for 8 out of the 20, or 40 percent of the participants. It directly affected the medical management of two infants.
Some of the diagnoses made were renal tubular dysgenesis, myotubular myopathy, congenital myasthenic syndrome, and Denys-Drash syndrome, which is characterized by kidney disease beginning in the first few months of life.
In an accompanying editorial, Dr. Sarah Bowdin from the Hospital for Sick Children in Toronto said that an understanding of their babies’ condition will enable families to somehow get rid of the “almost universal guilt” among parents, or that feeling that they did something wrong to cause the disease.
The correct diagnosis can also show whether other members of the family are potentially at risk of the same condition, guiding future pregnancies, she added.
The findings were discussed in the Canadian Medical Association Journal.
Photo: Cesar Rincon | Flickr
