Oftentimes, a quick diagnosis of a genetic disease in a newborn may provide life-saving interventions. Thanks to new advancements in gene screening, doctors may be able to speed up the testing process in hospitals.
In today’s world, newborns who show signs of rare genetic diseases usually need a myriad of tests that can take years to provide a diagnosis, a terrible time for parents anxiously waiting to hear what could be wrong with their baby.
The new, faster tests and next-generation sequencing panel studied by Canadian researchers could change the way hospitals make diagnoses, and therefore, change the treatments given to infants.
Dr. David Dyment, of Children’s Hospital of Eastern Ontario, believes that the new tests could completely revolutionize the clinical genetics practice, particularly benefiting newborns admitted to the NICU with complicated and unusual genetic diseases.
The new sequencing panel was tested on 20 newborns who were being treated in neonatal intensive care units (NICUs). The infants had varying symptoms; half had neurological problems, like seizures. 8 out of the 20 newborns received a genetic diagnosis from the gene sequencing panel. Of these 8, the care of 2 infants was directly affected thanks to the speedy diagnoses. If it weren’t for the new test, it’s likely the infants’ families and doctors would still be in the dark about the treatments needed.
Dyment noted that the gene screening technique is able to be performed right within a hospital-based laboratory, instead of being sent out for results that could take months. Because of this, diagnoses can be made quickly. Nervous families need – and greatly appreciate – answers. Not to mention, the fast diagnosis could save a baby’s life.
Dr. Sarah Bowdin of the clinical and metabolic genetics division at the Hospital for Sick Children in Toronto wrote a commentary to accompany the findings. She noted that families can feel a terrible, and universal, guilt if their newborn is ill – oftentimes, they assume the sickness was brought on by something that they did wrong.
According to Bowdoin, the new testing can reveal whether or not the genetic disease could affect other family members, not just the newborn. Additionally, if a mother is planning on becoming pregnant again in the future, she can look to the tests to provide accurate data on whether or not the genetic disease could occur in another child.