Health UK (Commonwealth Union) – The key to swiftly diagnosing over 100 babies born with rare diseases each year lies in two compact black boxes, each the size of a small loaf.
Recently installed genome sequencing machines at the Liggins Institute are poised to unravel a newborn’s DNA within a matter of days, or even hours, once the infant is transferred to the Neonatal Intensive Care Unit (NICU) at Auckland’s Starship Hospital.
Following the completion of data analysis, researchers engage in a time-sensitive pursuit, comparing the infants’ genetic information with that of their parents in a race against the clock to identify discrepancies.
Discrepancies in the DNA of the baby compared to that of the parents may indicate the presence of one of several hundred rare conditions. In an optimal scenario, this information empowers doctors to swiftly determine the most effective treatment for the newborn.
Even in cases where no medical intervention is possible, understanding the cause of a baby’s demise can prove beneficial for the family, aiding them in coping with the tragedy and potentially informing decisions for future pregnancies.
Professor Frank Bloomfield, Deputy Vice-Chancellor of Research at the University of Auckland and former Director of the Liggins Institute pointed out that inn highly stressful situations, where families are often compelled to make significant decisions regarding the provision of care, rapid diagnosis offers a crucial element of certainty.
Historically, the vast majority of unwell infants in New Zealand lacked access to genetic sequencing. In rare cases, blood samples were sent to Australia, a process characterized by rarity, lengthy timelines of several weeks, and a substantial cost of around $16,000.
According to Professor Justin O’Sullivan, who leads both the Liggins Institute and the genomics sequencing team, this scenario has changed. The sequencing process can now be efficiently carried out for any baby requiring it in less than seven days. Notably, the two sequencing machines, despite their cutting-edge technology, are surprisingly compact, comparable in size to a desktop speaker.
O’Sullivan indicated that they examine all 3 billion bases of DNA,” and their focus is on comparing it to the parental DNA, aiming to identify unique differences in the child.
These divergences could stem from various conditions, ranging from epilepsy to metabolic issues. For instance, metabolic problems may arise if the baby struggles to break down specific foods or isn’t receiving sufficient amounts of a particular nutrient.
“Some of these conditions can be treated, and if you get to them quickly it can make a massive difference and prevent long-term damage for the baby.”
Although certain genetic conditions either defy diagnosis or lack viable treatment options, O’Sullivan highlights that this landscape is continually evolving with advancements in genetics and medical knowledge.
He indicated that a rare condition is defined as something occurring in one in 2000 people, and there are approximately 7000 recognized rare disorders. However, rare disorders manifest more frequently in neonatal intensive care, accounting for up to 30 percent of the infants in that setting. Considering that on any given day in New Zealand, around 200 children are in neonatal intensive care, the prevalence of these conditions is significant.
“At the moment we can treat a few hundred, but over time we will be able to treat more and more of those 7000.”
During the initial phases of the program, testing will be restricted to newborns in intensive care units, specifically those cases where doctors suspect a potential genetic disorder. However, once the system is fully established, potentially by mid-2024, the testing scope can be broadened to include the sequencing of older children and adults with genetic conditions. This expansion opens avenues for individuals who may have faced challenges in obtaining a diagnosis in the past as indicated by researchers of the study.
