From the first breath
Genomics and AI are being used to tackle rare disorders in babies.
One area where genome sequencing is already being used clinically is in the diagnosis of rare disorders in newborns, such as spinal muscular atrophy, which can be treated with a new drug – but at the enormous cost of about US$100,000 a month for the first year, and ultimately $400,000 a year for life.
Consultant neonatologist Professor Frank Bloomfield, the director of the Liggins Institute and a clinician at Starship Hospital, says inherited metabolic conditions can be difficult to diagnose using current techniques; “micro arrays”, in which segments of the genome are sequenced, are being used to give diagnostic pointers. Internationally, some sick babies are having their entire genome sequenced and the results are interpreted with the aid of artificial intelligence (AI) to trawl computerised health records.
Whole genome sequencing is only rarely done here, but its use will increase, says Bloomfield. He says in one hospital in California, which is a world leader in the field, the technique is diagnosing up to 30% of newborns with an unexplained illness, which he calls a phenomenally high return rate for genetic testing.
The government here has committed to centrally linked electronic health records for mothers and babies – this will eventually roll out to all patients – which can be used for AI-assisted
interpretation of genetic results.
In one hospital in California, a world leader, the technique is diagnosing up to 30% of newborns with an unexplained illness.