Gene test at birth should help catch disease early, specialists say

Berlin (dpa) – Newborn babies should be given a genomic sequencing check to assess their vulnerability for hundreds of diseases, according to a team of Australian scientists and doctors. "Adding genomic sequencing to newborn blood screening would detect hundreds of additional childhood conditions, providing much earlier diagnosis and treatment," the researchers say.  Babies in Australia are sometimes given a heel-prick blood test to check for up to 32 conditions, but the genomic sequencing, which could be done as part of the blood screening, not only "reveals a person’s entire genetic make-up" but could throw up "results for hundreds of treatable conditions" within about two weeks of birth. From the Murdoch Children’s Research Institute (MCRI) and Victorian Clinical Genetics Services (VCGS), the team point out that because the genome is "for life," it can be re-examined later in life to check for any "health issue." The team's research took in 1,000 newborns in Victoria, who were checked for "variants in 605 genes associated with early-onset, severe, treatable conditions." "Newborn screening for rare conditions is one of the most effective public health interventions," says Zornitza Stark of the MCRI and VCGS. Widespread deployment of the screening, which can be done in tandem with the current blood sampling system, could prove to be lifesaving as more babies are rapidly diagnosed and treated, the team says in the paper published in journal Nature Medicine.  "Our study demonstrates the feasibility of clinically accredited genomic newborn screening, using a scalable model that is highly acceptable to parents," the team says in the paper. The following information is not intended for publication dpa spr arw

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