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)