The teenager took part in a three-year Queensland Health pilot study using whole genome sequencing of children with rare conditions.
Dominic Kokolis was born with a genetic condition so rare doctors were unable to provide a diagnosis for most of his life.
"They diagnosed him early with global developmental delays. He wasn't walking … when he should be walking, speech didn't happen."Feeding was an issue. Kids with Malan actually have a high palate and a lot of teeth, a lot of crowding, big jaws. He wasn't actually creating a seal to breastfeed." Doctors unsuccessfully tested Dominic for different genetic conditions as a baby, including Angelman syndrome.Whole genome sequencing allows scientists to be able to sequence every gene, giving them a better chance of finding a mutation in a child that results in a medical disorder.)
"We have found conditions where treatment might be possible and that's going to increase over time, obviously, as we get better at treating genetic conditions," she said.
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