App to detect genetic conditions in babies

Dubai - With mGene, genetic problems missed at birth can be caught

A picture taken at birth will now be used to analyse if the baby is born with a genetic condition, according to the UAE Ministry of Health officials. They were introducing a new app at Arab Health on Tuesday.
With swollen features and no indications of any illness, even pediatricians often miss signs of possible complications in babies at birth. But with the use a high sensitivity app called mGene that is currently being used at Al Qasimi Hospital chances are that genetic problems that are missed in 1 in 3 babies at birth will be caught and treated early.
Nearly 250 babies have been tested using the app since October at the hospital. Results are 95 per cent accurate, explained Dr Safia Al Khaja, Consultant Paediatrician at Al Qasimi Hospital who is using the app with the help of Sheikh Zayed Institute at Children's National Medical Centre in the US.
The 'bit-sized genetist' works in a simple way and gives the doctor an idea if the child falls in the high risk disease category or not. A picture of the baby's face and palm is taken from different angles soon after birth. Within minutes, the app shows if the child is normal, low risk or high risk.
"If the app says that the child is high risk but we are unable to find any such indication from the facial features, then we will run a series of tests from tip to toe to find out," she explained. "For example, we recently found out that a baby was born with a heart condition even when there were no outer indications. This helped the child get treatment early on and saved a life."
In normal tests, it may take up to a month for test results to be back and tests may have to be done on the family, as well.
The app works with the current 270 genetic diseases studied and found in the UAE and also includes the patient's ethnicity. "The app will be updated as and when the genetic database is updated in the country," said Dr Safia.
Detecting heart murmur
A similar app called StethAid to detect a heart murmur in children aged 2-18 years, was announced earlier by Dr Yousif Mohammed Al Serkal, Assistant Undersecretary for Hospitals Sector and Kurt D. Newman, President and Chief Executive Officer at Children's National Medical Centre after the signing of a Memorandum of Understanding.
"Though a validation is currently underway for the app, once we start using it in hospitals, it will reduce the burden on cardiologists," explained Raj Shekhar, Principal Investigator at the Sheikh Zayed Insititute for Paediatric Surgical Innovation.
"Sometimes doctors refer children to cardiologists after suspecting a murmur in the heart ... this could be innocent."
This app indicates the seriousness of the disease, he said.
asmaalizain@khaleejtimes.com