Single blood test reveals 10% of babies at risk of genetic illness

Currently babies are only tested for a small number of diseases using the ‘heel prick’ blood test shortly after birth. Elisabet Ottosson/Flickr

Currently babies are only tested for a small number of diseases using the ‘heel prick’ blood test shortly after birth. Elisabet Ottosson/Flickr

Published Jan 9, 2019

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Almost one in ten newborn babies may have genes which put them at risk of illness or disease, a study shows.

A simple blood test can detect genetic mutations in infants which could lead to serious health problems. When scientists examined the DNA of 159 newborn babies they found 15 at greater risk of ill health.

Six had genetic variations linked to heart problems and another had a genetic mutation associated with nutrient deficiency which can cause hair loss and rashes. Two baby girls carried a gene putting them at risk of breast and ovarian cancer in adulthood, while a third was at higher risk from colon cancer.

The research led by Brigham and Women’s Hospital and Boston Children’s Hospital in America is published in the American Journal of Human Genetics.

Co-author Dr Robert Green said: ‘We were stunned by the number of babies with unanticipated genetic findings that could lead to disease prevention.’

His colleague Dr Alan Beggs said: ‘Sequencing results have potential to raise questions that may be upsetting for parents but could also lead to helpful or even life-saving interventions.’

Currently babies are only tested for a small number of diseases using the ‘heel prick’ blood test shortly after birth.

But experts say in the future it would be ‘routine’ for people to have genetic test results in their medical records.

© Daily Mail

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