Newborn babies showing signs of liver disorders will be screened for 92 genetic conditions, as part of a trial launching next month at Birmingham Children's Hospital. Newborns will be screened for multiple conditions with a single test using gene chip technology.
'We have shown that it is possible to screen accurately for many diseases simultaneously. This is a singular breakthrough, especially of benefit to children affected by rare disorders that are frequently late-diagnosed' said Dr Chris Hendriksz, one of four consultants leading the trial at Birmingham Children's Hospital.
The trial would allow treatment for such rare disorders to be implemented sooner and in a more targeted manner. 'These [disorders] can often be managed if detected early', said Dr Hendriksz.
Previously gene chip technology had mainly been used to screen for a single disease. However a pilot study, carried out at Birmingham Children’s Hospital, screening for 12 different liver diseases produced an accuracy rate between 83% and 95%. Following these results, published in the journal Human Mutation, the trial will be launched in centres in eight other countries, in addition to the UK.
The screens only require a single drop of blood and are estimated to be cheaper than currently available tests. Each screen would cost between £600 and £1000 per person, according to specialists in the field. This is approximately the same price current genetic tests for a single liver disorder cost.
The trial will screen approximately 300 newborns a year according to Professor Deidre Kelly, head of the Liver Unit at Birmingham Children's Hospital. 'Our long-term intention is for every child with liver disease to have their DNA checked for a whole range of genetic disorders using the chip', Professor Kelly stated.
Currently newborn babies are subjected to heel-prick blood spot testing for only five diseases; the metabolic disorders MCADD and phenylketonuria, cystic fibrosis, sickle-cell anaemia and hypothyroidism. Similar testing for rarer diseases is largely still unavailable.
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Newborn babies to be screened for 92 genetic conditions in trial