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Newborns to be screened for genetic conditions

16 August 2010
Appeared in BioNews 571

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.

Birmingham Chidren's' Hospital Department of Clinical Inherited Metabolic Disorders
|  12 August 2010
Newborn babies to be screened for 92 genetic conditions in trial
The Times |  7 August 2010
Newborns to be screened for 92 genes
Daily Mail |  7 August 2010
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