Newborns to be screened for 92 genetic conditions: Trial which focuses on liver problems aims to improve disease management

Newborn babies with suspected liver problems are to be screened for 92 genetic conditions as part of a trail to improve treatment of rare and poorly diagnosed diseases.

The trial is scheduled to begin next month at Birmingham Children's Hospital, with other centres carrying out testing in eight other countries. Thousands of children are admitted to liver unites every year suffering from jaundice, poor growth and itchy skin, all symptomatic of liver problems. Doctors are often unable to identify if there is an underlying genetic condition that might benefit from more targeted treatment.

In general, metabolic and other inherited disorders can hinder an infant's normal physical and mental development in a variety of ways. And parents can pass along the gene for a certain disorder without even knowing that they're carriers. Chris Hendriksz, a consultant in clinical inherited metabolic disorders at Birmingham Children's Hospital, said that the pilot liver study provided proof of the feasibility of concurrent screening.

Source - Daily Mail