doctors’ visit could be lifesaver for babies

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RUSSIAN babies born with potentially fatal genetic disorders could receive life-saving treatment after doctors from the country travelled to Yorkshire to learn from top children’s medics.

The geneticists visited laboratories at Sheffield’s Children’s Hospital yesterday, where a pilot study to screen 430,000 babies for five rare diseases is taking place.

The labs are a flagship testing base in the UK for rare diseases, taking tests from across the country for screening and diagnoses, and the Russian party was aiming to learn from its scientists.

Dr Jim Bonham, clinical director at Sheffield Children’s NHS Foundation Trust, said: “We are proud of the screening programmes that operate in the UK and we are always delighted to share our experience.

“In 2007 Russia began screening for rare metabolic disorders and currently the country tests every newborn baby for five rare metabolic diseases.

“All regions are covered by programme but the country’s health officials want to perfect and develop the screening programme and widen the number of diseases they test the babies for.”

In England, all newborns are tested for five common conditions including cystic fibrosis and sickle cell disorders, and in the new pilot screening led from Sheffield they will be tested for a further five.

Professor Petr Novikov, the chief geneticist at the Russian ministry of health, said Russia’s screening programme suffered difficulties because of the vast size of the country.

He said: “For Russian geneticists this visit is a great opportunity to see how screening works in the UK and to take some experience from British specialists.”

The pilot scheme to screen for extra rare diseases led by Sheffield Children’s NHS Foundation Trust began in July 2012 and will be evaluated by the UK’s National Screening Committee when it is completed.

It is testing newborn babies in consenting families for five metabolic conditions which if unrecognised can eventually lead to severe disabilities.

Dr Bonham said the conditions occur in fewer than one in 100,000 children but patients affected can benefit enormously from the early detection and treatment offered by screening.