First newborns join screening for more than 200 rare diseases

There are approximately 7,000 single gene disorders, but the programme will look only for those disorders that develop in early childhood for which there are effective treatments.

In some cases the diseases are curable, if caught early.

Screening newborn babies for these rare diseases involves sequencing their complete DNA – or genome – using blood samples from their umbilical cord.

At Birmingham Women’s Hospital, which is already offering the screening test, Dominika Nanus, 38, told me it was a “no-brainer” to take part in the study, having seen it advertised on a poster during an antenatal appointment.

She said her daughter Emilia, born the previous day, would “benefit directly but also contribute to wider research”.

Before she had even named her two-day-old son – now called Hugo – Jemma Jordan, 40, told me she had no hesitation in having him screened, because she would rather know if there were any health issues “from the offset”, and because it would help children in the future.

Dr Ellen Thomas, chief medical officer at NHS England, said the 200 conditions the study looks for cause “substantial health problems early in childhood”.

“The treatments and interventions which are available for all of them can have a dramatic impact on that child,” she added.