Baby genetic screening study marks milestone

A "revolutionary" study to detect rare genetic illnesses in newborn babies has signed up its 1,000th participant.

The Generation Study, led by Genomics England in partnership with the NHS, is aiming to screen 100,000 babies using technology called whole genome sequencing, which detects more than 200 conditions - all of which can be treated.

Sam Coombes, 39, from Walkley, said it was "reassuring" to join the scheme at the Jessop Wing maternity hospital in Broomhall.

Natalie Khoaz, research midwife and principal investigator, added: "Most babies will not be found to have a rare condition, but we are extremely proud to be supporting this pioneering national study."

The study involves the collection of a blood sample from the newborn, usually taken from the umbilical cord, which is then sent for DNA extraction and analysed for genetic changes linked to the diseases.

One baby born at the Jessop Wing last year was diagnosed with a rare eye cancer as part of the study.

The disease could have otherwise gone undiagnosed, because there was no known family history of the condition, and it is hoped the treatment the child is now receiving will save his eyesight.

Coombes chose to have her baby solo with IVF and donor sperm, and is already mother to a two-year-old son from the same donor.

She said: "Often, the earlier you can detect conditions, the better the prognosis, so knowing this could potentially help my baby and others is reassuring.

"They are technically twins, so any testing could potentially help him as well, as you only get basic information about the donor."

Khoaz said: "We would like to thank all our amazing midwives and the dedicated research team for their tremendous efforts in delivering this life-changing research and supporting families throughout the process."

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