Digest · Gulf Today
Newborn babies screened to identify rare conditions Image source, UHS Image caption, Amy Thorpe is one of the hundreds of mothers whose baby took part By David Gilyeat South of England Women are being encouraged to take part in a study that could help identify more than 200 rare but treatable genetic conditions in newborn babies. The Generation Study led by Genomics England in partnership with NHS England offers genomic sequencing using a small blood sample, usually taken from the umbilical cord shortly after birth. University Hospital Southampton (UHS) is contributing to the scheme that aims to screen 100,000 newborns across England.
Amy Thorpe, one of the hundreds of mothers whose baby took part, said she did so "to help enhance knowledge and support the development of future treatments". UHS said the testing at Princess Anne Hospital is free and safe, and could lead to early diagnosis, earlier treatment, and improved outcomes. Image source, UHS Image caption, Consultants say testing at Princess Anne Hospital could lead to early diagnosis and improved outcomes Parents are introduced to the voluntary study during pregnancy.
"If a possible condition is identified, families are contacted promptly and offered further NHS testing to confirm a diagnosis," UHS said. "Where appropriate, babies can then begin specialist treatment and ongoing support at the earliest possible stage." Dr Gabriella Gazdagh, consultant in clinical genetics at UHS and co-local lead, said: "Although each of the conditions included in the study is rare, collectively they affect many families across the country. "Most newborns in the study won't receive a condition-suspected result, but identifying these conditions as early as possible can make a significant difference, giving babies access to specialist care and treatment before symptoms develop." Image source, UHS Image caption, Hana Young's daughter Tilly had her genome sequenced in a previous study Hana Young, a midwife from Portsmouth, discovered that her daughter Tilly had a rare inherited metabolic disorder when she was five years old through Genomics England's previous 100,000 Genomes Project .
"If Tilly's condition had been identified at birth, much of her disability today could have been prevented through early treatment," she said. "Tilly would have lived a completely different life if her genetic change had been picked up in the Generation Study. "I hope that this new test gives families like mine who have children with treatable conditions a better quality of life and hope." Young said Tilly's condition and outlook had improved over time and with treatment.
"She can't care for herself, but is now full of life and really happy," she said. Thorpe said taking part was "really informative and easy". She added: "We were in control the whole time, with no pressure to take part and no questions unanswered.
"We hope that by taking part in the study others in the future may be better informed to provide care for their newborn." Dr Linden Stocker, consultant in fetal maternal medicine and local lead for the study, said: "We are incredibly grateful to the hundreds of local families who have already chosen to take part in the Generation Study. "Their support is helping us build a better understanding of how genomic medicine could benefit future generations." Get in touch Your Voice
Source: BBC
