Cambridge doctor says genetic study has 'huge potential'
100,000 babies could take part in the Generation Study
A Cambridge doctor who's leading a study into genetic conditions says it has "huge potential" to help find more rare diseases and improve lives.
The Generation Study aims to use whole genome sequencing on 100,000 babies across the country.
It also looks to provide early detection for more than 200 treatable rare genetic conditions, allowing children to receive specialist care and treatment before they develop symptoms.
"The study has a huge potential," Dr Kasia Gajewska-Knapik, a consultant obstetrician at CUH who leads the study in Cambridge, said.
"If we can diagnose diseases very early before they develop, we can prevent and move more towards preventative medicine rather than treatment when the symptoms already occur."
The study - run by Genomics England - has collected samples from around 32,000 newborn babies nationally.
Of these, 30,000 results have been analysed with 70 NHS hospitals taking part.
Study gives 'opportunity of a healthy life'
Dr Gajewska-Knapik said any woman can take part in the research, which includes tests of blood samples from the umbilical cord.
After laboratory tests, this can show any changes in DNA; Dr Gajewska-Knapik said anyone with or without a genetic condition can be screened.
"The fact that we have the diagnosis very early before the symptoms start, means that the symptoms may not develop at all," she added.
"We are giving the opportunity of having a completely normal, healthy life.
"It is anticipated it (the study) will find around 500 to 1,000 babies with a genetic condition; when the condition is treated, (the baby) will either have much less symptoms or nothing at all."