The Generation Study is exploring the effectiveness of whole genome sequencing to identify and treat 200 rare genetic conditions in newborns. By reading DNA like a barcode, this approach aims to provide early diagnosis and treatment, potentially slowing the progression of diseases and improving the quality of life for affected children.
The Rosie Hospital, part of Cambridge University Hospitals, was among the first NHS trusts to participate in this innovative research. Led by Genomics England in collaboration with the NHS, the study will screen up to 100,000 newborns across England.
Newborns will be offered whole genome sequencing using blood samples typically taken from the umbilical cord shortly after birth. The goal is to identify treatable conditions early, often before symptoms develop, ensuring that families receive appropriate support and treatment much sooner.
Early intervention can prevent long-term health issues, reduce hospital visits, and help children lead healthier lives. Expectant parents will be informed about the study, and those interested will have detailed discussions with a research midwife about participation.
After birth, NHS healthcare professionals will confirm parents’ consent and collect a blood sample for sequencing. The results will be reviewed by NHS genomic scientists, with findings shared with parents within 28 days if a condition is suspected, or within a few months if no issues are detected.
If a treatable condition is identified, families will be provided with further tests and ongoing support from the NHS. Laura, from Cambridge, was one of the first to participate in the study before the birth of her daughter, Cassie. She shared, “It’s exciting to take part in this important research. Cassie’s results came back a few weeks later, and we learned she didn’t have any of the 200 conditions.”
In the UK, thousands of children are born each year with treatable rare conditions, often diagnosed after symptoms appear. The NHS’s blood spot screening, which tests for nine serious health conditions, is not replaced by the Generation Study. It’s crucial that all babies, regardless of participation, still undergo this routine screening.
The Generation Study aims to extend genetic testing to uncover hundreds more treatable diseases in newborns. For instance, Sarah Everitt’s son, Owen, was diagnosed with a rare genetic condition called Resistance to Thyroid Alpha. She and her family are now supporting the Cambridge Children’s Hospital, which will integrate genomic research with physical and mental healthcare.
As part of the study, NHS teams will guide families on managing conditions like osteogenesis imperfecta, where specific handling techniques can prevent bone damage in newborns. Additionally, the study contributes to broader healthcare research, exploring how genetic data can predict, diagnose, and treat future illnesses.
The Generation Study has been developed with input from the public, healthcare professionals, and families affected by rare conditions. It represents a significant step forward in genomic medicine, which could revolutionize how we approach healthcare for future generations.
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