Benefits and risks
Benefits
Your baby could get early genetic testing. They will get tested for 200+ rare genetic conditions. It’s rare but possible that we’ll identify a condition early. We’ll share this result as soon as possible. They could then get early treatment, which may help reduce their symptoms, or stop them from becoming ill.
You could help us try to improve treatment for genetic conditions. Taking part helps researchers learn more about the link between genes and health. Their work could help develop new treatments. It could also help us predict or diagnose conditions more quickly in the future.
Risks
Your baby could feel uncomfortable when we collect the sample. If we are not able to collect a sample from the umbilical cord, we will need to prick the baby’s heel with a tiny needle. This could cause them temporary discomfort.
Your baby could get an incorrect result. This study is for research and is not a diagnosis. This means there is a small chance we could get your baby’s result wrong.
You could feel uncertain about results. It might be stressful to wait for results. If we suspect your baby has a condition, they’d need to have follow up appointments with the NHS. This could take some time. Because these conditions are rare, there might not be a lot of information available.
You and your baby could be identified through the data. In rare circumstances, a researcher could match your names to your data. We have safeguards in place which make this very unlikely.
Watch how genetic testing helped Owen
Sarah and Rob, Owens Mum and Dad discuss how genetic testing helped Owen.