Introduction Video

Video Transcript

Baby Ali has just been born. Before leaving the hospital, an NHS practitioner takes a blood sample from the umbilical cord as part of a new research study.  

A few weeks later, Ali’s parents get a call from a specialist in the NHS. They explain that during the study, they found a change in one of Ali’s genes. It means he might have a rare genetic condition — and he could start having symptoms in a few months if he doesn’t get treatment.

Ali needs a specific test to check if he has the condition. The result confirms his diagnosis. It’s a worrying time, but Ali’s doctors explain that they’ve caught this very early. He gets treatment right away, and he’s unlikely to ever get serious symptoms.

We’re Genomics England, a company owned by the Department of Health and Social Care. We’re working with the NHS on a new research study called the Generation Study. It aims to find out if early genetic testing can help families like Ali’s.  

Back when Ali’s mum was pregnant, she heard about the study from her midwife. It took her some time to decide if she wanted to take part. So she joined a webinar with other parents to find out more.

PETER, A SCEPTICAL PARENT FROM CORNWALL: How will you collect the blood sample? I don’t want my baby to be in pain.

ADVISOR: All it takes is a bit of blood from the umbilical cord shortly after they’re born. Sometimes we’ll need to take a small amount of blood from their heel instead. An NHS practitioner will make sure everything goes smoothly.

PETER: And what do you do with the sample? I don’t want them to be a guinea pig!

ADVISOR: We use the sample to turn your baby’s DNA — their genome — into a digital file. Then, we look for changes in certain genes which might suggest a baby has a rare condition. Any baby could have these, even if there’s no family history. But it’s important to know that this is new research, and we don’t know how well this will work.

PETER: So this is research, not a standard NHS test?

ADVISOR: Yes, it’s a research study — an optional extra, on top of normal NHS testing. But it might become an NHS service in the future.

JANE, A YOUNG PARENT FROM THE NORTH: So if my baby gets this test, will it rule out any sort of genetic condition forever? That’d be such a relief.

ADVISOR: No — this study can’t give a clean bill of health, or look into every type of health issue. It can only flag if your baby is likely to have one of around 200 genetic conditions that appear in childhood, and can be treated. If that happens, the NHS will need to confirm the condition with specific tests. You should always tell your baby’s doctor if you think something is wrong.

ALI’S MUM: My midwife said you keep this data for a long time. Why?    

ADVISOR: That’s right — we keep it for 16 years. During this time, we’ll get regular updates from your child’s NHS patient record. Having this information will help us understand more about the role genes play in health over time. This might allow the development of earlier diagnoses and better treatments for patients in the future.

But we know this data is precious. So only approved scientists and researchers can access it. They could be from hospitals, charities, universities, or pharmaceutical companies.

We’ll always remove your child’s personal details from the data, like their name. And you can ask us to stop accessing the data at any time. When your child is 16, we’ll ask them if they want to stay in the study themselves.

ALI’S MUM: From what I know, medical research like this usually only helps certain ethnicities. How would having my baby in the study help?

ADVISOR: People from all backgrounds are welcome to join this study. But people from Black, Asian, and minority ethnic communities are under-represented in this kind of research. Taking part could make the study more diverse — and help to improve genetic testing for everyone in the future.

VOICE OVER: Only a small number of babies who join the study will have a genetic condition like Ali — about 1 in 100. But taking part could uncover life-changing early treatments for babies in the future.

Thinking of taking part in the Generation Study? There are lots of resources to help you decide if it’s right for you and your family.