Have you heard of the Generation Study?

Consultant Neonatologist, Chinthika Piyasena talks to us about why she’s excited to be part of a world leading study to screen 100,000 newborn babies for over 200 rare genetic conditions.

In October 2024, The Generation Study officially launched offering women the opportunity to have their newborn baby screened for over 200 rare genetic conditions. Dr Chinthika has been instrumental in bringing the study to Evelina London and she talks to us now about why she’s dedicated so many months to this project.

“I’m thrilled that women who come to St. Thomas’ Hospital to give birth, now have the option to be part of this research which may not only benefit their own babies, but also be transformational in helping medical research.”

What is the Generation Study?

The Generation Study offers whole genome sequencing for newborn babies using blood samples which are usually taken from their umbilical cord shortly after birth.

The sequencing aims to identify treatable, rare conditions shortly after a baby is born rather than when symptoms might appear later in childhood. This means families can access the right support, monitoring, and treatment from the NHS much earlier for these conditions.

Who can take part?

Over 6,000 babies are delivered at St. Thomas’s Hospital in London every year and any woman who is over 16 years old, who has an NHS number, registered with a GP in England and is pregnant with one baby can choose to take part.

Why would people decide to take part?

Obviously the primary reason would be the potential benefit to their baby. By identifying that they may have a rare genetic condition very early on, they can access the right support and treatment much earlier.

The chances of your baby having a rare genetic condition is relatively small, but this project will also appeal to people who are keen to help medical research and generate new knowledge.

Is this different to the heel prick test?

Yes. Almost all newborn babies have the heel prick test which takes a small blood sample from their heel. It’s very accurate but it’s only testing for nine conditions. Genomic technology now means we can screen for many more conditions and it’s exciting that this study will enable us to understand how we can use it for babies.

How do people get involved?

It’s very easy! Right now St. Thomas’ Hospital is one of the few hospitals offering the test, but more hospitals are starting all the time. If you search for Generation Study online, you will see if the hospital you plan to give birth in is part of it. If it is, then register your interest and the Research Team will be in touch.’

After chatting with the Research Team, you will be sent some information and given the chance to ask questions. A specialist Research Midwife could come and meet you during one of your regular antenatal appointments to chat with you or the consent can be recorded online over the phone.

It’s only when you are totally sure, that you then sign up to take part in the Generation Study. Once registered, you’ll receive your welcome pack which will contain the kit that you need to bring with you to hospital when you go into labour.

What happens on the day?

Your notes will be clearly marked to say that you are part of the Generation Study so you don’t have to worry. The Delivery Team will know what to do. When your baby arrives, a small blood sample is taken from the umbilical cord and sent to the lab for testing.

When will I get the results?

The aim is that you will get the results at around two weeks.

For 99% of babies, no condition will be found. Only 1% of the babies tested will have a suspected genetic condition and they will be invited for further testing. It’s expected that less than 1% of tests may also fail for a range of reasons.

What if I am planning a home birth?

Women who plan to  birth at home can still be part of the study as long as they live within the catchment area of St. Thomas’ Hospital. Talk to your Research Midwife who can make the arrangements.

Why is this different from other research projects?

Well firstly, this is a huge research study with hospitals across the country recruiting people to take part. Usually research studies are quite small, often focusing on a very specific group of people. The Generation Study is huge! We’re aiming for 100,000 babies to take part and the results will impact not just them, but also their whole families.

It’s also a long term research study, so we won’t know the full potential of screening babies in this way for many years to come.

For more information about The Generation Study click here.