The Generation Study: groundbreaking genetic study for newborns

25 April 2025

The Generation Study aims to better understand how we diagnose and treat rare genetic childhood conditions. On National DNA Day (25 April) Natalie Khoaz, Research Midwife and Principal Investigator of the study at Jessop Wing explains how it works

Can you explain in simple terms what the Generation study is?

The Generation study is a long-term research study to help us to understand if we can improve how we diagnose and treat genetic conditions by looking at newborns' DNA. Nationally the programme aims to test 100,000 newborn babies for 200+ rare genetic conditions, with the aim of offering treatment to affected babies early.

Why is this research important?

We hope that by diagnosing those children affected with any of the 200+genetic conditions, and offering early support and treatment, this will result in better health outcomes. This research will also help us to understand the accuracy and acceptability of this test for parents, the feasibility of offering this test to all babies and cost effectiveness.

What does taking part in the study involve?

After the initial consent process has been completed, it will be organised to take an umbilical cord blood sample from the baby at birth to send for genetic testing. If we are unable to get a cord sample, a heel prick sample can be offered. This is a long-term research study (approximately 16yrs), and regular updates from the child’s healthcare record during this time, alongside their genome data, will help to uncover more about the role genes play in health. Genomics England will send regular updates about the study during this time.

But don't all babies have a heel prick test anyway?

Only those babies where an umbilical cord sample has not been taken will be offered a heel prick test. This would need to be offered separately from the newborn screening test which is offered around day five.

When will patients get results?

There is no exact time frame for the result, however Genomics England aim to send the result as soon as possible. You will be informed by email or letter for a condition not suspected result. An NHS specialist will contact families by phone when there is a condition suspected result.

Can pregnant women planning a home birth still take part?

For those planning a homebirth, we need to ensure they have a sample pack prior to the birth, which parents can pick up from the Jessop Wing. The community midwife can offer to take the sample.

How does the Generation study differ from previous research?

This is the first study to offer large scale whole genome sequencing in newborns and screening for 200+ genetic conditions. The aim is to offer this to all ethnic groups who live in England. There are 10 translations of the participant information leaflet to enable those whose first language is not English to read and understand the study and an interpreter can be offered for discussions with the research team.

If you are pregnant and due to give birth at Jessop Wing you can register your interest in the study here: https://www.generationstudy.co.uk/register-your-interest.

Alternatively contact the Jessop Wing Generation Study Team on 0114 226 8333 or via email sth.generationstudy@nhs.net for further information.

< back