The Generation Study opened in 2024 with an aim of screening 100,000 newborn babies for over 200 actionable conditions. As of August 2026, the study has recruited more than 85,000 babies in England.
Whilst most participants will receive a ‘No Condition Suspected Result’, more than 200 babies so far have received a ‘Condition Suspected Result’ and require confirmatory diagnostic testing.
Where a rare genetic condition is confirmed, care or treatment can be started early, which will hopefully improve outcomes for the baby. Many of the conditions tested for are not currently screened for on the Newborn bloodspot screening programme. For example, a recent participant was found to have the gene change for a condition called adrenoleukodystrophy (ALD), which is not routinely screened for.
To support families who receive a condition suspected result, a group of health visiting leaders across England collaborated with colleagues in Central and South Genomics to develop the Birmingham Pathway, a simple pathway of care which initially guides practitioners to identify families participating in the Generation Study. The pathway then guides practitioners through the steps required where a baby has a condition suspected result and the confirmatory process to confirm whether the baby has the condition or not.
Practitioners in Birmingham health visiting teams identify Generation Study families by asking them about whether they are participating in the study at all Antenatal and New Birth Visits. Participation is then recorded in their clinical records.
For any baby who has a condition suspected, Birmingham’s Health Visiting team is notified by email from the Regional Results Coordinator (RRC). The named health visitor for the baby and family is then made aware, and they are required to acknowledge the information received and support the family accordingly. Once further tests or investigations confirm whether the baby has the condition suspected or not, the named health visitor is then notified by email from the RRC. The RRC is also available to assist health visiting staff with questions as required.
The Birmingham Pathway is open and being implemented for all babies, children and families who are participating. Health visiting staff in Birmingham have attended bespoke training, are enquiring about participation at all early core visits, and are being informed of results for babies via the RRC, once the family has been informed of their result from a hospital specialist.
To learn more about the Generation Study, please click here.