Genomics England – The Generation Study – CAH included

Mar 15, 2024

The Generation Study is being carried out by Genomics England in partnership with the NHS. It is exploring the possible use of genome sequencing in newborn babies to identify a wide range of rare genetic conditions alongside the routine newborn blood spot screening. The study will include 100,000 newborns and the first participants are expected to join the study in the next few weeks. 

As part of the study, Genomics England have created a list of rare conditions and associated genes that they will be looking for – and CAH is included. These conditions are chosen by following four key principles

An extract of the list showing the types of CAH which are included is below:

Condition Group Gene Condition name
Congenital adrenal hyperplasia CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency
Congenital adrenal hyperplasia CYP21A2 *This gene meets the principles to be included, however it is not currently being analysed due to further internal work being required Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Congenital adrenal hyperplasia HSD3B2 Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency

The list is being kept under constant review throughout the study and is subject to change as new evidence emerges. Genomics England is working with the NHS in England to ensure availability of treatments and to confirm that the genome sequencing technology used in the study can reliably identify changes in the genes causing these conditions.  

The results of the study will add to evidence that will inform future decisions on using whole genome sequencing to support newborn screening. This includes using it to accelerate diagnosis and access to treatments for rare conditions.


More information

Genomics England homepage –

The Generation Study –



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