Genomics England – The Generation Study – CAH included
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 – https://www.genomicsengland.co.uk/
The Generation Study – https://www.genomicsengland.co.uk/initiatives/newborns
Recent Blog Posts
New report highlights access gap for innovative medicines
The CAH Support Group recently provided input into a new Medicines Australia report about access to innovative medicines in Australia. The report, now published, warns that Australian patients are missing access to some innovative medicines available in comparable...
Help Shape New UK Sick Day Guidance for Young People with Adrenal Insufficiency
Young people with adrenal insufficiency (including CAH and Addison's disease) and parents/carers are being invited to help shape new UK-wide resources on sick day rules and emergency management. The project is being led by Edge Hill University in partnership with the...
Article: Adult Quality of Life with CAH
A new study published in Endocrine Connections explores the lived experiences of adults with congenital adrenal hyperplasia (CAH) and the wide-ranging impact the condition can have on quality of life. Through in-depth interviews with adults living with CAH as well as...