Exciting news. Both XLP1 and XIAP have been included in the forthcoming 'Generation Study' here in the England & Wales.
The Generation Study is an NHS-embedded research study which will explore the benefits, challenges and practicalities of sequencing and analysing newborns’ genomes. The study will sequence and analyse the genomes of 100,000 newborn babies in the UK. It is a hybrid clinic-research study that aims to generate evidence on whether whole genome sequencing can be used to screen newborns for rare genetic conditions, and to assess the feasibility of doing this within the NHS.
Whilst both XLP1 and XIAP have an incidence of around 1 in a million (so it's unlikely in this study that an XLP affected newborn will be found) the implications are profound. As the Generation Study will be looking at 223 condition and over 500 genes (provisional list) the potential for providing new parents with the option of such a screening at birth will mean that many more cases of rare disease will be found early allowing for early intervention can be critical.
Certainly for diseases like XLP, that have an average onset age of 4 years old, this could make a tremendous advantage for early treatment.
For more information please visit Genomics England web site.