Question to the Department of Health and Social Care:

To ask His Majesty's Government why the Genomics England and NHS England ‘Generation Study’, offering 100,000 newborns whole genome sequencing after birth to diagnose and support a number of genetic conditions, does not include 22q11.2 deletion syndrome which meets the four requisite principles for inclusion.

The Generation Study screens for over 200 conditions which were selected on a set of four principles. The expression, or penetrance, of 22q11.2 deletion syndrome is incomplete, meaning that some people with the syndrome may have no features of the condition. For this and many other conditions, including other microdeletion and microduplication syndromes, Genomics England has taken a conservative approach when applying the four principles, selecting only those conditions where penetrance is high and where treatment must be initiated very early in essentially all cases. Genomics England will review and add conditions during the course of the programme, and will publicise information about any review.