Genomics: Babies
Lords · Question HL1490 · Tabled 10 Oct 2024 · Department of Health and Social Care · Official record
Answered 18 Oct 2024
Question
Asked by Lord Farmer
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 w
Answer
Answered by Baroness Merron, 18 Oct 2024
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 conditi...