Three-year-old Nathaniel’s life ‘transformed’ by improvements in genetic tests

Families of children with rare genetic conditions can get a diagnosis years faster thanks to advances in whole genome sequencing, a study has found.

Whole genome sequencing provides a readout of a person’s entire genetic code and looks for changes that relate to specific health conditions.

Now researchers have found that advances in the field over just a few years have led to families getting answers sooner.

And more children are also receiving a diagnosis, they found.

One family have described how their son’s diagnosis with a rare condition has given them “power” to help their child.

Three-year-old Nathaniel Clayton started having problems with his vision when he was just six months old.

After numerous appointments medics had advised that a small part of Nathaniel’s genetic code sho