Whole genome sequencing provides a readout of a person’s entire genetic code and looks for changes that relate to specific health conditions. One family have described how their son’s diagnosis with a rare condition has given them “power” to help their child. Dr Emma Wakeling, consultant in clinical genetics and genomic medicine at Gosh and study lead, told PA: “We were able to really show quite nicely that the diagnostic rate overall is now significantly better in the diagnostic service that we’re running in the NHS through the Genomic Medicine Service. After his diagnosis Nathaniel now has access to specialist care (handout/PA)“Making a diagnosis earlier in life brings so many benefits to children and their families. “Gaining access to genetic testing and receiving a diagnosis can be vital for families to move forward, both practically and emotionally.”
