Hundreds of patients with rare diseases have been given a diagnosis for the first time, thanks to a study which involved analysing their entire genome.
More than 2,000 families took part and were recruited through the 100,000 Genomes Project, which started in 2013.
Scientists behind it say the approach can lead to better care, more focused treatments and can save NHS resources.
One in four received a new diagnosis, including Terri Hedley, who inherited a kidney condition from her father.
Leslie had endured years of treatment for serious kidney disease which led to two kidney transplants – and was worried that his granddaughter Katie, in addition to his daughter, was going to be affected.
But through sequencing of Leslie and Terri’s whole genome, it was discovered she did not have the kidney problem.
