Around 7 000 children a year in the United Kingdom are born with a genetic condition that can’t be diagnosed. As a result, in 2014, the National Health Service (NHS) England launched the ‘100 000 Genomes Project’. The £300m genomes project has 11 “genomic medicine centres” that have been set up all across England to obtain thousands of patients with rare genetic disorders by the year 2018. The project is currently focused on “five common cancers and 100 inherited conditions that will eventually sequence the genomes – human genetic blueprints – of about 75 000 patients and family members with rare genetic conditions or cancer.”
Two four year old girls who went through rigorous testing at Great Ormond Street Hospital (GOSH) – one of the 11 genomic medicine centres – have become the first children who received diagnoses for their rare conditions, through the mapping of their genetic codes. One of these patients was Jessica Wright from East Sussex who was unstable on her feet and began to suffer from seizures at about one years old. After severe testing, Kate and Simon, Jessica’s parents, were told she has an undiagnosed condition. After the launch of the genome project, Jessica’s parents were thrilled that they could take part, “we had so many tests and we felt like this was our last hope to find out what was wrong with her,” said Kate. Now that the family has a diagnosis they have been able to stabilize Jessica’s condition by ensuring she follows a special diet, which will allow her to reduce her medication and improve her epilepsy.
Professor Lyn Chitty, who is the clinical lead at GOSH for the project, said “the study shows that genomics could change the way we diagnose patients. I hope the positive results will encourage more doctors to refer patients to the project.”
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