Genome sequencing is enabling a number of patients with rare disease to get a diagnosis, the Financial Times reports. Some 80 percent of rare diseases have a genetic component, it adds.
For instance, it notes that MRIs, EEGs, and lumbar punctures were unable to get to the bottom of why four-year-old Jessica suffered from epilepsy, delayed development, and more. But after her parents enrolled her in the UK's 100,000 Genomes Project, sequencing of Jessica's and her parents' genes revealed a mutation in the SLC2A1 gene, which encodes a protein involved in sugar metabolism in the brain.
While genome sequencing only gives actionable results 20 percent to 25 percent of the time — Jessica was put on a special diet — just getting any result may provide patients and their families some relief, the Financial Times adds
"Families who have been moving backward and forward within the National Health Service looking for answers, often for years, just want to know the cause of the problem," Genomics England's Mark Caulfield tells FT. "Getting a genomic answer is an enormous leap forward, even if there is no treatment today."