The findings were published in the journal, Nature, by researchers at the National Institute for Health Research (NIHR) BioResource, together with Genomics England, and demonstrated how sequencing the whole genomes of large numbers of individuals in a standardised way through the 100,000 Genomes Project, can improve the diagnosis and treatment of patients with rare diseases.
Principal investigator and professor of Haematology, Andrew Mumford, said the researchers studied the genomes of groups of patients with similar symptoms, affecting different tissues, such as the brain, eyes, kidney, blood, or the immune system, identifying a genetic diagnosis for 60% of individuals in one group of patients with early loss of vision.
“This pioneering study illustrates the power of whole genome sequencing for diagnosis of rare human diseases,” Mumford said.
“The approach developed in this research has paved the way for the flagship 100,000 Genomes Project and the introduction of whole genome sequencing into standard NHS care,” he said.
Principal investigator and professor of Paediatric Renal Medicine, Moin Saleem, who established the UK National Renal Rare Disease Registry, and the national and international NephroS (Nephrotic Syndrome) groups, said previously unobserved genetic differences causing known rare diseases were identified, in addition to genetic differences causing completely new genetic diseases.
“Rare diseases in their entirety are common, in that there are more than 7,000 different rare diseases in total affecting about 7% of the population,” Saleem said.
“Most have a genetic cause, so this research for the first time, brings the most powerful genetic sequencing capabilities to apply across the whole health service, meaning all patients will now have the best possible chance of finding their individual genetic defect,” he said.
In the study, the research team managed to identify more than 172 million genetic differences in the genomes of the patients, many of which were unknown previously, and most of which have no effect on human health.
Using a new analysis method that was developed specifically for the project, the research team identified 95 genes in which rare genetic differences are statistically very likely to be the cause of rare diseases; 79 of these genes have been shown definitively to cause rare diseases.
This study comes amid recent reports genome sequencing, has seen a plummet in price going from $3.7 billion initially in 2001, to below $600 according to a report from SingularityHub.
Illumina, the world’s leading sequencing company, predicts the entire process will soon cost around $100 and be finished within an hour, a sequence of 3.2 billion letters determining hair colour, height, personality, propensity for disease, lifespan and so on.