Researchers from University of Leipzig Medical Center have co-published a new study on the benefits of genome sequencing for genetic testing.

Genetic mutations in human DNA can lead to serious disorders that cause disease and disability. A procedure called ‘exome sequencing’ can be used to test for these disorders, but in two-thirds of cases this method doesn’t lead to a diagnosis. Together with partners from Harvard and MIT, scientists from Leipzig University wanted to find out if a method called ‘genome sequencing’ might be able to bridge this diagnostic gap.

The Institute of Human Genetics in Leipzig studied families with suspected genetic disease where exome sequencing had failed to provide a diagnosis. Using a method called ‘short-read sequencing’, the families’ genome (i.e. the entire DNA) was cut into billions of small pieces and read. The data gained was analyzed using bioinformatics software and algorithms.

The study, published in The New England Journal of Medicine, came to the conclusion that compared to exome sequencing, genome sequencing provided diagnostic clarity in an additional eight percent of cases. A further advantage of genome sequencing is that new genetic mutations associated with diseases are being documented all over the world. This means that once the genome sequencing data becomes available, it can easily be re-examined. In the future, researchers in Leipzig aim to read more genomes with an even more powerful technique called ‘long-read sequencing’. Their ultimate goal: To help decode all genetic diseases one day.

Learn more at www.nejm.org