What are the benefits of genome sequencing?
Genome sequencing captures over 85% of a person’s DNA – the most any technology can reliable achieve. Most other genetic testing options focus on a few variants at a time. For patients with hard to diagnose conditions, it often takes repeated rounds of this “panel” approach to find the diagnosis. If the variant is in the regulatory region, and not a gene, it may never be found. Sometimes all the gene-coding regions are assessed via “exome” testing. The exome makes up ~2% of the genome and does not include structural or regulatory variants. Genome sequencing is the only approach that considers all variants in a timely manner.
Additionally, genome sequencing benefits research. Because the entire genome is captured, it is possible to identify new variants for diagnostic testing or even therapy development.