The Benefits of Whole Genome Sequencing for Rare Disease Diagnosis
Education & Research Whole gene sequencing allows for a more thorough look at our DNA and what might be causing rare diseases.
Two main genetic testing technologies are used to diagnose rare diseases: whole genome sequencing and targeted panels. Both leverage the latest developments in genetics, namely next generation sequencing.
What are the differences?
Targeted panel sequencing is built to sequence specific parts of our genome, whereas whole genome sequencing sequences the total area. This means the nature of paneling can lead to a “trial and error” scenario. During diagnosis, if the physician doesn’t know what rare disease the patient has, looking at just one specific area of the genome might not yield the answer. Therefore, targeting another proposed area will be necessary.
The next problem faced during paneling is that the parts of your genome that are sequenced are only related to areas which scientific research has already shown to be of a significant importance. But what happens if science doesn’t know about a certain gene or area of interest yet? What happens when a new variant is discovered?
With panel sequencing, unknown areas will remain unknown and patients must purchase and run an entirely new test. With whole genome sequencing, the entirety of the DNA is analyzed once, and a new test isn’t needed every time a new variant is discovered.
Whole genome sequencing can be conducted for less than $500, which is below the cost of some single gene panels.
The coverage whole genome sequencing provides makes it an extremely informative tool. It allows you to continuously learn about new variants in parallel with scientists and run additional analyses on your genomic data in the future. The next time you have the opportunity, choose whole genome sequencing, and you will be choosing an asset that can give back and an asset for life.