Advantages of Whole Genome Sequencing WGS

In a previous article, we explained what whole genome sequencing is and how it works. Here we look at the advantages and disadvantages of whole genome sequencing, with practical advice for working around the disadvantages.

The advantages of whole genome sequencing

Whole genome sequencing (WGS) is helping bring personalized medicine into everyday health. By reading the entire genome, every gene becomes digital data that can be analyzed. That is a large amount of data, and within it sit real opportunities.

Once you have genome sequencing data, it can be analyzed to determine whether you carry variants associated with single gene disorders such as cystic fibrosis or sickle cell anemia. It does not stop there. As bioinformatics has advanced, sequencing findings increasingly help guide treatment for conditions such as certain cancers, and help determine which medications are likely to be safe or unsafe for a given person.

Why is whole genome sequencing so powerful?

Compared with partial DNA technologies such as microarray genotyping, WGS provides far more genetic information because it reads all of the genome rather than selected spots. A typical microarray reads several hundred thousand positions, while WGS reads around 3 billion, which is 100% of your DNA and all of your over 30,000 genes.

Exome sequencing also covers only part of the genome. It focuses on the protein coding regions, which make up roughly 1% of the genome. WGS, by contrast, covers both the coding and noncoding regions, which allows a more complete assessment.

WGS also does a better job identifying copy number variations, rearrangements, and other structural changes. The result is a more thorough analysis with greater predictive potential for rare diseases and for genomic medicine generally.

Not all genome sequencing is the same

Quality varies, and the most important factor is the depth of sequencing, meaning how many times your genome is read. A depth of 30x means your genome is sequenced 30 times, while 5x means it is read only 5 times. Higher depth allows the analysis software to filter out errors and produce a more accurate result.

Our article What is 30x and 0.4x Whole Genome Sequencing? explains depth in more detail and why it is a key factor when comparing sequencing services.

The disadvantages of whole genome sequencing

WGS keeps getting faster, easier, and less expensive, but some practical challenges remain. The main one is interpretation. Many genetic variants are still not fully understood, and many conditions involve multiple genes, so not everything can be predicted from your DNA.

To help with this, we built Genome Explorer, an app that lets you explore the associations between your genetic data and various conditions, traits, and medication responses. It is updated as new research becomes available, so it stays current with the latest findings.

A second challenge is that many healthcare professionals are not trained in interpreting genetic data, which can make it hard to get guidance. For that reason, the Partner Marketplace includes a Genetic Counseling app that lets you discuss your results with a trained professional, so you can make informed decisions.

Finally, storage and analysis can be demanding because a whole genome generates a large volume of data. Sequencing addresses this with free data storage regardless of file size, and multiple upload options to handle large files.

If you are ready to begin, you can get your genome sequenced and start putting your DNA to work for your health.