In a recent article, we discussed whole genome sequencing and how it works. In this article, we are going to discuss the advantages and disadvantages of whole genome sequencing technologies, and offer some practical advice for overcoming the disadvantages.
Human whole genome sequencing (WGS) is starting to usher in a new era of personalized medicine to improve public health. By allowing the entire genome of a person to be sequenced, every gene can be turned into digital data for analysis.
While this results in a large amount of data, the genetic variations also result in big opportunities. Once a person has genomic sequencing data, it can be analyzed to easily determine if they carry genome sequence for particular single genetic disorders like cystic fibrosis or sickle cell anemia.
But it doesn’t end there. With advances in bioinformatics, next-generation sequencing findings are starting to guide treatments for common genetic conditions such as cancers (colorectal cancer and melanoma) and are also being used to determine which medications are safe (and which are not) on a person-by-person basis.
When compared with partial autosomal DNA technologies, such as microarray-based autosomal DNA sequencing, genotyping with WGS provides 3,000 times more genetic information due to the fact that it provides data on all six billion base pairs of the human genome.
Similar to partial autosomal tests, exome sequencing is another technique that also only covers a portion of the genome. It focuses on just the protein-coding sequences, which represents only 1% of the genome.
When compared with WGS, exome sequencing is again no match as WGS provides complete coverage of the coding and non-coding regions of the genome, which allows a more comprehensive assessment of the genome.
WGS also offers a better determination of copy number variations, rearrangements, and other structural variations due to it taking advantage of reads longer than 2×100 paired. The results of all of this is a much more thorough genotype and phenotype analysis that can offer significantly more predictive potential for rare diseases and genomic medicine. However, there are disadvantages too.
There are important differences to be aware of that relate to the quality of sequencing. The most important factor is known as the ‘depth’ of sequencing, which refers to how many times your genome will be sequenced. For example, a depth of 30x means your genome will be sequenced 30 times by the sequencing machine while a depth of 5x means your genome will only be sequenced 5x.
The article What is 30x and 0.4x Whole Genome Sequencing? provides additional information about what depth is and why it a key factor for you to consider when comparing genome sequencing services.
While WGS is getting easier, faster, and less expensive for consumers, there are still some practical challenges regarding the interpretation of the data. Since most of the genetic variants in the human genome are still not fully understood, and since many diseases involve multiple genes, not all diseases can be predicted.
Because of this, we built a genetic data analysis app called Genome Explorer that can help you easily explore the association between your genetic testing data and diseases, conditions, traits, and medication reactions. It is continually updated as the newest scientific research becomes available, so it is an excellent way to keep up to date with the latest scientific findings.
Also, most health care professionals are not well trained in interpreting genetic data and so many are unwilling to work with their patients’ DNA results. We recognize this is still a major hurdle for many people when trying to understand their results, which is why we offer a Genetic Counseling app. The app allows you to discuss your DNA sequence results with a trained professional so you can get the kind of guidance you need to make smart decisions.
Finally, storage and analysis can also be particularly challenging since a WGS generates data on such a large scale. But here again, Sequencing.com has you covered. We offer free data storage, no matter how big your data file, and we have multiple DNA upload methods to handle any size file.
So go on, get your genome sequenced, and start outsmarting your genes!