Why Whole Genome?

Whole genome analysis is currently the most comprehensive genetic test available. It sequences the vast majority of the genome, encompassing genes, non-coding regions, and regulatory elements. This ensures that no genetic information is missed and provides a dataset that can be reanalysed as academics complete the full picture.

Since it covers the entire genome, whole genome analysis is future-proof. As our understanding of genetics and the significance of specific genetic regions evolves, you won’t need to re-sequence to capture newly discovered variants or genes, it can be simply reanalysed.

Whole genome analysis is not limited to a predefined set of genes or regions. It can identify genetic variants associated with a wide range of diseases, including rare and novel diseases that may not be part of a panel or exome test. This information can be used to identify individuals who are at higher risk of developing these conditions, leading to earlier diagnosis and treatment.

Whole genome sequencing can help avoid the need for multiple, targeted genetic tests and diagnostic procedures. This can reduce the generation of medical waste, such as used test kits, disposable instruments, and biohazardous materials associated with traditional diagnostic methods. By providing comprehensive genetic information in a single test, WGS can help healthcare providers arrive at a more accurate and efficient diagnosis. This can lead to more targeted treatments, potentially reducing the need for extended hospital stays, additional tests, and associated energy consumption.

In cases of undiagnosed or complex genetic diseases, whole genome analysis can reduce the diagnostic odyssey by identifying causative variants in unexpected regions of the genome.

99.7% of people have a genetic variation which alters how they metabolise common medications. By using pharmacogenomic data you can reduce adverse drug reactions by 30%.

https://pubmed.ncbi.nlm.nih.gov/36739136/

WGS can be used for population screening to identify individuals who are at higher risk of developing certain diseases. This can enable targeted prevention efforts, such as early screening and lifestyle interventions, to reduce the incidence of these conditions.

WGS can help identify genetic mutations that can be passed down through families, allowing individuals and families to make informed decisions about family planning and reproductive options.

As with any technology, there are limitations. The scientific community only recently completed the 100% of the human genome. There are still unknowns in the 3.2 billion, 20,000 genes and their non-coding regions actually mean. Certain areas for example AG rich regions can be hard to sequence and some structural variants and copy number variants are difficult to interpret. StoreGene will continue to use the most up-to-date and sophisticated testing and tools available to make the genome actionable.