why choose whole genome sequencing?

 

Whole genome sequencing is the only genetic test that can pick up all known mutations. Other commonly used genetic tests only test for a limited number of genes and do not provide actionable health information.


Many providers of genetic testing only test for single nucleotide polymorphism (SNP) variants. A SNP only detects whether there is a change in a single letter in your DNA base pairs. This is referred to as genotyping, where only a certain number (1 to 100,000s) of specific DNA changes are assessed. However not all genetic variations are in the form of a SNP variant. They may take on the following four forms:

  • Single nucleotide variants: 
  • Small duplications, insertions, deletions, indels
  • Exon duplications, deletions or gene copy number changes
  • Structural variants

Only whole genome sequencing is able to detect all four types of variants in an individual's genome.


The human genome sequence has about three billion bases, and each cell contains two copies of your DNA sequence, one inherited from your mother and the other from your father.  The entire sequence of your two copies of DNA is decoded. This tells you the order of DNA bases, or letters, over a larger area of the genetic code rather than focusing in on specific locations. In some cases, sequencing is used to look at the genetic code within a single gene. This makes whole genome sequencing far more comprehensive than all other types of genetic testing.


Genomix enables you to get your whole genome sequenced and access more comprehensive information on genetic variants.


Source: Vanderbilt Ingram Cancer Centre, 'My Human Genome: Genetically Informed Cancer Medicine'