The ultimate genetic test
Whole Genome Sequencing (WGS) is considered ‘the ultimate genetic test’  as it is of timeless nature (it does not change since you are born) and comprehensive (you test both genes and everything else). Publications suggest that on average a person’s genome has ~4 million point mutations (SNPs) and ~400,000 insertions and deletions with respect to the human genome reference . It is also estimated that 50-100 new mutations occur in each healthy individual , most not affecting critical genes. Of the approximately 20,000 genes the human genome contains, only approximately 4,000 have a known clinical phenotype . Currently in WGS of healthy people we see 2-6 disease risks per person . Approximately 7% of 1,200 Food and Drug Administration (FDA) approved medications are affected by actionable mutations, making it 18% of all outpatient prescriptions . So here there are 6 reasons for having your healthy genome sequenced:
6 reasons to have your healthy genome sequenced
- Variants of unknown significance may be found to a known familial phenotype leading to a new diagnosis within the family
- Learn about carrier status for recessive disorders that may reduce risks of having affected children
- Multiple family members may benefit from learned predispositions
- Exercise personal autonomy to explore one’s genome
- Knowing risk may promote healthy behaviour
- There are laws against genetic discrimination (e.g., GINA)
In essence, if you are healthy most likely you will get a negative result for nearly all conditions, but the average person should have 2-6 disease risks uncovered and some of them might be actionable.
- Lindor, Noralane M. et al. (2017) Whole-Genome Sequencing in Healthy People. Mayo Clinic Proceedings , Volume 92 , Issue 1 , 159 – 172
- Drmanac R, Sparks AB, Callow MJ, et al. (2010) Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science. 2010;327(5961):78-81.
- Campbell CD, Eichler EE. (2013) Properties and rates of germline mutations in humans. Trends Genet. 2013;29(10):575-584.
- Dewey FE, Grove ME, Pan C, et al. (2014) Clinical interpretation and implications of whole-genome sequencing. JAMA. 2014; 311(10):1035-1045.
- Relling MV, Evans WE. (2015) Pharmacogenomics in the clinic. Nature. 2015;526(7573):343-350
Find me on: