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
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Manuel, I’ve been considering getting WGS done, in order to explore a family phenotype, but I’m having some difficulty identifying a low-cost, reliable lab to do it.
The best price I’ve seen is from Dante Labs in Italy (offering BGI 10X sequencing for $600), but they’ve been unable to tell of even a single customer willing to offer a testimonial—are they real or a scam?
Do you know of a WGS service that is genuine and has decent pricing for consumers (not bulk pricing like BGI)?
I’ll want to sequence not only my own genome, but my father’s and some of my siblings, and possibly more distant relatives, so low price matters. I think I may be looking for an idiosyncratic variant, not an already annotated one, so I’d need raw data (fastq, bam, and vcf—though I could produce the bam and vcf myself from the fastq data, if needed), not just the consumer-level analysis.
I have met with the guys from Dante Labs – they seem to provide a reasonable job with their pharmacogenomics panel.
The sequencing is the easy part, the difficult bit is the data management and interpretation. How would you plan to do the interpretation? How would you manage the data? Do you have a robust platform to do this?
Happy to take this conversation to email email@example.com if you wish.