Ask GNXP – personal genome sequence
In previous 10 Questions, Razib has asked:
If you could have your full genome sequenced for $1000, would you do it? (assume privacy concerns are obviated)
By genotyping ~500,000 tag SNPs, it’s actually possible to approximate a full genome sequence for $1000 using current technologies. So my question(s) is (are): if you could have your genome “sequenced” (to a good approximation) for $1000, would you do it? What would you want to know from the data?
Leave your answers in comments.
Why bother? At some point it will be really useful to have it available, but for the time being, there’s nothing particularly useful I could do with the sequence other than take up hard drive space (or worse, physical space).
As of today, no.
What would it tell me? Perhaps based on my haplotype I have a slightly elevated chance of heart disease? But would that result apply to me? I exercise regularly, eat a healthy diet, take vitamin supplements, and avoid harmful substances. Would my genes together with my lifestyle increase my chance of heart disease significantly? That isn?t clear.
In a decade or so it might be worthwhile to have my haplotype determined.
By then doctors should have a pretty good idea of how well medicines work on different haplotypes. Factors such as liver enzyme level that affect dosage requirements might be strongly correlated with haplotype.
The connection between haplotype and various diseases should be much better established. So preventative measures based on haplotype would be more reasonable. There might also be medicines or supplements targeted to common haplotype ?weaknesses?.
Within two decades or so, haplotype will be far more useful. By then there should be reasonably good models connecting haplotype to phenotype. At that stage, a person could optimize their diet, exercise, supplements, and medicines based on their haplotype. Stem cell treatments should be available so one might choose a stem cell line that best matched one?s haplotype.
I doubt a person would benefit from having their total genome sequenced. Our body cells are continually accumulating mutations. Does it make much difference whether we inherited a rare mutation or whether the mutation occurred during an early developmental stage or occurred later in life in one of our stem cells?
Science would benefit from having many complete genomes. The human population might act as a grand experiment showing connections between genotype and phenotype. Of course most of the important dependencies would have already been established using yeast, fruit flies, and mice.
More useful then complete genome sequencing would be determining gene/protein expression levels in our various tissues. That would indicate important regulatory pathways that were going awry.
Yeah, I second the above comments. Just not that useful yet. Once we’ve done another five to ten years of data crunching it will be possible to get a lot more mileage out of the sequence – and equally important it will probably cost much less.
Yes. I inherited migraines and would like to target drugs at known-broken genes, instead of semi-randomly throwing drugs at the wall and seeing what sticks.
But I’d want to know my homozygous-lethal single base pair mutations (supposedly everyone has three) and you can’t get that from SNP data. Oh and I’d want to know just for the fun of it, not to be all eugenic.
Or wait, can you?
Bellican: ?But I’d want to know my homozygous-lethal single base pair mutations (supposedly everyone has three)?
Do you have a link for the frequency of ?lethal single base pair mutations?? I?d be interested in knowing the distribution of such defects in the general population. This distribution would affect the fertility rate and the miscarriage rate.
I?ve seen estimates that in each new generation an average of three deleterious mutations are generated. (Obviously this doesn?t count mutations that prevented fertilization or embryonic development, as there would be no new generation.)
?Or wait, can you??
Statistically you should be able to determine all of your original alleles. How difficult this would be depends on the sequencing technolgy used.
Dividing cell lines are continually accumulating more mutations. The older we are. the more our cell genomes will diverge from that of the fertilized egg cell.
(A mouse engineered to have a defective DNA repair gene accumulated microsatellite mutations at a high rate. By examining the microsatellites the developmental linage of all the body cells was determined.)