Re: [DIYbio] Re: How might one get their genome sequenced, if they can't diy it?

Thanks guys.  My situation is that I don't know which loci I'm interested in.  This is for my mom who has HER2 breast cancer.  I thought some knowledge of her genome could prove useful.  I'd be curious about the HER2 gene itself and any genes for transcription factors that regulate it.  Maybe also genes for proteins that regulate the regulators.  I don't know how to find out what genes those are however.  Maybe no one knows.  I've tried searching through Pubmed for articles, but haven't found anything.  Does anyone know where I could turn to learn such?

Once I did, then the question would become: Are all those loci covered by 23andMe's ~million?  If so and they resume operations I'd be interested.  But I imagine I'm looking for something idiosyncratic.  She doesn't fit the usual HER2 demographic.  So even if 23andMe knows of a locus, or several, that predispose one to such a cancer, it might easily have nothing to do with her case.  I'd be interested in a more personal approach.  Kate, if you could provide contact info or what have you so I can inquire as to Jerry's services that'd be terrific.

I'm a little bemused by 23andMe's approach.  It seems both too broad and too narrow.  I imagine they chose the loci they did because something was known about the variability at each and what it meant as far as predispositions to what qualities.  That was believable when I thought they did a mere 200 sites, but a million!?  Can there really be that many about which we have such knowledge?  Also, with such extensive analysis, would it be so much more difficult to sequence an entire genome for someone and thereby cover the possibility of idiosyncrasy which I, and presumably most anyone, would want?  Is there even such a thing as a consensus human genome for comparison?  By that of course I mean the whole genome, not just consensus sequences for particular genes.

Comments anyone?  Thank you so much!!!

Fred