Showing posts from October 7, 2012

Some issues with direct-to-consumer personal genomics

There are a few issues on the personal genomics boo-hah that I've been meaning to write down, so, time for a brain dump. Context: The cost of sequencing DNA is dropping, fast, companies like 23andme have been offering direct-to-consumer SNP genotyping at affordable prices for quite a while now, and they even recently started offering exome sequencing for around 1000 dollars.

(Explaining the lingo: a SNP is a single nucleotide polymorphism - a single base in the genome where at least 1% of the population under study have a different "letter" than the rest. The exome is the set of all exons in the genome; very roughly speaking, it's the subset of the genome that codes for proteins and functional RNA. That doesn't mean the rest of the genome is junk, but the exome is a handy, sufficiently interesting subset that can already be sequenced at relatively low cost.)
And now, to the issues I mentioned. For me, the two major ones are "Analysis and interpretation" a…