Where the light was
We are going to start hearing stories about people getting their entire genome sequenced. What might these stories miss?
One thing that they might do, is try to interpret the data the same way they did for companies like 23andMe and focus on common variants.
The real story is in the rare alleles. One in ten of us are very affected by these, and the sequencing tests reveal them as long as we are looking for them. Almost all common diseases have a rare allele component to [them]. What happened before is that we went through a fad. Scientists were looking where the light was in the common variants and they mostly ignored rare alleles.
(Hat tip: @DivaBiotech)
I work as an Assistant Professor in the Duke University Institute for Genome Sciences & Policy (although this site and its content are my own).
In 2007 I became the fourth subject in Harvard geneticist George Church's Personal Genome Project. As the PGP moves forward, I am chronicling the dawn of personal genomics, that is, people obtaining their genomic information for whatever reason(s) and figuring out what to do with it. I am interested in the relevant technologies and especially the attendant privacy and other ethical/legal/social issues.
This blog may also discuss some of my non-genome interests or, to paraphrase Dwight Yoakam, "Guitars, Cadillacs, hillbilly music, etc etc."
The header image comes from the Liz Lerman Dance Exchange's multimedia performance piece, "Ferocious Beauty: Genome."