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

Fred,

23andMe doesn't give you the info needed to make decisions about cancer treatment.  23andMe genotypes known SNPs, while with cancer most of the mutations are de novo.

What is typically done is either the Foundation Medicine test or exome sequencing.  Foundation Medicine's FoundationOne test sequences 182 genes commonly mutated in cancer.  The test costs ~$6k, and they offer a fast turnaround of 2-3 weeks.

The other option is exome sequencing, where all the protein-encoding regions of the genome are enriched and sequenced.  This is best done for two samples, one tumor and the other normal.  The pair of samples is sequenced so the de novo mutations in all an individual's cells can be told apart from tumor mutations.  The process involves enrichment of exon sequences, next generation sequencing, and then variant analysis.  The market for exome sequencing is complicated right now.  As a research service, the cost is <$1k - $2k per sample.  Providers offering clinical sequencing are new, the cost is higher.  Most clinical exome sequencing currently occurs at research medical centers.  If the doctor is willing to work with you, I would look into nearby medical centers or the providers online.

Cheers,

Jim Lund