I read with great interest this story about how a DTC genetics company sent details to a customer about a genetic variant they thought he had, which if true, would have altered his treatment for Crohn’s disease.  As it turns out, the variant could not be confirmed independently and the correct course of treatment was administered.

There will be much hand-wringing about this, and rightly so.  However, for me, it reveals a fault in the model of how DTC genetics and genomics is done.  What happens is that customers provide DNA, and the genetics company provides SNPs and an interpretation.  Of course there are many steps in between those two points, with uncertainty at each stage, and I think separating the “pipeline” is a better model.

So instead of having an all-in-one package, wouldn’t it be better if we had:

  1. Customer buys (and owns) the raw sequence data for their genome (they may end up owning many, from different times in their life or from different tissues).  As it is relatively unprocessed, this would represent the least biased view of the customer’s genome.
  2. The customer can then purchase analysis of their genome separately; including alignment, variant calling and interpretation.  This step would involve education of the customer that different aligners, variant callers and interpretation services have different strengths and weaknesses, and all come with a level of uncertainty.
  3. Of course, as the software and databases improve, step 2 can be repeated on the same data from step 1 over and over again.  If sequencing improves, step 1 can be repeated.

I think owning your own genome data, and buying services to run on that data, is the best model for DTC genetics/genomics.  How would this have helped Dr J?  Well, owning his own data, and having found out that one interpretation of that data suggested a variant which would seriously affect his Crohn’s treatment, Dr J could simply have bought a second opinion on the same data from a different vendor, who would use slightly different algorithms to determine Dr J’s variants.

Thoughts and comments 🙂