Incidentalome looming

Sometimes I love being wrong. Fifteen months ago, here, I suggested that by 2018 the cost of obtaining a complete human genetic sequence would decline to the $1,000 level (the first one cost $3 billion).

Now, reading this MSN article, I see the true cost of a genetic sequence has already dropped to around $5,000 (look near the bottom of page 2 for this tidbit). The $1,000 sequence is now within sight, probably by the end of next year I have to guess, and possibly sooner. At this price point we will reach the tipping point, and there will be a flood of genetic data entering our healthcare system, and this can only be helpful. As reported in The Times of London, for example, DNA scan could cut cost of insurance - even if results kept secret.

We should remember that this is not yet a straight line to perfect diagnostics and treatments, because (as I reported in April) the connection between specific genes and disease is becoming less clear right now, not more. However, the availability of massive amounts of genotype data (genetic sequences) linked with phenotype data (what is happening to these bodies, as recorded in EMRs) will likely change medicine more rapidly over the next 10 years than over the last 50.

The incidentalome looms larger than ever.


Gregg Stern said...

So the incidentalome is the large body of unexpected genetic information resulting from the availability of cheap genetic sequencing?

Richard Dale said...

Gregg - I would say the incidentalome is the large body of no-one-is-quite-sure-of-its-significance data from any complete genetic scan. There will be much more of this as genetic scanning becomes cheaper, but if you are rich enough to get a gene sequence today it is already an issue on an individual level.
In aggregate the data is valuable to researchers, and so it is not really incidental (at least in a negative sense). The concern is for the medical anxiety in an individual who has a bunch of data which may or may not indicate disease proclivity (and the fact that no-one knows for sure which).