$1000 genome sequence actualy costs $15,000 and misses perhaps 20% of known inherited disease genes

Illumina MiSeq 

Clinical Whole Genome Sequencing: Not Quite Ready for Prime Time?
[Via DNA Science Blog]

When I posted “Why I Don’t Want to Know My Genome Sequence here in November 2012, I got a lot of grief. Still do.

Now researchers at Stanford University have put whole genome sequencing (WGS) of genetically healthy folks to a limited but telling test, and the results appear in this week’s Journal of the American Medical Association. (My version’s at Medscape.)

I can’t improve on the clear and compelling language of the JAMA article:

“In this exploratory study of 12 volunteer adults, the use of WGS was associated with incomplete coverage of inherited disease genes, low reproducibility of genetic variation with the highest potential clinical effects, and uncertainty about clinically reportable WGS findings.”

I’m not surprised. DNA science, any science, is by nature uncertain.

[More]

One of the reasons we are not yet to the point of sequencing everyone’s genome is not due to the ability to generate the sequence data.

It comes from assembling the individual DNA sequences of each patient and annotating just what genes are there, in what forms and doing what.

This is what adds so much cost to getting a detailed genome report for each patient.

We will get there. It’ll just take a little more time.

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