DNA sequencing to screen for disease

In January, Stephen Kingsmore, chief scientific officer for the National Human Genome Research Institute, reported that he and his colleagues had carried out testing with an Illumina HiSeq 2000 sequencer that not only showed it was possible to identify more than 400 monogenic diseases in one test, but the cost of that test was about the same at that for any one of them.  The technology is available to any reference lab today; it may cost no more than $500/test; and it is a launch pad for personalized medicine.  Kingsmore’s group also reported that several DNA databases for monogenic diseases contain errors.   MORE

Image Credit: Stephen Kingsmore

Illumina HSseq_2000

Image Credit:  Illumina