The Whole Picture

The clearance of the Illumina MiSeqDx system by FDA has excited clinicians and researchers, the LA Times writes.

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"Healy adds, though, that

"Healy adds, though, that communicating what all this new information means to patients is a challenge."

No kidding. Communicating what all this new "information" means is a challenge to geneticists as well. Just ask 23andMe.

At this point, the current

At this point, the current FDA cleared MiSeqDx benchtop sequencer and reagent set cannot provide whole human genome sequence. It can ACCURATELY sequence a single large human gene locus of say a maybe less than a Mb.
For example the CFTR gene is only 170 kb total in length. The illumina website description of the cleared CFTR gene test device called MiSeqDx Cystic Fibrosis Clinical Sequencing Assay offers the following:
"
Complete View of the CFTR Gene
Capture all variants in the protein coding regions and intron/exon boundaries of the CFTR gene
Accurate Results
Deep coverage (> 3,000×) ensures detection accuracy with a Positive Agreement (PA) of 99.66%*
No Demographic Bias
Sequencing the CFTR gene removes the bias inherent in existing genotyping panels
"