Eric Topol September 11, 2022

We’re now well over 20 years since the first human genome was sequenced, but with few exceptions the massive amount of data that has been generated has not been transformed to patient care.

Over 30 million people have had their genome sequenced (exome or whole genome). The NIH All of Us research program released 100,000 whole genome sequences in March. (Disclosure: I am an investigator in the All of Us Research Program and an advisor to Illumina). The emphasis here is on research programs, since there has been very little use of whole genome sequencing in clinical practice.

Well short of a genome sequence is a single nucleotide polymorphism (SNP) array, which assesses (genotypes) about 1 million letters of the 3 billion...

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