COMMENTARY

10 Tech Advances That Can Change Medicine

Disclosures

December 16, 2016

New Genomics for Cancer Predisposition, Whole-Genome Sequencing

In March 2016, Veritas Genetics announced at our Future of Genomic Medicine conference that they will perform whole-genome sequencing for $999. Although there had been much banter about the $1000 genome for years, this was the first real fulfillment of reaching that threshold, given that the path via Illumina HiSeq X Ten required $10M of machine purchases.

We now know a substantial number of the common variants in genes that predispose one to cancer—both in oncogenes and tumor suppressor genes. For individuals with a family history of cancer, 30 of these genes can now be sequenced by Color Genomics for $249. Several other companies are offering mutation panels or other targeted sequencing to help define increased risk. This could sharpen the use of screening and get us toward the promise of prevention by identifying increased risk long before cancer manifests.

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