November 2, 2011

Detours on the Road to Personalized MedicineBarriers to Biomarker Validation and Implementation

Author Affiliations

Author Affiliations: Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), Cooperative Studies Program Coordinating Center, VA Boston Healthcare System, Jamaica Plain, Massachusetts (Drs Fiore and D’Avolio); Boston University Schools of Medicine and Public Health, Boston, Massachusetts (Dr Fiore); and Division of Aging, Harvard Medical School and Center for Surgery and Public Health, Brigham and Women's Hospital, Boston (Dr D’Avolio).

JAMA. 2011;306(17):1914-1915. doi:10.1001/jama.2011.1605

The sequencing of the human genome, the ability to perform genome-wide association studies, and the development of high-throughput nucleotide sequencing support the goals of personalized medicine. “Next generation” sequencing platforms now provide much higher resolution of DNA than was possible with microarray-based–single nucleotide polymorphism (SNP) detection. Other breakthrough technologies such as the ability to sequence DNA from single cells, targeted mRNA molecules, and methylated regions of DNA; DNA fragment length analysis; isolation of circulating tumor cells; and the ability to use paraffin-embedded tissue for mRNA sequencing will make genotyping faster, easier, less expensive, better, and ultimately more readily available.

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