K.K. Jain, Textbook of Personalized Medicine, DOI 10.1007/978-1-4939-2553-7_24, 693
© Springer Science+Business Media New York 2015
Chapter 24
Future of Personalized Medicine
Introduction
Several studies of the human genome are still going on and some are planned.
A selection is described briefl y in the following pages.
Ongoing Studies
Personal Genome Project
Achieving personalized medicine will require extensive research on highly re-
identifi able, integrated datasets of genomic and health information. A Personal
Genome Project (PGP) was launched as a sequel of the Human Genome project and
volunteers were recruited to make their own genomic and phenomic data available.
Participants in the PGP choose to forgo privacy via institutional review board-
approved “open consent” process. These resources were planned to include full
(46-chromosome) genome sequences, digital medical records and other medical
information that would become a part of personal health profi le. It also includes
comprehensive data about RNA and protein, body and facial measurements and
imaging such as MRI. Human cell lines representing each subject are deposited in a
repository at the National Institute of Genome Medical Sciences. Details of PGP
can be found at the following web site: http://www.personalgenomes.org/.
The fi ndings after enrollment of more than 1,800 participants, including WGS of
10 pilot participant genomes (the PGP-10), have been published (Ball et al. 2012 ).
The Genome-Environment-Trait Evidence (GET-Evidence) system, which auto-
matically processes genomes and prioritizes both published and novel variants for
interpretation, was introduced. In the process of reviewing the presumed healthy
PGP-10 genomes, the authors found numerous literature references implying
serious disease. Although it is sometimes impossible to rule out a late-onset effect,