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Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA
Division of Genetics, Department of Medicine, Brigham and Women’s Hospital, Boston, MA 02115, USA
Harvard Medical School, Boston, MA 02115, USA
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
Partners Personalized Medicine, Cambridge, MA 02139, USA
Authors to whom correspondence should be addressed.
Academic Editor: Stephen B. Liggett
J. Pers. Med. 2016, 6(2), 14;
Received: 21 October 2015 / Revised: 9 March 2016 / Accepted: 15 March 2016 / Published: 25 March 2016
(This article belongs to the Special Issue Implementing Personalized Medicine in a Large Health Care System)
PDF [225 KB, uploaded 25 March 2016]


Thousands of ostensibly healthy individuals have had their exome or genome sequenced, but a much smaller number of these individuals have received any personal genomic results from that sequencing. We term those projects in which ostensibly healthy participants can receive sequencing-derived genetic findings and may also have access to their genomic data as participatory predispositional personal genome sequencing (PPGS). Here we are focused on genome sequencing applied in a pre-symptomatic context and so define PPGS to exclude diagnostic genome sequencing intended to identify the molecular cause of suspected or diagnosed genetic disease. In this report we describe the design of completed and underway PPGS projects, briefly summarize the results reported to date and introduce the PeopleSeq Consortium, a newly formed collaboration of PPGS projects designed to collect much-needed longitudinal outcome data. View Full-Text
Keywords: personal genome sequencing; return of results; population screening; genomics personal genome sequencing; return of results; population screening; genomics
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Linderman, M.D.; Nielsen, D.E.; Green, R.C. Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium. J. Pers. Med. 2016, 6, 14.

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