Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium

doi:10.3390/jpm6020014

Review

. 2016 Mar 25;6(2):14.

doi: 10.3390/jpm6020014.

Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium

Michael D Linderman¹, Daiva E Nielsen^{2

3

4}, Robert C Green^{5

6

7

8}

Affiliations

¹ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. michael.linderman@mssm.edu.
² Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA. dnielsen@genetics.med.harvard.edu.
³ Harvard Medical School, Boston, MA 02115, USA. dnielsen@genetics.med.harvard.edu.
⁴ Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. dnielsen@genetics.med.harvard.edu.
⁵ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA. rcgreen@genetics.med.harvard.edu.
⁶ Harvard Medical School, Boston, MA 02115, USA. rcgreen@genetics.med.harvard.edu.
⁷ Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. rcgreen@genetics.med.harvard.edu.
⁸ Partners Personalized Medicine, Cambridge, MA 02139, USA. rcgreen@genetics.med.harvard.edu.

PMID: 27023617
PMCID: PMC4932461
DOI: 10.3390/jpm6020014

Review

Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium

Michael D Linderman et al. J Pers Med. 2016.

. 2016 Mar 25;6(2):14.

doi: 10.3390/jpm6020014.

Authors

Michael D Linderman¹, Daiva E Nielsen^{2

3

4}, Robert C Green^{5

6

7

8}

Affiliations

¹ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. michael.linderman@mssm.edu.
² Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA. dnielsen@genetics.med.harvard.edu.
³ Harvard Medical School, Boston, MA 02115, USA. dnielsen@genetics.med.harvard.edu.
⁴ Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. dnielsen@genetics.med.harvard.edu.
⁵ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA. rcgreen@genetics.med.harvard.edu.
⁶ Harvard Medical School, Boston, MA 02115, USA. rcgreen@genetics.med.harvard.edu.
⁷ Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. rcgreen@genetics.med.harvard.edu.
⁸ Partners Personalized Medicine, Cambridge, MA 02139, USA. rcgreen@genetics.med.harvard.edu.

PMID: 27023617
PMCID: PMC4932461
DOI: 10.3390/jpm6020014

Abstract

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.

Keywords: genomics; personal genome sequencing; population screening; return of results.

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References

1. Green R.C., Berg J.S., Grody W.W., Kalia S.S., Korf B.R., Martin C.L., McGuire A.L., Nussbaum R.L., O’Daniel J.M., Ormond K.E., et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 2013;15:565–574. doi: 10.1038/gim.2013.73. - DOI - PMC - PubMed
1. Church G.M. The personal genome project. Mol. Syst. Biol. 2005;1:2005.0030. doi: 10.1038/msb4100040. - DOI - PMC - PubMed
1. Drmanac R., Sparks A.B., Callow M.J., Halpern A.L., Burns N.L., Kermani B.G., Carnevali P., Nazarenko I., Nilsen G.B., Yeung G., et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science. 2010;327:78–81. doi: 10.1126/science.1181498. - DOI - PubMed
1. Levy S., Sutton G., Ng P.C., Feuk L., Halpern A.L., Walenz B.P., Axelrod N., Huang J., Kirkness E.F., Denisov G., et al. The diploid genome sequence of an individual human. PLoS Biol. 2007;5:14. doi: 10.1371/journal.pbio.0050254. - DOI - PMC - PubMed
1. Wheeler D.A., Srinivasan M., Egholm M., Shen Y., Chen L., McGuire A., He W., Chen Y.-J., Makhijani V., Roth G.T., et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008;452:872–876. doi: 10.1038/nature06884. - DOI - PubMed

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[1] Green R.C., Berg J.S., Grody W.W., Kalia S.S., Korf B.R., Martin C.L., McGuire A.L., Nussbaum R.L., O’Daniel J.M., Ormond K.E., et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 2013;15:565–574. doi: 10.1038/gim.2013.73. - DOI - PMC - PubMed

[2] Green R.C., Berg J.S., Grody W.W., Kalia S.S., Korf B.R., Martin C.L., McGuire A.L., Nussbaum R.L., O’Daniel J.M., Ormond K.E., et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 2013;15:565–574. doi: 10.1038/gim.2013.73. - DOI - PMC - PubMed

[3] Church G.M. The personal genome project. Mol. Syst. Biol. 2005;1:2005.0030. doi: 10.1038/msb4100040. - DOI - PMC - PubMed

[4] Church G.M. The personal genome project. Mol. Syst. Biol. 2005;1:2005.0030. doi: 10.1038/msb4100040. - DOI - PMC - PubMed

[5] Drmanac R., Sparks A.B., Callow M.J., Halpern A.L., Burns N.L., Kermani B.G., Carnevali P., Nazarenko I., Nilsen G.B., Yeung G., et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science. 2010;327:78–81. doi: 10.1126/science.1181498. - DOI - PubMed

[6] Drmanac R., Sparks A.B., Callow M.J., Halpern A.L., Burns N.L., Kermani B.G., Carnevali P., Nazarenko I., Nilsen G.B., Yeung G., et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science. 2010;327:78–81. doi: 10.1126/science.1181498. - DOI - PubMed

[7] Levy S., Sutton G., Ng P.C., Feuk L., Halpern A.L., Walenz B.P., Axelrod N., Huang J., Kirkness E.F., Denisov G., et al. The diploid genome sequence of an individual human. PLoS Biol. 2007;5:14. doi: 10.1371/journal.pbio.0050254. - DOI - PMC - PubMed

[8] Levy S., Sutton G., Ng P.C., Feuk L., Halpern A.L., Walenz B.P., Axelrod N., Huang J., Kirkness E.F., Denisov G., et al. The diploid genome sequence of an individual human. PLoS Biol. 2007;5:14. doi: 10.1371/journal.pbio.0050254. - DOI - PMC - PubMed

[9] Wheeler D.A., Srinivasan M., Egholm M., Shen Y., Chen L., McGuire A., He W., Chen Y.-J., Makhijani V., Roth G.T., et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008;452:872–876. doi: 10.1038/nature06884. - DOI - PubMed

[10] Wheeler D.A., Srinivasan M., Egholm M., Shen Y., Chen L., McGuire A., He W., Chen Y.-J., Makhijani V., Roth G.T., et al. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008;452:872–876. doi: 10.1038/nature06884. - DOI - PubMed

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Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium

Affiliations

Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium

Authors

Affiliations

Abstract

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References

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