. 2019 Feb 27;11(1):10.

doi: 10.1186/s13073-019-0619-9.

Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium

Emilie S Zoltick^{1

2}, Michael D Linderman^{3

4}, Molly A McGinniss⁵, Erica Ramos⁶, Madeleine P Ball⁷, George M Church^{7

8

9

10}, Debra G B Leonard¹¹, Stacey Pereira¹², Amy L McGuire¹², C Thomas Caskey¹³, Saskia C Sanderson^{4

14}, Eric E Schadt⁴, Daiva E Nielsen^{1

15}, Scott D Crawford¹⁶, Robert C Green^{17

18

19

20}; PeopleSeq Consortium

Affiliations

¹ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, 41 Avenue Louis Pasteur, Suite 301, Boston, MA, 02115, USA.
² Section of Preventive Medicine and Epidemiology, Department of Medicine, Boston University School of Medicine, 801 Massachusetts Avenue, Suite 470, Boston, MA, 02118, USA.
³ Department of Computer Science, Middlebury College, McCardell Bicentennial Hall, Middlebury, VT, 05753, USA.
⁴ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.
⁵ Illumina, Inc, 5200 Illumina Way, San Diego, CA, 92122, USA.
⁶ Geisinger National Precision Health, Geisinger, 6101 Executive Blvd, Suite 110, North Bethesda, MD, 20852, USA.
⁷ Open Humans Foundation, Boston, MA, USA.
⁸ Harvard Personal Genome Project, Harvard Medical School, Boston, MA, USA.
⁹ Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Room 238, Boston, MA, 02115, USA.
¹⁰ Wyss Institute for Biologically Inspired Engineering, Harvard University, 3 Blackfan Circle, Boston, MA, 02115, USA.
¹¹ Department of Pathology and Laboratory Medicine, Robert Larner, M.D, College of Medicine of the University of Vermont, 89 Beaumont Avenue, Courtyard at Given S269, Burlington, VT, 05405, USA.
¹² Center for Medical Ethics and Health Policy, Baylor College of Medicine, One Baylor Plaza, Suite 310D, Houston, TX, 77030, USA.
¹³ Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Mail Stop BCM225, Houston, TX, 77030, USA.
¹⁴ Department of Behavioural Science and Health, University College London, Gower Street, London, WC1E 6BT, UK.
¹⁵ School of Human Nutrition, McGill University, 21111 Lakeshore Road, Ste-Anne-de-Bellevue, Quebec, H9X 3V9, Canada.
¹⁶ SoundRocket, 950 Victors Way, Suite 50, Ann Arbor, MI, 48108, USA.
¹⁷ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, 41 Avenue Louis Pasteur, Suite 301, Boston, MA, 02115, USA. rcgreen@bwh.harvard.edu.
¹⁸ The Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA. rcgreen@bwh.harvard.edu.
¹⁹ Harvard Medical School, Boston, MA, USA. rcgreen@bwh.harvard.edu.
²⁰ Partners HealthCare Personalized Medicine, Boston, MA, 02115, USA. rcgreen@bwh.harvard.edu.

PMID: 30808425
PMCID: PMC6391825
DOI: 10.1186/s13073-019-0619-9

Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium

Emilie S Zoltick et al. Genome Med. 2019.

. 2019 Feb 27;11(1):10.

doi: 10.1186/s13073-019-0619-9.

Authors

Affiliations

¹ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, 41 Avenue Louis Pasteur, Suite 301, Boston, MA, 02115, USA.
² Section of Preventive Medicine and Epidemiology, Department of Medicine, Boston University School of Medicine, 801 Massachusetts Avenue, Suite 470, Boston, MA, 02118, USA.
³ Department of Computer Science, Middlebury College, McCardell Bicentennial Hall, Middlebury, VT, 05753, USA.
⁴ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.
⁵ Illumina, Inc, 5200 Illumina Way, San Diego, CA, 92122, USA.
⁶ Geisinger National Precision Health, Geisinger, 6101 Executive Blvd, Suite 110, North Bethesda, MD, 20852, USA.
⁷ Open Humans Foundation, Boston, MA, USA.
⁸ Harvard Personal Genome Project, Harvard Medical School, Boston, MA, USA.
⁹ Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Room 238, Boston, MA, 02115, USA.
¹⁰ Wyss Institute for Biologically Inspired Engineering, Harvard University, 3 Blackfan Circle, Boston, MA, 02115, USA.
¹¹ Department of Pathology and Laboratory Medicine, Robert Larner, M.D, College of Medicine of the University of Vermont, 89 Beaumont Avenue, Courtyard at Given S269, Burlington, VT, 05405, USA.
¹² Center for Medical Ethics and Health Policy, Baylor College of Medicine, One Baylor Plaza, Suite 310D, Houston, TX, 77030, USA.
¹³ Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Mail Stop BCM225, Houston, TX, 77030, USA.
¹⁴ Department of Behavioural Science and Health, University College London, Gower Street, London, WC1E 6BT, UK.
¹⁵ School of Human Nutrition, McGill University, 21111 Lakeshore Road, Ste-Anne-de-Bellevue, Quebec, H9X 3V9, Canada.
¹⁶ SoundRocket, 950 Victors Way, Suite 50, Ann Arbor, MI, 48108, USA.
¹⁷ Division of Genetics, Department of Medicine, Brigham and Women's Hospital, 41 Avenue Louis Pasteur, Suite 301, Boston, MA, 02115, USA. rcgreen@bwh.harvard.edu.
¹⁸ The Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA, 02142, USA. rcgreen@bwh.harvard.edu.
¹⁹ Harvard Medical School, Boston, MA, USA. rcgreen@bwh.harvard.edu.
²⁰ Partners HealthCare Personalized Medicine, Boston, MA, 02115, USA. rcgreen@bwh.harvard.edu.

PMID: 30808425
PMCID: PMC6391825
DOI: 10.1186/s13073-019-0619-9

Abstract

Background: Increasing numbers of healthy individuals are undergoing predispositional personal genome sequencing. Here we describe the design and early outcomes of the PeopleSeq Consortium, a multi-cohort collaboration of predispositional genome sequencing projects, which is examining the medical, behavioral, and economic outcomes of returning genomic sequencing information to healthy individuals.

Methods: Apparently healthy adults who participated in four of the sequencing projects in the Consortium were included. Web-based surveys were administered before and after genomic results disclosure, or in some cases only after results disclosure. Surveys inquired about sociodemographic characteristics, motivations and concerns, behavioral and medical responses to sequencing results, and perceived utility.

Results: Among 1395 eligible individuals, 658 enrolled in the Consortium when contacted and 543 have completed a survey after receiving their genomic results thus far (mean age 53.0 years, 61.4% male, 91.7% white, 95.5% college graduates). Most participants (98.1%) were motivated to undergo sequencing because of curiosity about their genetic make-up. The most commonly reported concerns prior to pursuing sequencing included how well the results would predict future risk (59.2%) and the complexity of genetic variant interpretation (56.8%), while 47.8% of participants were concerned about the privacy of their genetic information. Half of participants reported discussing their genomic results with a healthcare provider during a median of 8.0 months after receiving the results; 13.5% reported making an additional appointment with a healthcare provider specifically because of their results. Few participants (< 10%) reported making changes to their diet, exercise habits, or insurance coverage because of their results. Many participants (39.5%) reported learning something new to improve their health that they did not know before. Reporting regret or harm from the decision to undergo sequencing was rare (< 3.0%).

Conclusions: Healthy individuals who underwent predispositional sequencing expressed some concern around privacy prior to pursuing sequencing, but were enthusiastic about their experience and not distressed by their results. While reporting value in their health-related results, few participants reported making medical or lifestyle changes.

Keywords: Genomics; Personal genome sequencing; Public health; Return of results; Test utility.

PubMed Disclaimer

Conflict of interest statement

Ethics approval and consent to participate

The Partners HealthCare Human Research Committee and the Baylor College of Medicine Institutional Review Board approved the entire study. Informed consent was obtained electronically from participants. Our study conforms to the Declaration of Helsinki.

Consent for publication

Not applicable.

Competing interests

MAM is a paid employee and shareholder of Ilumina, Inc. ER is a former employee of Illumina, Inc., and is an advisor and shareholder of doc.ai. GMC has advisory roles and research sponsorships from several companies (http://arep.med.harvard.edu/gmc/tech.html). EES is CEO of Sema4. SDC is the owner and CEO of SoundRocket, the company that conducted the data collection. RCG receives compensation for speaking or consultation from AIA, Helix, Ohana, Prudential, and Veritas, and is co-founder and advisor to Genome Medical, Inc. All other authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

**Fig. 1**
PeopleSeq Consortium enrollment and data collection

**Fig. 2**
Motivations and concerns when deciding to pursue personal genome sequencing. a Motivations for pursuing personal genome sequencing. The light gray indicates the percentage of participants who endorsed the motivation as being somewhat important, and the dark gray indicates the percentage of participants who endorsed the motivation as being very important. b Concerns participants had when deciding to pursue sequencing. The light gray indicates the percentage of participants who reported being somewhat concerned about the issue, and the dark gray indicates the percentage of participants who reported being very concerned about the issue. Motivations and concerns were reported on the pre-disclosure and catch-up surveys. Percentages are not all based on denominator of 543 because of missing responses to some survey items. The percent of missing responses ranges between 3.3–23.9% (median = 4.4% missing)

See this image and copyright information in PMC

References

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1. Green RC, Rehm HL, Kohane IS. Clinical genome sequencing. In: Ginsburg GS, Willard HF, editors. Genomic and personalized medicine. 2. San Diego: Academic Press; 2013. pp. 102–122.
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Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium

Affiliations

Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium

Authors

Affiliations

Abstract

Conflict of interest statement

Ethics approval and consent to participate

Consent for publication

Competing interests

Publisher’s Note

Figures

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Molecular Biology Databases