Personal Genome Project

The Project was initially launched in the US in 2005 and later extended to Canada (2012),{{Cite news|url=https://www.theglobeandmail.com/news/national/time-to-lead/would-you-make-your-dna-and-health-data-public-if-it-may-help-cure-disease/article6090038/|title=Would you make your DNA and health data public if it may help cure disease?|last=Abraham|first=Carolyn| name-list-style = vanc |date=2012-12-07|work=The Globe and Mail|access-date=2018-02-03}} United Kingdom (2013),{{Cite web|url=https://www.theguardian.com/science/2013/nov/07/personal-genome-project-uk-launch|title=Critics urge caution as UK genome project hunts for volunteers|last=Sample|first=Ian| name-list-style = vanc |date=2013-11-07|website=the Guardian|language=en|access-date=2018-02-03}} Austria (2014),{{Cite web|url=https://www.eurekalert.org/pub_releases/2014-11/crcf-gal112514.php|title=Genom Austria launches as a new member of the Personal Genome Project|date=2014-11-25|website=EurekAlert!|publisher=American Association for the Advancement of Science|language=en|access-date=2018-02-03}} Korea (2015){{Cite web|url=http://www.bio-itworld.com/Press-Release/Genome-Korea-in-Ulsan-Launched/|title=Genome Korea in Ulsan Launched|date=2015-11-25|website=Bio-IT World|language=en-us|archive-url=https://web.archive.org/web/20180204020203/http://www.bio-itworld.com/Press-Release/Genome-Korea-in-Ulsan-Launched/|archive-date=2018-02-04|url-status=dead|access-date=2018-02-03}} and China (2017).{{Cite web|url=http://www.frontlinegenomics.com/news/16064/personal-genome-project-expands-china/|title=Personal Genome Project Expands to China|last=Addison|first=Frances| name-list-style = vanc |date=2017-11-03|website=Front Line Genomics|language=en|access-date=2018-02-03}}File:100325 RS88UH 11 qc.gif

The project allowed participants to publish the genotype (the full DNA sequence of all 46 chromosomes) of the volunteers, along with extensive information about their phenotype: medical records, various measurements, MRI images, etc. All data were placed within the public domain and made available over the Internet so that researchers could test various hypotheses about the relationships among genotype, environment and phenotype. Participants could decide what data they are comfortable to publish publicly and could choose to upload additional data or remove existing data at their own convenience.{{cn|date=December 2023}}

An important part of the project was the exploration of the resulting risks to the participants, such as possible discrimination by insurers and employers if the genome shows a predisposition for certain diseases.{{cn|date=December 2023}}

The PGP is establishing an international network of sites, including the United States (Harvard PGP), Canada (University of Toronto / Hospital for Sick Kids), and other countries that adhere to certain "conforming implementation" criteria such as no promise of anonymity and data return.{{cite web|url=http://www.personalgenomes.org/international.html|title=Personal Genome Project}} The Harvard Medical School Institutional Review Board requested that the first set of volunteers include the principal investigator George Church and other diverse stakeholders in the scientific, medical, and social implications of personal genomes, because they were well positioned to give highly informed consent. As sequencing technology becomes cheaper, and the societal issues mentioned above are worked out, it was hoped that a large number of volunteers from all walks of life would participate. The long-term goal was that every person have access to his or her genotype to be used for personalized medical decisions.{{cn|date=December 2023}}

The first ten volunteers were referred to as the "PGP-10". These volunteers were:

1. Misha Angrist, Duke Institute for Genome Sciences and Policy{{cite journal | vauthors = Angrist M, Cook-Deegan RM | title = Who owns the genome? | journal = New Atlantis | location = Washington, D.C. | volume = 11 | pages = 87–96 | date = 2006 | pmid = 16789312 | url = http://www.thenewatlantis.com/archive/11/angristcook-deegan.htm | archive-url = https://web.archive.org/web/20070821060253/http://www.thenewatlantis.com/archive/11/angristcook-deegan.htm | archive-date= 21 August 2007 | url-status = live }} Keith Batchelder, Genomic Healthcare Strategies, Esther Dyson, EDventure Holdings, Rosalynn Gill-Garrison, Sciona, John Halamka, Harvard Medical School, Stan Lapidus, Helicos BioSciences, Kirk Maxey, Cayman Chemical, James Sherley, Boston stem cell researcher, and Steven Pinker, Harvard

In order to enroll, each participant must pass a series of short online tests to ensure that they are providing informed consent.{{cite journal | vauthors = Singer E | title = Your Personal Genome: George Church wants to sequence your genome | date = 6 December 2007 | url = http://www.technologyreview.com/Biotech/19824/ | journal = Technology Review | doi = 10.2172/918689 }} By 2012, 2000 participants had enrolled{{cite journal | vauthors = Ball MP, Thakuria JV, Zaranek AW, Clegg T, Rosenbaum AM, Wu X, Angrist M, Bhak J, Bobe J, Callow MJ, Cano C, Chou MF, Chung WK, Douglas SM, Estep PW, Gore A, Hulick P, Labarga A, Lee JH, Lunshof JE, Kim BC, Kim JI, Li Z, Murray MF, Nilsen GB, Peters BA, Raman AM, Rienhoff HY, Robasky K, Wheeler MT, Vandewege W, Vorhaus DB, Yang JL, Yang L, Aach J, Ashley EA, Drmanac R, Kim SJ, Li JB, Peshkin L, Seidman CE, Seo JS, Zhang K, Rehm HL, Church GM | display-authors = 6 | title = A public resource facilitating clinical use of genomes | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 109 | issue = 30 | pages = 11920–7 | date = July 2012 | pmid = 22797899 | pmc = 3409785 | doi = 10.1073/pnas.1201904109 | doi-access = free }} and by November 2017 10,000 had joined the project.

In July 2014, at the 'Genetics, Genomics and Global Health—Inequalities, Identities and Insecurities' conference, Stephan Beck, the head of the UK arm of this project indicated that they had over 1000 volunteers, and had temporarily paused collection data due to lack of funding. As of November 2016, the pause was still in effect.{{Cite news|url=http://dnadigest.org/dnadigest-interviews-personal-genome-project-uk/|title=DNAdigest interviews Personal Genome Project: UK - DNAdigest.org|last=Kovalevskaya|first=Nadia | name-list-style = vanc |date=2016-11-16|work=DNA digest|access-date=2018-02-03|language=en-US}}

Since 2016, participants of the PGP could choose to obtain their whole-genome sequenced performed for $999.[http://www.prnewswire.com/news-releases/veritas-genetics-launches-999-whole-genome-and-sets-new-standard-for-genetic-testing-300230258.html "Veritas Genetics Launches $999 Whole Genome And Sets New Standard For Genetic Testing"] In the same year Complete Genomics contributed over 184 phased human genomes to the project.{{cite journal | vauthors = Mao Q, Ciotlos S, Zhang RY, Ball MP, Chin R, Carnevali P, Barua N, Nguyen S, Agarwal MR, Clegg T, Connelly A, Vandewege W, Zaranek AW, Estep PW, Church GM, Drmanac R, Peters BA | display-authors = 6 | title = The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes | journal = GigaScience | volume = 5 | issue = 1 | pages = 42 | date = October 2016 | pmid = 27724973 | pmc = 5057367 | doi = 10.1186/s13742-016-0148-z | doi-access = free }}

In February 2018, the results were published of the first 56 Canadian participants who had their whole genome analyzed.{{cite journal | vauthors = Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RK, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WW, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW | display-authors = 6 | title = The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants | journal = CMAJ | volume = 190 | issue = 5 | pages = E126–E136 | date = February 2018 | pmid = 29431110 | doi = 10.1503/cmaj.171151 | pmc = 5798982 }} Several DNA mutations that would have been expected by expert consensus to affect health of the participants had not done so, indicating that getting health data from the human genome was difficult.{{Cite news|url=https://www.theglobeandmail.com/life/health-and-fitness/health/genetic-testing/article37829424/|title=Cracks in the code: Why mapping your DNA may be less reliable than you think|last=Abraham|first=Carolyn | name-list-style = vanc |date=2018-02-03|work=The Globe and Mail|access-date=2018-02-03}}

On March 9, 2017, producers of the popular online brain-training program Lumosity announced they would collaborate with Harvard researchers to investigate the relationship between genetics and memory, attention, and reaction speed.{{cite web | url = https://wyss.harvard.edu/pgp-lumosity/ | date = 10 October 2017 | title = Personal Genome Project-Lumosity Study | work = Wyss Institute | publisher = Harvard University }}{{cite web | first = Eriona | last = Hysolli | name-list-style = vanc | date = 9 March 2017| url = http://news.harvard.edu/gazette/story/2017/03/wyss-institute-harvard-medical-school-collaborate-with-lumosity-in-memory-research/ | title = Brain-training app creators join in the genetics game | work = The Daily Gazette | publisher = Harvard University }}

Scientists at the Wyss Institute for Biologically Inspired Engineering and the Harvard Medical School Personal Genome Project (PGP) planned to recruit 10,000 members from the PGP, to perform a set of cognitive tests from Lumos Labs’ NeuroCognitive Performance Test, a brief, repeatable, online assessment to evaluate participants’ memory functions, including object recall, object pattern memorization, and response times. The researchers would then correlate extremely high performance scores with naturally occurring variations in the participants’ genomes. To validate their findings, the team would sequence, edit, and visualize DNA, model neuronal development in 3-D brain organoids ex vivo, and finally test emerging hypotheses in experimental models of neurodegeneration.{{cn|date=December 2023}}

• Human Genome Project
• Personal genomics

{{Reflist}}

• {{Official site|http://www.personalgenomes.org/}}

Category:Human genome projects

Category:Cohort studies

Category:DNA sequencing