$1,000 genome

Era of predictive and personalized medicine The 1000 Genomes Project thumb|upright=1.5|Evolution of the cost of sequencing a human genome from 2001 to 2021.The Cost of Sequencing a Human Genome https://www.genome.gov/sequencingcosts/ www.genome.gov 15 February 2022 en The $1,000 genome refers to an era of predictive and personalized medicine during which the cost of fully sequencing an individual's genome (WGS) is roughly one thousand USD. Mardis E. R. Elaine Mardis Anticipating the 1,000 dollar genome Genome Biology 7 7 112 2006 10.1186/gb-2006-7-7-112 17224040 1779559 free Service R. F. GENE SEQUENCING: The Race for the $1000 Genome 10.1126/science.311.5767.1544 Science 311 5767 1544–1546 2006 16543431 23411598 It is also the title of a book by British science writer and founding editor of Nature Genetics, Kevin Davies.Kevin Davies. The $1,000 Genome. (New York: Free Press, 2010). 1-4165-6959-6 By late 2015, the cost to generate a high-quality "draft" whole human genome sequence was just below $1,500.https://www.genome.gov/sequencingcosts/ 15 April 2018 The Cost of Sequencing a Human Genome History The "$1,000 genome" catchphrase was first publicly recorded in December 2001 at a scientific retreat to discuss the future of biomedical research following publication of the first draft of the Human Genome Project (HGP), convened by the National Human Genome Research Institute at Airlie House in Virginia.Beyond the Beginning: The Future of Genomics. Meeting webcast. http://www.genome.gov/10001294. The phrase neatly highlighted the chasm between the actual cost of the Human Genome Project, estimated at $2.7 billion over a decade, and the benchmark for routine, affordable personal genome sequencing. On 2 October 2002, Craig Venter introduced the opening session of GSAC (The Genome Sequencing and Analysis Conference) at the Hynes Convention Center in Boston: "The Future of Sequencing: Advancing Towards the $1,000 Genome." Speakers included George M. Church and executives from 454 Life Sciences, Solexa, U.S. Genomics, VisiGen and Amersham plc.Sylvia Pagan Westphal. "Race for the $1000 genome is on." New Scientist 12 October 2002.Mark D. Uehling. "Wanted: The $1000 Genome." Bio-IT World November 2002 https://web.archive.org/web/20120104203904/http://www.bio-itworld.com/archive/111202/genome 4 January 2012 . In 2003, Venter announced that his foundation would earmark $500,000 for a breakthrough leading to the $1,000 genome."Venter raises stakes for $1,000 genome prize." Bio-IT World October 2005 https://web.archive.org/web/20111213015926/http://www.bio-itworld.com/newsitems/2005/oct2005/10-19-05-news-genome-prize 13 December 2011 . That sum was subsequently rolled into the Archon X Prize. In October 2004, NHGRI introduced the first in a series of '$1,000 Genome' grants designed to advance "the development of breakthrough technologies that will enable a human-sized genome to be sequenced for $1,000 or less."NIH press release. "NHGRI seeks next generation of sequencing technologies." 14 October 2004. In a January 2006 article in Scientific American making the case for the Personal Genome Project, George M. Church wrote The "$1,000 genome" has become shorthand for the promise of DNA-sequencing capability made so affordable that individuals might think the once-in-a-lifetime expenditure to have a full personal genome sequence read to a disk for doctors to reference is worthwhile. Church G. M. George M. Church Genomes for all Scientific American 294 1 46–54 2006 http://arep.med.harvard.edu/pdf/Church05s.pdf 16468433 10.1038/scientificamerican0106-46 2006SciAm.294a..46C 28769137 In 2007, the journal Nature Genetics invited dozens of scientists to respond to its 'Question of the Year': The sequencing of the equivalent of an entire human genome for $1,000 has been announced as a goal for the genetics community... What would you do if [the $1,000 genome was] available immediately?Question of the Year. Nature Genetics. http://www.nature.com/ng/qoty/index.html In May 2007, during a ceremony held at Baylor College of Medicine, 454 Life Sciences founder Jonathan Rothberg presented James D. Watson with a digital copy of his personal genome sequence on a portable hard drive. Rothberg estimated the cost of the sequence—the first personal genome produced using a next-generation sequencing platform—at $1 million.BCM press release. "Nobel laureate James Watson receives personal genome in ceremony at Baylor College of Medicine." 31 May 2007 https://web.archive.org/web/20120206220653/http://www.bcm.edu/news/packages/watson_genome.cfm 6 February 2012 . Watson's genome sequence was published in 2008. Wheeler D. A. Srinivasan M. Egholm M. Shen Y. Chen L. McGuire A. He W. Chen Y. J. Makhijani V. Roth G. T. Gomes X. Tartaro K. Niazi F. Turcotte C. L. Irzyk G. P. Lupski J. R. Chinault C. Song X.-Z. Liu Y. Yuan Y. Nazareth L. Qin X. Muzny D. M. Margulies M. Weinstock G. M. Gibbs R. A. Rothberg J. M. 10.1038/nature06884 The complete genome of an individual by massively parallel DNA sequencing Nature 452 7189 872–876 2008 18421352 2008Natur.452..872W free A number of scientists have highlighted the cost of additional analysis after performing sequencing. Bruce Korf, past president of the American College of Medical Genetics, described "the $1-million interpretation."Kevin Davies. "The $1,000,000 genome interpretation." Bio-IT World October 2010.December 2016 Washington University's Elaine Mardis prefers "the $100,000 analysis." Mardis E. R. Elaine Mardis The $1,000 genome, the $100,000 analysis? 10.1186/gm205 Genome Medicine 2 11 84 2010 21114804 3016626 free Commercial efforts At the end of 2007, the biotech company Knome debuted the first direct-to-consumer genome sequencing service at an initial price of $350,000 (including analysis). One of the first clients was Dan Stoicescu, a Swiss-based biotech entrepreneur.Amy Harmon. "Gene map becomes a luxury item." The New York Times, March 4, 2008. As the costs of sequencing continued to plummet, in 2008, Illumina announced that it had sequenced an individual genome for $100,000 in reagent costs. Applied Biosystems countered by saying the cost on its platform was $60,000.Bernadette Tansey. "Applied Biosystems cuts DNA sequencing cost." SF Gate, March 13, 2008. Pacific Biosciences became the latest entrant in what The New York Times called "a heated race for the '$1,000 genome'".Andrew Pollack. "The race to read genomes on a shoestring, relatively speaking." New York Times, February 9, 2008. Wade N. The quest for the $1,000 human genome: DNA sequencing in the doctor's office? At birth? It may be coming closer The New York Times F1, F3 2006 16874933 In 2009, Stanford University professor Stephen Quake published a paper sequencing his own genome on an instrument built by Helicos Biosciences (a company he co-founded) for a reported cost in consumables of $48,000. Pushkarev D. Neff N. F. Quake S. R. 10.1038/nbt.1561 Single-molecule sequencing of an individual human genome Nature Biotechnology 27 9 847–850 2009 19668243 4117198 That same year, Complete Genomics debuted its proprietary whole-genome sequencing service for researchers, charging as little as $5,000/genome for bulk orders.Emily Singer. Technology Review. 2008. In 2010, Illumina introduced its individual genome sequencing service for consumers, who were required to present a doctor's note. The initial price was $50,000/person. One of the first clients was former Solexa CEO John West, who had his entire family of four sequenced. Dewey F. E. Chen R. Cordero S. P. Ormond K. E. Caleshu C. Karczewski K. J. Whirl-Carrillo M. Wheeler M. T. Dudley J. T. Byrnes J. K. Cornejo O. E. Knowles J. W. Woon M. Sangkuhl K. Gong L. Thorn C. F. Hebert J. M. Capriotti E. David S. P. Pavlovic A. West A. Thakuria J. V. Ball M. P. Zaranek A. W. Rehm H. L. Church G. M. West J. S. Bustamante C. D. Snyder M. Altman R. B. Klein T. E. Butte A. J. Ashley E. A. Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence 10.1371/journal.pgen.1002280 PLOS Genetics 7 9 e1002280 2011 21935354 3174201 free In January 2012, Life Technologies unveiled a new sequencing instrument, the Ion Proton Sequencer, which it said would achieve the $1,000 genome in a day within 12 months. Defrancesco L. Life Technologies promises $1,000 genome 10.1038/nbt0212-126a Nature Biotechnology 30 2 126 2012 22318022 11851834 free In January 2014, Illumina launched its HiSeq X Ten Sequencer, claiming to have produced the first $1,000 genome at 30× coverage. Some researchers hailed the HiSeq X Ten's release as a milestone – Michael Schatz of Cold Spring Harbor Laboratory said that "it is a major human accomplishment on par with the development of the telescope or the microprocessor". However, critics pointed out that the $10 million upfront investment required to purchase the system would deter customers. Furthermore, the $1,000 genome cost calculation left out overheads, such as the cost of powering the machine.Check Hayden Erika Is the $1,000 genome for real? http://www.nature.com/news/is-the-1-000-genome-for-real-1.14530 Nature en 10.1038/nature.2014.14530 2014 211730238 subscription In September 2015, Veritas Genetics (co-founded by George Church) announced $1,000 full-genome sequencing including interpretation for participants in the Personal Genome Project.Your Full Genome Can Be Sequenced and Analyzed For Just $1,000 http://www.popsci.com/cost-full-genome-sequencing-drops-to-1000 PopSci 2015-10-01 Alexandra Ossola In April 2017, the newly formed European company Dante Labs started offering the WGS for $900.https://www.prnewswire.com/news-releases/dante-labs-offers-eur-850-whole-genome-sequencing-and-interpretation-for-the-first-time-in-the-world-300443895.html Dante Labs Offers EUR 850 Whole Genome Sequencing and Interpretation for the First Time in the World 24 April 2017 PR Newswire 2 December 2018https://www.genomeweb.com/molecular-diagnostics/dante-labs-offers-direct-consumer-hereditary-disease-risk-genome-exome-tests#.XAPugmhKiUl Dante Labs Offers Direct-to-Consumer Hereditary Disease Risk, Genome, Exome Tests in Europe Julia Karow 23 May 2017 GenomeWeb 2 December 2018 In 2017, Beijing Genomics Institute began offering WGS for $600.https://www.wired.com/2017/05/chinese-genome-giant-sets-sights-uitimate-sequencer/ A Chinese Genome Giant Sets Its Sights on the Ultimate Sequencer Megan Molteni 18 May 2017 Wired 2 December 2018 In July 2018, on Amazon Prime Day, Dante Labs offered it for $349.https://www.prnewswire.com/news-releases/dante-labs-offers-349-whole-genome-sequencing-on-amazon-prime-day-300681487.html Dante Labs Offers $349 Whole Genome Sequencing on Amazon Prime Day 16 July 2018 PR Newswire 2 December 2018 In November 2018, around the time of Black Friday, Dante Labs offered WGS for the first time less than $200,https://www.independent.co.uk/life-style/gadgets-and-tech/news/black-friday-2018-weird-deals-ipad-potty-dna-sequencing-a8647131.html https://ghostarchive.org/archive/20220501/https://www.independent.co.uk/life-style/gadgets-and-tech/news/black-friday-2018-weird-deals-ipad-potty-dna-sequencing-a8647131.html 1 May 2022 subscription live Black Friday weirdest deals: iPad potties, twerking robots and DNA sequencing Anthony Cuthbertson 23 November 2018 The Independent 2 December 2018 and Veritas Genetics for two days for the same price of $199 offered WGS limited to a thousand customers.https://www.wired.com/story/whole-genome-sequencing-cost-200-dollars/ Now You Can Sequence Your Whole Genome for Just $200 Megan Molteni 19 November 2018 Wired 2 December 2018 In March of the same year, geneticist Matthew Hurles of Wellcome Sanger Institute noted that the private companies, including Illumina,https://www.forbes.com/sites/matthewherper/2017/01/09/illumina-promises-to-sequence-human-genome-for-100-but-not-quite-yet/ Illumina Promises To Sequence Human Genome For $100 -- But Not Quite Yet Matthew Herper 9 January 2017 Forbes 2 December 2018 are currently competing to reach a new target for WGS of only $100.https://www.ft.com/content/017a3a50-f6f1-11e7-a4c9-bbdefa4f210b Cheaper DNA sequencing unlocks secrets of rare diseases Sarah Neville 5 March 2018 Financial Times 2 December 2018 On 18 February 2020, Nebula Genomics announced that has partnered up with BGI Group to start offering 30x WGS for $299.https://www.biospace.com/article/releases/nebula-genomics-partnering-with-bgi-sets-industry-standard-by-offering-30x-whole-genome-sequencing-for-299/ Nebula Genomics, Partnering with BGI, Sets Industry Standard by Offering 30x Whole-Genome Sequencing for $299 2020-02-18 2022-02-18 BioSpace https://web.archive.org/web/20220118183040/https://www.biospace.com/article/releases/nebula-genomics-partnering-with-bgi-sets-industry-standard-by-offering-30x-whole-genome-sequencing-for-299/ 2022-01-18 live Archon Genomics X PRIZE It was originally announced that the revamped Archon Genomics X PRIZE presented by Medco would hold a $10-million grand prize competition in January 2013 for the team that reaches (or comes closest to reaching) the $1,000 genome. The grand prize would go to "the team(s) able to sequence 100 human genomes within 30 days to an accuracy of 1 error per 1,000,000 bases, with 98% completeness, identification of insertions, deletions and rearrangements, and a complete haplotype, at an audited total cost of $1,000 per genome." Kedes L. Campany G. 10.1038/ng.988 The new date, new format, new goals and new sponsor of the Archon Genomics X PRIZE Competition Nature Genetics 43 11 1055–1058 2011 22030612 free In August 2013, the Archon Genomics X PRIZE was cancelled, as the founders felt it had been "Outpaced by Innovation," and "was not incentivizing the technological changes".http://www.nbcnews.com/sciencemain/10-million-genomics-x-prize-canceled-outpaced-innovation-8C10990757 $10 million Genomics X Prize canceled: 'Outpaced by innovation' NBC News 24 August 2013 References Further reading Misha Angrist. Here is a Human Being. (New York: HarperCollins, 2010). 0-06-162833-6 Kevin Davies. The $1,000 Genome. (New York: Free Press, 2010). 1-4165-6959-6 Lone Frank. My Beautiful Genome. (London: Oneworld, 2011). 978-1-85168-833-3 Additional resources Webcast of James Watson personal genome presentation, 31 May 2007. https://web.archive.org/web/20120206220653/http://www.bcm.edu/news/packages/watson_genome.cfm April 2020 Category:Genomics