View source for Biology:$1,000 genome

{{short description|Era of predictive and personalized medicine}}
[[File:Cost per Genome.png|thumb|upright=1.5|Evolution of the cost of sequencing a human genome from 2001 to 2021]]

The '''$1,000 genome''' refers to an era of predictive and [[Medicine:Personalized medicine|personalized medicine]] during which the cost of fully [[Biology:DNA sequencing|sequencing]] an individual's [[Biology:Genome|genome]] ([[Biology:Whole genome sequencing#Commercialization|WGS]]) is roughly one thousand USD.<ref>{{Cite journal 
| last1 = Mardis | first1 = E. R. 
| title = Anticipating the 1,000 dollar genome 
| journal = Genome Biology 
| volume = 7 
| issue = 7 
| pages = 112 
| year = 2006 
| doi = 10.1186/gb-2006-7-7-112 
| pmid = 17224040 
| pmc = 1779559
| doi-access = free 
}}</ref><ref>{{Cite journal 
| last1 = Service | first1 = R. F. 
| title = GENE SEQUENCING: The Race for the $1000 Genome 
| doi = 10.1126/science.311.5767.1544 
| journal = Science 
| volume = 311 
| issue = 5767 
| pages = 1544–1''''''546 
| year = 2006 
| pmid = 16543431 
| s2cid = 23411598 
}}</ref> It is also the title of a book by British science writer and founding editor of Nature Genetics, Kevin Davies.<ref>Kevin Davies. ''The $1,000 Genome.'' (New York: Free Press, 2010). {{ISBN|1-4165-6959-6}}</ref> By late 2015, the cost to generate a high-quality "draft" whole human genome sequence was just below $1,500.<ref>{{cite web |url=https://www.genome.gov/sequencingcosts/ |access-date=15 April 2018 |title=The Cost of Sequencing a Human Genome}}</ref>

== 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 [[Biology:Human Genome Project|Human Genome Project (HGP)]], convened by the [[Organization:National Human Genome Research Institute|National Human Genome Research Institute]] at Airlie House in Virginia.<ref>[http://www.genome.gov/10001294 Beyond the Beginning: The Future of Genomics. Meeting webcast. http://www.genome.gov/10001294].</ref> The phrase neatly highlighted the chasm between the actual cost of the [[Biology:Human Genome Project|Human Genome Project]], estimated at $2.7 billion over a decade, and the benchmark for routine, affordable personal genome sequencing.

On 2 October 2002, [[Biography:Craig Venter|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 [[Company:454 Life Sciences|454 Life Sciences]], Solexa, U.S. Genomics, VisiGen and Amersham plc.<ref>Sylvia Pagan Westphal. [https://www.newscientist.com/article/dn2900-race-for-the-1000-genome-is-on.html "Race for the $1000 genome is on." ''New Scientist'' 12 October 2002].</ref><ref>Mark D. Uehling. [http://www.bio-itworld.com/archive/111202/genome "Wanted: The $1000 Genome." ''Bio-IT World'' November 2002] {{Webarchive|url=https://web.archive.org/web/20120104203904/http://www.bio-itworld.com/archive/111202/genome |date=4 January 2012 }}.</ref> In 2003, Venter announced that his foundation would earmark $500,000 for a breakthrough leading to the $1,000 genome.<ref>[http://www.bio-itworld.com/newsitems/2005/oct2005/10-19-05-news-genome-prize "Venter raises stakes for $1,000 genome prize." ''Bio-IT World'' October 2005] {{Webarchive|url=https://web.archive.org/web/20111213015926/http://www.bio-itworld.com/newsitems/2005/oct2005/10-19-05-news-genome-prize |date=13 December 2011 }}.</ref> 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."<ref>NIH press release. [http://www.genome.gov/12513210 "NHGRI seeks next generation of sequencing technologies." 14 October 2004].</ref>

In a January 2006 article in ''Scientific American'' making the case for the [[Biology:Personal Genome Project|Personal Genome Project]], George M. Church wrote

{{quote|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.<ref>{{Cite journal 
| last1 = Church | first1 = G. M. 
| title = Genomes for all 
| journal = Scientific American 
| volume = 294 
| issue = 1 
| pages = 46–54 
| year = 2006 
| url = http://arep.med.harvard.edu/pdf/Church05s.pdf
| pmid = 16468433
 | doi=10.1038/scientificamerican0106-46
| bibcode = 2006SciAm.294a..46C 
| s2cid = 28769137 
}}</ref>}}

In 2007, the journal ''Nature Genetics'' invited dozens of scientists to respond to its 'Question of the Year':

{{quote|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?<ref>Question of the Year. ''Nature Genetics''. http://www.nature.com/ng/qoty/index.html</ref>}}

In May 2007, during a ceremony held at Baylor College of Medicine, [[Company:454 Life Sciences|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.<ref>BCM press release. [http://www.bcm.edu/news/packages/watson_genome.cfm "Nobel laureate James Watson receives personal genome in ceremony at Baylor College of Medicine." 31 May 2007] {{webarchive|url=https://web.archive.org/web/20120206220653/http://www.bcm.edu/news/packages/watson_genome.cfm |date=6 February 2012 }}.</ref> Watson's genome sequence was published in 2008.<ref>{{Cite journal | last1 = Wheeler | first1 = D. A. | last2 = Srinivasan | first2 = M. | last3 = Egholm | first3 = M. | last4 = Shen | first4 = Y. | last5 = Chen | first5 = L. | last6 = McGuire | first6 = A. | last7 = He | first7 = W. | last8 = Chen | first8 = Y. J. | last9 = Makhijani | first9 = V. | last10 = Roth | first10 = G. T.| last11 = Gomes | first11 = X.| last12 = Tartaro | first12 = K.| last13 = Niazi | first13 = F.| last14 = Turcotte | first14 = C. L.| last15 = Irzyk | first15 = G. P.| last16 = Lupski | first16 = J. R.| last17 = Chinault | first17 = C.| last18 = Song | first18 = X.-Z.| last19 = Liu | first19 = Y.| last20 = Yuan | first20 = Y.| last21 = Nazareth | first21 = L.| last22 = Qin | first22 = X.| last23 = Muzny | first23 = D. M.| last24 = Margulies | first24 = M.| last25 = Weinstock | first25 = G. M.| last26 = Gibbs | first26 = R. A.| last27 = Rothberg | first27 = J. M.| doi = 10.1038/nature06884 | title = The complete genome of an individual by massively parallel DNA sequencing | journal =Nature | volume = 452 | issue = 7189 | pages = 872–876 | year = 2008 | pmid =  18421352| bibcode = 2008Natur.452..872W | doi-access = free }}</ref>

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."<ref>Kevin Davies. [http://www.bio-itworld.com/2010/10/01/interpretation.html "The $1,000,000 genome interpretation." ''Bio-IT World'' October 2010].</ref>{{failed verification|date=December 2016}} Washington University's Elaine Mardis prefers "the $100,000 analysis."<ref>{{Cite journal | last1 = Mardis | first1 = E. R. |  title = The $1,000 genome, the $100,000 analysis? | doi = 10.1186/gm205 | journal = Genome Medicine | volume = 2 | issue = 11 | pages = 84 | year = 2010 | pmid =  21114804| pmc =3016626 | doi-access = free }}</ref>

== 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.<ref>Amy Harmon. [https://www.nytimes.com/2008/03/04/health/research/04geno.html "Gene map becomes a luxury item."] ''{{wipe|The New York Times}}'', March 4, 2008.</ref> 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.<ref>Bernadette Tansey. [http://www.sfgate.com/cgi-bin/article.cgi?f=/c/a/2008/03/12/BUTKVINOB.DTL "Applied Biosystems cuts DNA sequencing cost." SF Gate, March 13, 2008].</ref> [[Company:Pacific Biosciences|Pacific Biosciences]] became the latest entrant in what ''The New York Times'' called "a heated race for the '$1,000 genome'".<ref>Andrew Pollack. "The race to read genomes on a shoestring, relatively speaking." [https://www.nytimes.com/2008/02/09/business/09genome.html?pagewanted=all New York Times, February 9, 2008].</ref><ref>{{Cite journal 
| last1 = Wade | first1 = N. 
| title = The quest for the $1,000 human genome: DNA sequencing in the doctor's office? At birth? It may be coming closer 
| journal = The New York Times 
| pages = F1, F3 
| year = 2006 
| pmid = 16874933
}}</ref> In 2009, [[Organization:Stanford University|Stanford University]] professor Stephen Quake published a paper sequencing his own genome on an instrument built by [[Company:Helicos Biosciences|Helicos Biosciences]] (a company he co-founded) for a reported cost in consumables of $48,000.<ref>{{Cite journal | last1 = Pushkarev | first1 = D. | last2 = Neff | first2 = N. F. | last3 = Quake | first3 = S. R. | doi = 10.1038/nbt.1561 | title = Single-molecule sequencing of an individual human genome | journal =[[Engineering:Nature Biotechnology|Nature Biotechnology]] | volume = 27 | issue = 9 | pages = 847–850 | year = 2009 | pmid =  19668243| pmc = 4117198}}</ref> That same year, [[Company:Complete Genomics|Complete Genomics]] debuted its proprietary whole-genome sequencing service for researchers, charging as little as $5,000/genome for bulk orders.<ref>Emily Singer. [http://www.technologyreview.com/biomedicine/21466/ ''Technology Review''. 2008].</ref>

In 2010, [[Company:Illumina|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.<ref>{{Cite journal | last1 = Dewey | first1 = F. E. | last2 = Chen | first2 = R. | last3 = Cordero | first3 = S. P. | last4 = Ormond | first4 = K. E. | last5 = Caleshu | first5 = C. | last6 = Karczewski | first6 = K. J. | last7 = Whirl-Carrillo | first7 = M. | last8 = Wheeler | first8 = M. T. | last9 = Dudley | first9 = J. T. | last10 = Byrnes | first10 = J. K.| last11 = Cornejo | first11 = O. E.| last12 = Knowles | first12 = J. W.| last13 = Woon | first13 = M.| last14 = Sangkuhl | first14 = K.| last15 = Gong | first15 = L.| last16 = Thorn | first16 = C. F.| last17 = Hebert | first17 = J. M.| last18 = Capriotti | first18 = E.| last19 = David | first19 = S. P.| last20 = Pavlovic | first20 = A.| last21 = West | first21 = A.| last22 = Thakuria | first22 = J. V.| last23 = Ball | first23 = M. P.| last24 = Zaranek | first24 = A. W.| last25 = Rehm | first25 = H. L.| last26 = Church | first26 = G. M.| last27 = West | first27 = J. S.| last28 = Bustamante | first28 = C. D.| last29 = Snyder | first29 = M.| last30 = Altman | first30 = R. B.| last31 = Klein | first31 = T. E.| last32 = Butte | first32 = A. J.| last33 = Ashley | first33 = E. A.| title = Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence | doi = 10.1371/journal.pgen.1002280 | journal = PLOS Genetics | volume = 7 | issue = 9 | pages = e1002280 | year = 2011 | pmid =  21935354| pmc =3174201 | doi-access = free }}</ref> In January 2012, [[Company:Life Technologies (Thermo Fisher Scientific)|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.<ref>{{Cite journal 
| last1 = Defrancesco | first1 = L. 
| title = Life Technologies promises $1,000 genome 
| doi = 10.1038/nbt0212-126a 
| journal = Nature Biotechnology 
| volume = 30 
| issue = 2 
| pages = 126 
| year = 2012 
| pmid = 22318022 
| s2cid = 11851834 
| doi-access = free 
}}</ref> Sharon Begley wrote: "After years of predictions that the '$1,000 genome'&nbsp;– a read-out of a person's complete genetic information for about the cost of a dental crown—was just around the corner, a U.S. company is announcing... that it has achieved that milestone."<ref>Sharon Begley. [https://www.reuters.com/article/us-dna-reader-idUSTRE8090B820120110 "Insight: New DNA Reader to Bring Promise." Reuters.com. 10 January 2012].</ref>

In January 2014, [[Company:Illumina|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&nbsp;– Michael Schatz of [[Organization:Cold Spring Harbor Laboratory|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.<ref>{{cite journal|last1=Check Hayden|first1=Erika|title=Is the $1,000 genome for real?|url=http://www.nature.com/news/is-the-1-000-genome-for-real-1.14530|journal=Nature|language=en|doi=10.1038/nature.2014.14530|year=2014|s2cid=211730238 }}</ref> In September 2015, [[Company:Veritas Genetics|Veritas Genetics]] (co-founded by George Church) announced $1,000 full-genome sequencing including interpretation for participants in the [[Biology:Personal Genome Project|Personal Genome Project]].<ref>{{Cite web|title=Your Full Genome Can Be Sequenced and Analyzed For Just $1,000|url=http://www.popsci.com/cost-full-genome-sequencing-drops-to-1000|publisher=PopSci|date=2015-10-01|author=Alexandra Ossola}}</ref>

In April 2017, the newly formed European company Dante Labs started offering the WGS for $900.<ref>{{cite web|url=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|title=Dante Labs Offers EUR 850 Whole Genome Sequencing and Interpretation for the First Time in the World|date=24 April 2017|publisher=PR Newswire|access-date=2 December 2018}}</ref><ref>{{cite web|url=https://www.genomeweb.com/molecular-diagnostics/dante-labs-offers-direct-consumer-hereditary-disease-risk-genome-exome-tests#.XAPugmhKiUl|title=Dante Labs Offers Direct-to-Consumer Hereditary Disease Risk, Genome, Exome Tests in Europe|author=Julia Karow|date=23 May 2017|publisher=GenomeWeb|access-date=2 December 2018}}</ref> In 2017, [[Organization:Beijing Genomics Institute|Beijing Genomics Institute]] began offering WGS for $600.<ref>{{cite news|url=https://www.wired.com/2017/05/chinese-genome-giant-sets-sights-uitimate-sequencer/|title=A Chinese Genome Giant Sets Its Sights on the Ultimate Sequencer|author=Megan Molteni|date=18 May 2017|publisher=Wired|access-date=2 December 2018}}</ref> In July 2018, on Amazon Prime Day, Dante Labs offered it for $349.<ref>{{cite web|url=https://www.prnewswire.com/news-releases/dante-labs-offers-349-whole-genome-sequencing-on-amazon-prime-day-300681487.html|title=Dante Labs Offers $349 Whole Genome Sequencing on Amazon Prime Day|date=16 July 2018|publisher=PR Newswire|access-date=2 December 2018}}</ref> In November 2018, around the time of [[Finance:Black Friday (shopping)|Black Friday]], Dante Labs offered WGS for the first time less than $200,<ref>{{cite news|url=https://www.independent.co.uk/life-style/gadgets-and-tech/news/black-friday-2018-weird-deals-ipad-potty-dna-sequencing-a8647131.html |archive-url=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 |archive-date=1 May 2022 |url-access=subscription |url-status=live|title=Black Friday weirdest deals: iPad potties, twerking robots and DNA sequencing|author=Anthony Cuthbertson|date=23 November 2018|work=The Independent|access-date=2 December 2018}}{{cbignore}}</ref> and [[Company:Veritas Genetics|Veritas Genetics]] for two days for the same price of $199 offered WGS limited to a thousand customers.<ref>{{cite news|url=https://www.wired.com/story/whole-genome-sequencing-cost-200-dollars/|title=Now You Can Sequence Your Whole Genome for Just $200|author=Megan Molteni|date=19 November 2018|publisher=Wired|access-date=2 December 2018}}</ref> In March of the same year, geneticist Matthew Hurles of Wellcome Sanger Institute noted that the private companies, including Illumina,<ref>{{cite news|url=https://www.forbes.com/sites/matthewherper/2017/01/09/illumina-promises-to-sequence-human-genome-for-100-but-not-quite-yet/|title=Illumina Promises To Sequence Human Genome For $100 -- But Not Quite Yet|author=Matthew Herper|date=9 January 2017|work={{wipe|Forbes}}|access-date=2 December 2018}}</ref> are currently competing to reach a new target for WGS of only $100.<ref>{{cite news|url=https://www.ft.com/content/017a3a50-f6f1-11e7-a4c9-bbdefa4f210b|title=Cheaper DNA sequencing unlocks secrets of rare diseases|author=Sarah Neville|date=5 March 2018|work=[[Social:Financial Times|Financial Times]]|access-date=2 December 2018}}</ref> On 18 February 2020, [[Company:Nebula Genomics|Nebula Genomics]] announced that has partnered up with BGI Group to start offering 30x WGS for $299.<ref>{{Cite web|url=https://www.biospace.com/article/releases/nebula-genomics-partnering-with-bgi-sets-industry-standard-by-offering-30x-whole-genome-sequencing-for-299/|title=Nebula Genomics, Partnering with BGI, Sets Industry Standard by Offering 30x Whole-Genome Sequencing for $299|date=2020-02-18|access-date=2022-02-18|website=BioSpace|archive-url=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/|archive-date=2022-01-18|url-status=live}}</ref>

==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."<ref>{{Cite journal | last1 = Kedes | first1 = L. | last2 = Campany | first2 = G. | doi = 10.1038/ng.988 | title = The new date, new format, new goals and new sponsor of the Archon Genomics X PRIZE Competition | journal = Nature Genetics | volume = 43 | issue = 11 | pages = 1055–1058 | year = 2011 | pmid =  22030612| doi-access = free }}</ref> 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".<ref>{{cite web|url=http://www.nbcnews.com/sciencemain/10-million-genomics-x-prize-canceled-outpaced-innovation-8C10990757|title=$10 million Genomics X Prize canceled: 'Outpaced by innovation'|work=NBC News|date=24 August 2013 }}</ref>

== References ==
{{Reflist}}

== Further reading ==
* Misha Angrist. ''Here is a Human Being.'' (New York: HarperCollins, 2010). {{ISBN|0-06-162833-6}}
* Kevin Davies. ''The $1,000 Genome.'' (New York: Free Press, 2010). {{ISBN|1-4165-6959-6}}
* Lone Frank. ''My Beautiful Genome.'' (London: Oneworld, 2011). {{ISBN|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

{{DEFAULTSORT:1000 Dollar genome}}
[[Category:Genomics]]

{{Sourceattribution|$1,000 genome}}