The $1,000 Genome by the End of 2009?

On December 30th, 2007, I blogged the following:

“[A]ffordable whole-genome sequencing is getting closer and closer every day (my prediction – which is based solely on my own educated guess – is that I will be able to sequence my entire genome for $1,000 or less by the end of 2009).”

It was pretty bold at the time, and I’ve since wondered if I was too optimistic, but now comes news that at least one other person agrees with my prediction.  Harvard professor and genetics researcher George Church – also principal investigator for the Personal Genome Project (PGP) – stated at two conferences, one last week and one this week, that by mid-October of 2008, 36-fold coverage of the human genome will be available for $5,000.  Church went on to say that the $1,000 human genome will be available by the end of 2009. ... Click to read more!

Gene Genie #37: Human Genomes Are a Dime a Dozen

image Welcome to the September 14, 2008 edition of Gene Genie!  Bloggers have begun to pick up posting with the end of summer, and it seems like everyday there’s a bunch of new interesting posts about the human genome.

96well at Reportergene presents “Trends in development of reporter genes.”  Reportergene is also looking for bloggers/reporters to join the blog’s community and help create the “main repository of news and tools for reportergenomists.”  See here for more information.

fightingfatigue presents » Have Japanese Researchers Found Diagnostic Tool for ME/CFS? posted at Fighting Fatigue.  According to a study discussed in the article, there might now be a test able to diagnose Chronic Fatigue Syndrome. ... Click to read more!

Follow-Up to 23andMe’s Price Drop

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Yesterday I wrote about 23andMe’s decision to lower their price to $399 (down from $999) while adding more genealogically-relevant SNPs and partnering with Ancestry.com.  Although I don’t have any further information about the new SNPs, I’ve seen a couple of interesting articles about the price drop around the blogosphere.

Aaron Rowe at Wired science writes “Human Genetics is Now a Viable Hobby.”  He notes that the new price is “well within the reach of cash-strapped grad students, frugal genealogy buffs and other not-so-early adopters.”  The comment thread is an interesting read as well.

“Cheap as chips”

Daniel MacArthur of Genetic Future writes “Cheap as chips: 23andMe slashes the price of personal genomics” at his new scienceblogs location.  Daniel also notes that the updated product “will certainly be popular with genetic genealogists” because of the addition of Y-DNA and mtDNA SNPs, and agrees with my hypothesis that other companies will follow suit and lower their prices.  Daniel also mentions the Personalized Medicine Collaborative (PMC) at the Coriell Institute for Medical Research, which is offering free personal genome scans to 10,000 individuals this year. ... Click to read more!

23andMe Lowers Price to $399 and Adds More Genealogical SNPs

logo 23andMe just announced that the price of their service has dropped from $999 to $399.  According to an article in the San Francisco Chronicle, the company lowered the price of testing to attract more customers and increase the size of their database.  The article maintains that 23andMe will still bring in profit from the lower membership price, which is made possible by a “new, higher-density gene-scanning chip made by Illumina Inc. of San Diego.”  From the press release:

“The new Beadchip, called the HumanHap550-Quad+, makes use of a four-sample format. 23andMe also has added improved custom content to the new Beadchip, which will include a broader range of Single Nucleotide Polymorphism (SNP) variations and rare mutations not found on the previous Beadchip, thereby providing more relevant data on published associations, as well as maternal and paternal ancestry.” ... Click to read more!

Knome Delivers First Genomic Sequencing

Knome, a personal genomics company that launched within the past year, has just delivered the first genomic sequencing to customers according to a report in the MIT Technology Review.

After paying $350,000 for sequencing, customers receive their genetic sequence on an 8-gigabyte USB drive in an engraved silver box.  The USB is encrypted and contains special genome browsing software.

For the first time in history, it is unclear how many complete human genomes have been sequenced by scientists.  Prior to Knome, we knew exactly how many had been completed.  Now, and probably ever after, genomes will be sequenced and analyzed without all the typical fanfare and press releases.  Instead of just 2 or 3 genomes, there will soon be tens of genomes, then hundreds, and then thousands. ... Click to read more!

Interview with Forensic Genealogist Colleen Fitzpatrick, Ph.D. Part II

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Yesterday I posted the first part of a two-part interview with Colleen Fitpatrick, a forensic genealogist.  In that interview, we discussed Colleen’s participation in a project to identify the remains located at a military crash site from 1948.

Today, we discuss her work on identifying the Titanic’s Unknown Child, among other projects.

The Genetic Genealogist:  On April 17, 1912, two days after the RMS Titanic sank in the North Atlantic, the salvage vessel Mackay Bennett discovered the body of a young boy. The sailors paid for a monument, and the boy was buried in Fairview Lawn Cemetery in Halifax, Nova Scotia. In 2008, after an initial false identification based on dental records, the boy was identified as Sidney Leslie Goodwin. You were part of the team that identified Sidney. Can you tell us about that experience? ... Click to read more!

Interview With Forensic Genealogist Colleen Fitzpatrick, Ph.D.

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Colleen Fitzpatrick, Ph.D. is one of the most recognizable names in the field of forensic genealogy.  She has authored two books entitled Forensic Genealogy and DNA & Genealogy, and continues to make headlines in this fascinating field.  Here is just an excerpt from her biography, located at her website:

“Colleen Fitzpatrick, Ph.D., is the author of two of the best-selling books in genealogy.  Forensic Genealogy has been widely recognized for its innovative forensic science approach to genealogical research.  She has been featured on NPR’s Talk of the Nation radio program (July 2005), and has written cover articles for Internet Genealogy (June 2006), Family Tree Magazine (April 2006) and Family Chronicle (October 2005).  Colleen writes a regular column for Ancestry magazine.” ... Click to read more!

The Confucius Genealogy Compilation Committee Rejects DNA Testing

iStock_000002679865XSmallSee the new article at Seed Magazine “Inheriting Confucius,” which discusses efforts to generate a family tree containing the 2 million+ descendants of Confucius.

Kong De-Yong, a 77th(!) generation descendant of Confucius, has been compiling the tree for the last 10 years.  Although the Committee is accepting submissions from women and other previously excluded groups, it is not accepting DNA contributions.  According to the article, this “hints at the limits of Chinese engagement with the age of genomics, and demonstrates how high cultural stakes can constrain science.”  Unfortunately, as the author of the article suggests, many people might be afraid of the results of such DNA testing: “Given the potential implications of genetic knowledge for long-presumed members of the [Confucius] family, they think it better not to know.” ... Click to read more!

Interesting News in the World of Genetic Genealogy

Genetic Genealogy

Technology Review, an MIT publication, has an article entitled “Genealogy Gets More Precise: Rapidly growing databases enable a more complete picture of one’s ancestry.“  The article, which is relatively balanced, discusses some of the benefits and challenges associated with genetic genealogy testing.

Also check out the article and video “Mapping Out a Nascent Market” at boston.com, which is directed towards personal genetic companies such as deCODEme, 23andMe, Navigenics, and Knome.

And lastly, scientists have sequenced and recreated the Neanderthal mtDNA genome.  For more information see john hawks weblog, Genetic Archaeology, Genea-Musings (with a humorous twist), Anthropology.net, and The Spittoon.  The original article is in Cell.  Turns out there are roughly 206 differences between the CRS (the Cambridge Reference Sequence, the mtDNA to which all human mtDNA is compared) and Neanderthal mtDNA; 195 transitions and 11 transversions. ... Click to read more!

Genetic Genealogy Patents – A Brief Review

Yesterday, DNA Heritage issued a press release (reproduced below) regarding an opinion issued by the UK Intellectual Property.The opinion (available here) was the result of inquiry into whether claims 4-7 of a 2004 patent in England are valid.The patent, held by Bryan Sykes of Oxford Ancestors, was issued in 2004 and is directed at creating and using a database of Y-DNA haplotype information to examine surname relationships and determine the likelihood of common ancestry between individuals.The UK IPO’s opinion holds that the claims are invalid because they are either not novel, or did not require an inventive step (i.e., they were obvious).Most intellectual property offices, such as those in the UK and the US, require that an invention at least be novel and nonobvious. ... Click to read more!