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Pathway Genomics Testing Kit

Pathway Genomics, a new DTC genetic testing company that I discussed earlier at “Pathway Genomics Goes Live,” has begun sending out test kits.  The following quote and picture are from “DishyMix: Susan Bratton Podcasts & Blogs Famous Executives”:

“I Twittered a week or so ago that my friend, Chris D’Eon is a founder of Pathway Genomics and I was going to get my DNA tested. I got a lot of response to that one little Tweet, so I thought I’d share more with you about it.”

Pathway Genomics

Disclosure: I am currently a consultant for Pathway Genomics.

Personal Update:

I also wanted to let everyone know that my second son was born 3.5 weeks ago, and yesterday I graduated from law school.  It’s been a crazy few weeks, and now it’s time to start studying for the NY bar before starting work full-time in the fall.  Wish me luck!

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Knome Lowers Price of Full Genome From $350,000 to $99,000

imageI’ve talked about the personal genomics company Knome here at TGG a number of times.  The company is one of the few, if not only, entity offering customers the opportunity to receive their entire genomic sequence.  After paying 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 (KnomeXplorer).

The Cost of Sequencing Crashes

According to an article at MSN Money entitled “$99,000 to see your future?,” Knome recently lowered the price of sequencing from $350,000 to $99,000.  This isn’t very surprising considering how quickly the cost of sequencing is dropping.

From the article:

“Just to give you some context, the U.S. government finished sequencing the first genome in 2003, and it took 13 years and about $3 billion,” says Jorge Conde, the 31-year-old CEO of Knome. “We’re now at the point that we can do it for $99,000 in three months. Our goal is to eventually be able to offer this to a large segment of the population for around $1,000.” (Just a year ago, Knome was asking $350,000 for its services.)

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TGG Ranked as #9 on ProGenealogists’ List of Top 25 Genealogy Blogs

This has been a great week for The Genetic Genealogist, and I just wanted to send out my gratitude.

First, TGG was included by Chris Dunham of The Genealogue in his list “10 Genealogy Blogs Worth Reading” at Blogs.com!  I’m truly honored to be listed among the other great bloggers in the article.  (Like Chris, I was recently asked to create a Top 10 list which I believe will be posted soon, but my list focuses more on genetic genealogy and personal genomics blogs).

imageAnd second, TGG was listed as #9 on the ProGenealogists list of The Top 25 Genealogy Blogs of 2009!  The rankings were based on “overall content, Technorati rating, and industry experience.”  It is an honor to be included among this group of incredible bloggers.  Be sure to visit the website to check out the other blogs on the list.

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Pathway Genomics Goes Live

imageThe newest entrant in the field of personal genomics has officially gone live.  Pathway Genomics, located in California, uses SNP testing to examine information about Health conditions, Ancestry, Carrier Status, Personal Traits, and Drug Response.  The company collects DNA via a spit kit, and has its own lab on-site:

We decided early on that the surest way to completely secure your information would be to build our own CLIA-certified laboratory. And that’s just what we did. Once we receive your saliva sample in our lab, your DNA never leaves the building. As a matter of fact, we place it in our proprietary DNA Lockbox for safekeeping. No other DNA testing firm offers this level of security. Others send your DNA elsewhere for testing, even to non-secure overseas locations!

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Genome Hacking at The New Scientist

Journalists Peter Aldhous and Michael Reilly write about using DNA obtained from a drinking glass and other sources to “hack” someone’s genome.

In “Special investigation: How my genome was hacked,” the authors use a variety of consumer-available DNA services to prepare and amplify genomic DNA in order to send it away for analysis by deCODEme.  They used deCODEme, it appears, because 23andMe and Navigenics use saliva collection, and “it would be hard to convert [the] amplified DNA sample into a form that closely mimicked saliva.”  They did use 23andMe, however, as a control.  Interestingly, the cost of the entire process was about $1,700 for lab services (preparation and amplification) and $985 for deCODEme’s service.

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The Close Cousins DNA Project – A Request for Help

Chimpanzee

Image by Aaron Logan

Roughly 6 million years ago, the Hominini subtribe of the Hominidae family tree (the so-called “great apes”) diverged into two known branches, with one branch (genus Pan ) resulting in modern-day Chimpanzees and Bonobos, and the other branch (genus Homo) resulting in modern-day humans.

Since there has only been 6 million years of divergent evolution, Chimpanzees/Bonobos and Humans share a great deal of DNA sequence in common (although estimates vary widely and typically depend on what, exactly, is being considered in the comparison).

The Close Cousins DNA Project

On May 31, 2008, the Close Cousins DNA Project was launched by Bill Davenport as a result of a discussion on the Genealogy-DNA mailing list regarding the relatedness of human and chimpanzee Y-DNA.  From the launching post:

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5th International Conference on Genetic Genealogy for Family Tree DNA Group Administrators

On March 14th and 15th of this year, Family Tree DNA hosted the 5th Annual Conference on Genetic Genealogy.  From the press release (pdf):

Each year, world renowned experts in genetics and science present cutting-edge developments and exciting new applications at this two-day educational forum which draws attendees from Family Tree DNA’s Group Administrators in North America and throughout the world. Among the speakers at the upcoming conference will be Dr. Spencer Wells, the director and population geneticist heading the National Geographic’s landmark Genographic Project as well as members of Family Tree DNA’s own highly respected scientific advisory board.

The schedule of the conference can be found here.  Unfortunately, I was not able to attend the conference this year, although I certainly hope to attend the next conference. 

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Visualizing Your Genetic Genealogy

In my genealogical research, I have sometimes found myself missing the trees by focusing on the forest.  I think it happens to many genealogists – we get caught up in the research, the dates, the places, and we forget that there was so much more to people than their vital statistics.

This can happen to genetic genealogists as well.  The connection between the results of a DNA test and the individuals in our tree can be easy to forget and difficult to visualize.  Take the results of an mtDNA test, for example.  The results are obtained from a tiny piece of DNA that has traveled thousands of years (and often thousands of miles) through hundreds of individuals to end up in your cheek cells and on the tip of a swab.  Everyone’s mtDNA is the product of an amazingly rich story that has largely been lost to history.

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Genetic Testing With 23andMe – Ancestry Testing

Yesterday I posted about my recent testing experience with 23andMe, focusing on the health and traits information.  This post examines the genealogical aspects of testing at 23andMe.

Ancestry Information

Although I was interested in the health and traits information, I was most excited about the ancestral information.  23andMe’s test looks at mtDNA, Y-DNA, and autosomal coverage.  I believe that the company is working to report on ancestry of the X-chromosome, but as I have previously reported X-DNA ancestry can be extremely challenging.

This was my second foray into autosomal DNA testing.  In 2003 I purchased an AncestrybyDNA 2.0 test from DNAPrint Genomics.  The test looked at 71 Ancestry Informative Markers (AIMs) to determine percentages of Indo-European, East-Asian, Native-American, and African ancestry.  It is worth noting that before AncestrybyDNA went out of business (more info here), the company was offering more advanced tests that examined as many as 1,700 markers (still far below the number of markers used to quantify percentages at 23andMe and deCODEme).

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Genetic Testing With 23andMe

This is the first entry in a two-part series describing my recent experiences with genetic testing through 23andMe.  Although I was most excited by the genetic genealogy information provided by the results, I thought that readers might be interested in some of the health and trait information as well.  If I forget to discuss something, feel free to ask in the comments and I’ll do my best to respond.

Note that this discussion is limited to a cursory analysis of my results.  Anyone who is considering testing through 23andMe should be aware that scientists are only just beginning to study and understand the connection between genetics and health, and thus the results are not meant to be interpreted as absolutes.  Be sure to analyze your own results with this caveat in mind, and do your own research into the testing process.

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