Genetic Testing Under the Microscope

Genetic Testing Under the Microscope Genetic testing has once again come under the microscope, triggered by an article in the journal Science: “A Case Study of Personalized Medicine.”

In my opinion, adding to the conversation about genetic testing is always a good thing.

That being said, my biggest complaint with many of these articles (especially in the popular media) is that they tend to lump together every test that examines DNA. There are different types of genetic testing with different levels of quality control, interpretation, etc. The results, scientific background, and effects of tests offered by large-scale genome scanning companies, clinical entities, direct-to-consumer companies, and pharmacogenetic companies are not the same. When dealing with a readership that does not have a background in genetics (which is probably 99% of the readership), the media should take extra care to note these differences. Lumping every DNA test together does little to properly educate the public.

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The New Y-Chromosome Tree to be Released Tomorrow

A long-anticipated new version of the Y-Chromosome Tree will be released in the journal Genome Research tomorrow (Wednesday, April 2nd). In the paper, scientists from the University of Arizona and Stanford University use recent SNP data and research to reformulate the familiar Y-chromosome tree (see, for example, the current tree at ISOGG). Here is the full text of the press release.  The paper should appear here as soon as it is made available by Genome Research tomorrow.

From the press release:

In an article published online today in Genome Research (www.genome.org), scientists have utilized recently described genetic variations on the part of the Y chromosome that does not undergo recombination to significantly update and refine the Y chromosome haplogroup tree. The print version of this work will appear in the May issue of GenomeResearch, accompanied by a special poster of the new tree.

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RootsTelevision Won Four Telly Awards!

Congratulations to RootsTelevision, co-founded by Megan Smolenyak Smolenyak and Marcy Brown, which just won FOUR Telly Awards! The press release is included below. And don’t forget that you can watch RootsTelevision right here at TGG!

RootsTelevision.com Wins Four Telly Awards in Its First Year

PROVO, UT, March 26, 2008 – RootsTelevision.com, an online channel dedicated to all aspects of genealogy and family history, has been recognized in the 29th Annual Telly Awards for four of its original productions. Selected from more than 14,000 shows were “DNA Stories: A Tale of Two Fathers” (documentary), “Heir Jordan: Extreme Genealogy” (entertainment), “Roots Books: Psychic Roots” (talk show), and “Flat Stanley’s Family Tree” (children’s audience).

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Interesting DNA Links – March 26, 2008

Here are a few of the many interesting links from the DNA blogosphere:

  • DNA Testing Firms Eye Consumers (BBC) – yet another article that looks at both sides of the “should you test” debate.
  • Genetic Testing Gets Personal (Washington Post) – a lengthy discussion of many different types of DNA testing.
  • The Scientific Studies/Papers Page at ISOGG – I’ve been meaning to share this one for a while. The page describes methods for obtaining and reading scientific papers about genetic genealogy (or any other scientific topic, for that matter). This is a helpful resource for anyone who is interested in learning more about the science behind genetic genealogy.


ISOGG Launches Newsletter

imageThe International Society of Genetic Genealogy (ISOGG) has just launched a new newsletter. The first edition, March 2008, is available here. This edition discusses GINA, a DNA Success Story by Shoshone, a segment called “The Armchair Geneticist: Where Hobby Produces Science”, What’s New in ISOGG, and a Featured DNA Project.

The newsletter is well-written and has some great graphics, so be sure to subscribe to this FREE newsletter (see the bottom of the newsletter for subscription information).


The Six Founding Native American Mothers

BeringiaIf you’re interested in DNA, Native American History, or genetic genealogy, then you’re undoubtedly heard of a new paper from PLoS ONE called “The Phylogeny of the Four Pan-American mtDNA Haplogroups: Implications for Evolutionary and Disease Studies.” The authors, from all around the world (including Ugo A. Perego from SMGF and Antonio Torroni from Italy) analyze over 100 complete Native America mtDNA genomes. From the abstract:

“In this study, a comprehensive overview of all available complete mitochondrial DNA (mtDNA) genomes of the four pan-American haplogroups A2, B2, C1, and D1 is provided by revising the information scattered throughout GenBank and the literature, and adding 14 novel mtDNA sequences. The phylogenies of haplogroups A2, B2, C1, and D1 reveal a large number of sub-haplogroups but suggest that the ancestral Beringian population(s) contributed only six (successful) founder haplotypes to these haplogroups.”

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DNA Testing of New York’s New Governor David Paterson

As of Monday the 17th of March, David Paterson will be the Governor of New York State.  Lt. Gov. Paterson recently sat down with Susan Arbetter of WHMT’s NYNOW to discuss the results of his genetic genealogy test results.  Paterson is probably the first governor in the United States to have undergone genetic genealogy testing, and might be the highest government official to do so and then speak openly about it.  These videos are very enjoyable, and it’s interesting to learn more about the future Governor.

In the first segment, Arbetter and Paterson discuss some of Paterson’s genealogy.  They also discuss Paterson’s Y-DNA, which is of European origin.  Arbetter writes on her blog: "On the Lt. Governor’s paternal side, like almost 25% of all African Americans, he’s got white progenitors from England, Ireland and Scotland."

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Controversial Article About Genetic Tests At The Jewish Journal

An article entitled “Gene Test Kits – Can They Lead To Dating Services” by Annalee Newitz discusses the author’s thoughts on the implications of genome sequencing offered by the number of companies that have sprung up in the past year. As a genetic genealogist who is interested in the intersection of law, science, and ethics, I’m always interested in articles that examine the ethical issues associated with affordable genome sequencing. Unfortunately, this article turned out to have little substance behind some serious accusations.

“Snake Oil”?

Newitz begins by mentioning companies 23andMe and deCODEme, both of which recently launched genome scanning services. She then proceeds to her thesis, which is that these services are not only not useful, they are dangerous. She states:

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Knome and Full Genome Sequencing in the New York Times

iStock_000005356657XSmallAmy Harmon, a science writer for the New York Times, writes “Gene Map Becomes a Luxury Item,” an article about Knome (know-me), a sequencing company that will return a customer’s entire genomic sequence for $350,000. Knome was co-founded by Harvard professor George Church, who also directs the Personal Genome Project.

Dan Stoicescu is a retired millionaire who has recently become Knome’s first customer, and only the second person in the world to purchase his entire genomic sequence. According to Dr. Stoicescu, he understands that as of today there is little that his sequence will reveal, but he plans to compare the results of new studies to his genome daily, “like a stock portfolio.”

The article also reveals that Illumina is planning “to sell whole genome sequencing to the ‘rich and famous market’ this year,” says chief executive Jay Flatley. This probably won’t pose much of a problem to Knome – the founders have stated that they are only “offering 20 individuals the opportunity to participate in [their] initial launch phase.”

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