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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 2010 Census

At 12:01 on April 1, 2082, millions of genealogists around the solar system will be able to instantaneously download every image from the 2010 census into their neural storage chip, and within minutes these images will be linked to the ancestors in their 3D holographic family trees. Almost all of these genealogists will be able to find themselves in these census images and index.

Okay, maybe it’s a little premature to guess about the use of a census that hasn’t even been enumerated yet, but as most genealogists know, census results are the backbone of the genealogical world. Only one census has been released since the advent of the internet. In 2002 the 1930 census was released, and the countdown to the April 2, 2012 release of the 1940 census has already begun.

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Abstract From the New Y-Chromosome Haplogroup Tree Article

Here is the abstract of today’s Y-chromosome haplogroup tree paper in Genome Research, I’m still working to get a copy of the actual paper (unfortunately, it’s not open access at this time):

Markers on the non-recombining portion of the human Y chromosomecontinue to have applications in many fields including evolutionarybiology, forensics, medical genetics, and genealogical reconstruction.In 2002, the Y Chromosome Consortium published a single parsimonytree showing the relationships among 153 haplogroups based on243 binary markers and devised a standardized nomenclature systemto name lineages nested within this tree. Here we present anextensively revised Y chromosome tree containing 311 distincthaplogroups, including two new major haplogroups (S and T),and incorporating approximately 600 binary markers. We describemajor changes in the topology of the parsimony tree and providenames for new and rearranged lineages within the tree followingthe rules presented by the Y Chromosome Consortium in 2002.Several changes in the tree topology have important implicationsfor studies of human ancestry. We also present demography-independentage estimates for 11 of the major clades in the new Y chromosometree.

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1

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.

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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).

3

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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