Tuesday, February 5, 2008

Genebase picks up on J2a1k, but hasn't figured out what it is

Yesterday I heard from one of those poor hapless folks who've been taken in by the ubiquitous advertising of Genebase, a company that has jumped onto the genetic genealogy bandwagon without demonstrating any real understanding of what it's about. I cringe whenever I see those ads at the bottom of a New York Times article, or at the top of a page of Google search results. Calling themselves the "DNA Ancestry Project," they do everything they can to make people think they'll be participating in the National Geographic Society's Genographic Project (which charges the general public $99 for a basic test); instead people are paying quite a bit more for tests that aren't calibrated with the standards agreed to (after much painstaking negotiation) by all the other labs who offer ancestry testing, and from many reports, we hear that their customer service is almost undetectable.

Now, one of those customers has contacted me to ask about the interpretation they gave him for his Y-DNA test results. He signed his name with his haplogroup -- what he thought was his haplogroup -- below it, an affiliation he had paid a substantial amount to find out. "J2a1k," it said.

The reason my eyes started to open wide at this point is that the J2a1k branch of the human Y chromosome family tree was discovered in 2005 by Whit Athey and I. It's found at its highest levels among the populations of the southern parts of some of the Mediterranean countries of Europe, and in some Near Eastern countries. After much research to establish its characteristics, we presented a poster introducing it to the scientific community at the 2006 American Society of Human Genetics annual meeting in New Orleans. We also included it in the Y-DNA phylogenetic tree we helped to create for ISOGG, the International Society of Genetic Genealogy. Since then, it has gradually begun to find acceptance among geneticists.
J2a1k, unlike most other Y-haplogroups, isn't defined by a SNP mutation -- yet. We hope and expect one will be discovered in the years to come, as rapidly advancing technology will make it possible to quickly and cheaply sequence all the significant regions of the Y chromosome. But for now, it's defined by a deletion at one STR marker, DYS445, giving a value of 6 instead of the value of 12 generally found in its parent group. DYS445 has only been tested by a few commercial ancestry testing companies until now. Scientific journal articles to be published in the near future will show the results of testing it in samples from various countries. DYS445 isn't one of the markers Genebase included in the results they sent this customer.

Often we don't have to test DYS445 to tell whether someone belongs to J2a1k. This is because the members of the group display some very clear patterns in the rest of their Y-DNA test results (their haplotype). We've analyzed a lot of data to correlate the presence of the DYS445 deletion with specific combinations of values on many other markers. Whit Athey's widely used and respected free Haplogroup Predictor program now includes J2a1k among the groups it can detect when a person enters their Y-DNA test results.
So, does this guy's haplotype look like it might belong in J2a1k? By no means. I saw immediately that little if anything about it would point toward J2a1k. Whit's program gives it a probability of close to zero of belonging to J2a1k. As far as we can tell from the test results he has so far, he most likely belongs to the default J2a1* paragroup (like my father and so many others).

Genebase claims J2a1k is his "Predicted Haplogroup based on 52 certified Y-DNA STR markers." Below that, though, they admit that in this case, the "Prediction Strength" is only 40%. But why predict it at all? It's a mystery -- though talking about a newly discovered branch of the phylogenetic tree might be thought to lend some cachet, giving the impression that they're keeping up with the latest research. The impression falls a bit flat, though, when one realizes that there's nothing behind the façade!

Those who'd like to see some typical examples of J2a1k haplotypes are welcome to visit our Y-Haplogroup J Project, where its two sub-groups can be seen among the many J clades -- the larger branch of J2a1k having 9 at the DYS391 marker, and the smaller one with 10 at 391 (scroll down past all the J1 clades, and J2a1k will be found down in the deep lime green and cyan sections.)

It's sad when commercial interests try to cash in on scientific research without providing the genuine information customers are seeking about their ancestral roots. When the user interface is so slick and the scientific jargon sounds convincing, how can anyone who's new to genetic genealogy know what they can trust?

What's revolutionary about the Internet is the way it allows millions of us to share our knowledge with one another, whether or not we're the owners of large companies. Email listservs are one way you can participate, or listen in on the latest discussions of those who are most involved in genetic genealogy (like so many other topics). The Genealogy-DNA list is high-volume, and the ego-driven spats of some of the regulars can be annoying, but it's an essential source if you want to find out what companies are reputable and customer-friendly, not to mention in tune with the latest research findings in the field. Fortunately it's archived, so you can simply browse or search the archives to see what's being said, if you don't want to fill your Inbox with emails.

I hope anyone who's thinking of taking the plunge to try a DNA test for ancestry will be smart and pay attention to what the 'old-timers' can tell you. Those marketers can be clever, but a bit of light can expose their tricks!

Friday, December 28, 2007

"Perfect Strangers, Genetic Kin" - New Video & Feature Story in NYT

Here's an interesting video and article from Amy Harmon. http://video.on.nytimes.com/?fr_story=4db2018bb98de2510180f77711c9920684d7576f

It tells how new microarray testing technologies to find structural abnormalities in the chromosomes are making it possible for many families whose kids have rare genetic disorders to get an exact diagnosis for the first time.

Since usually no one knows what treatments work for these little-known conditions, people are finding that what helps most is to get together with other families whose kids have the same rare disorder. This actually comes across better in the article:
http://www.nytimes.com/2007/12/28/health/research/28dna.html?em&ex=1198990800&en=584ecb49c0c7776f&ei=5087%0A

This illustration of the duplications & deletions on the chromosomes, with photos of affected kids, is outstanding!


http://graphics8.nytimes.com/images/2007/12/28/us/dnalarge.jpg


Not only that, but there's a "backstory" where another journalist interviews Amy about her work on this topic:
http://graphics8.nytimes.com/podcasts/2007/12/27/28backstory-graustark-harmon.mp3

But I don't think it adds that much.

What's better is the resource page, More Information on Chromosomal Disorders: http://www.nytimes.com/2007/12/28/us/28dnalistweb.ready.html?ref=research

On that page, I found one of the companies that's offering the microarray testing. They seem to offer pretty nice services -- the only thing I couldn't find on their website is how much they cost!
http://www.signaturegenomics.com/


It looks like it might be possible, conceivably, for consumers to order tests directly, but you're supposed to have a doctor or genetic counselor working with you -- which makes sense for this kind of testing, unless you have in-depth medical training yourself.

The article says 1/100 people have some mutation (I assume a significant one) compared to their parents. In the future we can expect that this kind of testing will come way down in price. The only question, of course, is whether we can reform the health insurance system soon enough to keep up with this -- that is, to make sure that everyone can get health care regardless of their genetic status.