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review of scientific and news articles on dna testing and popular genetics

Mad Hatter's Tea Party at American Colleges

Wednesday, June 16, 2010

To Do DNA or Not to Do DNA?

Much Ado about Nothing

American education is in such a state of decline and confusion that the following new program, with all its pros and cons, seems tantamount to a mad hatter's tea party. We reproduce a description of it from Nature in all its carefully nuanced and agonizing detail. We suggest that rather than fretting over whether DNA testing companies might use predatory marketing on teenagers or students be pressured into making purchases and be psychologically damaged by DNA results, the school authorities worry about real threats like the fast food poisons served up in the cafeteria franchises on their campuses. Or overpriced and watered down textbooks. Or alcohol in dorms. Or date rape. Or just about anything else.

A DNA education

Nature 465: 845-46 16 June 2010

Taking personal genetic testing into the classroom brings ethical and legal sensitivities to the fore. Although personalized genetic testing is still very new and controversial, its increasing use in health care seems inevitable — a trend that makes it essential to give consumers and physicians a better education in the technology's strengths and weaknesses.

That was the rationale behind an announcement made last month by the College of Letters and Science at the University of California, Berkeley. This year, instead of sending its incoming students a book for later discussion in class, the college will send them a kit to swab their DNA. If they so choose, students can send in their sample to be analysed for three common gene variants that indicate how an individual metabolizes alcohol, lactose (found in dairy products) and folic acid, a vitamin common in leafy green vegetables.The impulse behind Berkeley's announcement was commendable.

But officials there were too hasty in designing the programme, as evidenced by the firestorm of criticism it triggered and the changes the university has instituted in response. For example, each student's kit will now include not just details of the measures being taken to safeguard and anonymize the data and descriptions of the genes to be tested, as originally planned, but also information about the ethical and legal issues surrounding genetic testing. In addition, the university has modified a contest that accompanies the programme: the prize will no longer be a full genetic test conducted by a commercial testing company, which could be perceived as an endorsement of such firms, but will instead be cash.

Finally, organizers have decided to hold off revealing the tests' results until just before a lecture at which the benefits and limits of genetic testing, as well as the three chosen genes, will be discussed in detail. They will also give an accompanying lecture on the ethical and social dimensions of genetic testing. And students will be able to seek private counselling about their results if they wish.

Although it was wise of Berkeley to make these improvements, concerns remain. The university contends, for example, that there will be no pressure on students to participate in the genetic testing. Not only will they be told it is entirely optional, but students — or in the case of those under 18 years of age, their parents — will sign an informed consent document. Moreover, faculty members will never learn which students participated and which did not. But critics still worry about indirect pressure: the very fact that the kits are being sent to all of the college's incoming students could give them the impression that their participation is expected, in which case their choice may not feel so free.

A telling contrast in approach has been provided by Stanford University in Palo Alto, California, which announced a similar course designed for medical students shortly after Berkeley announced its programme. Recognizing the potential for controversy from the outset, Stanford officials first appointed a task force of basic scientists, clinicians, legal professionals, genetic counsellors, ethicists and students who spent a year designing precautions against coercion and conflicts of interest by the institution, and working out access to counselling.

The result is a well-thought-out programme — which also includes a research component designed to test a commonly held belief: do students truly learn better when the information presented to them is of personal relevance?

That said, the Berkeley and Stanford programmes are both still experimental. No one has all the answers to the issues they raise, which is why designing such curricula will involve constant refinement and evolution. It is shortsighted for critics to oppose such endeavours on the grounds that experts don't yet know how to interpret genetic information or how to integrate it into medical care. That is changing rapidly — and these two programmes are only the beginning of a long conversation that needs to happen on campuses worldwide.

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Plato Prehistorian and Geneticist

Sunday, June 06, 2010

Mary Settegast is described on the jacket simply as an archeological researcher, the 20-year-old book being Plato Prehistorian; 10,000 to 5,000 B.C. Myth, Religion, Archaeology (Hudson:  Lindisfarne, 1990). It's obvious she is not a member of the entrenched academic community of archeologists and prehistorians, for she spends most of the introduction to her fascinating study inveighing against the Old Model and New Archeology and defending the value of myth. She then retells the Egyptian Priest's tale from Plato's Timaeus about how Solon's ancient Greek ancestors defeated an aggressive Atlantic sea-power situated on a now-lost continent beyond the Straits of Gilbraltar--the so-called Atlantis myth, which has no other source but the writings of Plato. Her thesis is that Plato is representing what he believed to be historical fact. Among other arguments, Settegast points out that it would have been impious for him to contrive a political fiction and put it in the mouth of Critias, who attributes the story to his grandfather, who received it from Solon himself, given the occasion of the dialogue, a celebration of Athena's festival day. She asks, "Would Socrates have Critias offer to the goddess as 'a just and truthful hymn of praise' (Timaeus 21) an intentional misrepresentation of Athena's own past history with the Greeks?"

Once Plato's word and intentions are vindicated it is possible to study the scattered clues he gives us to prehistory of the Mediterranean world in a new light. Settegast makes a good case that the Magdalenian cave art of 17,000/15,000 to 9000 BCE preserves the fading glory of an Atlantic culture of enormous power and sophistication that came to an abrupt end toward the end of the tenth millennium. She brackets the question of the location of a sunken continent and dwells instead on the blunders of modern prehistorians who fail to grasp the advanced picture of civilization left to us in Paleolithic remains like the Lascaux paintings. For instance, most anthropologists have explained the paintings as vehicles for sympathetic hunting magic without noting that it is the horse that is most commonly depicted while excavations of Magdlenian sites reveal almost exclusively the remains of reindeer as their principal animal food. The religious significance of the animals is lost on most analysts. Plato, as usual, provides the pertinent clue: the Atlantics worshipped Poseidon and regarded his sacred animal the horse with great awe. A revisionist look at the horses in cave paintings clarifies that the lines on horses' heads represent harnesses, not natural contours or anatomical details, proving that the Magdalenians or Atlantic peoples had tamed the horse by 12,000 BCE, some eight thousand years before the date assigned to the domestication of the horse in the conventional model.

 

Upper Paleolithic writing recovered from Magdalenian cave sites (top) compared to characters in three early written languages:  (b) Indus valley signs, (c) Greek and (d) Runic. Settegast (p. 28) after Forbes and Crowder, 1979.

I've just started to read the book and will conclude this "preview" for the blog by mentioning that one obstacle to accepting Plato's story at face value was that he describes the Atlantics as literate. The recent reevaluation of the "magic signs" in Magdalenian caves as a writing system with heirs in many Old World alphabets seems to bear him out once again...and make his detractors look stupid and full of hubris. It is the effect many Socratic dialogues were meant to have on their readers.

Addendum:  One of the offshoots of Atlantic Culture according to Plato Prehistorian was the Çatal Hüyük civilization that flourished in Anatolia from 6200-5300 BCE. Only 2-3 % of the 32 acre site has been excavated, but what has come to light so far includes amazing cyclopean walls, refined wall paintings and peculiar religious practices such as a vulture-bull rite, leopard shrine and Mistress of the Animals cult reminiscent of Venus figurines. It is conceivable that Atlantic Culture itself was spurred to life originally by admixture of Europeans with Neanderthals, since there are numerous signs of Neanderthal culture in  archeological remains. Significantly, the Venus figures once associated with Gravettian Culture now appear to have had their origins with Neanderthals, who occupied Europe for 350,000 years before H. sapiens sapiens. Venus figurines were worn about the neck by Neanderthals, as proved in several excavations in Spain and elsewhere. In 1961, archeologists unearthed the skull of a Neanderthal man in the ancient site of Chalcedon on the east side of the Bosporus in Asia Minor, although the find is seldom mentioned today.

Our Neanderthal Index is based on affinities with archaic populations presumed to carry the highest rate of admixture with Neanderthals. These include many of the Atlantic and Mediterranean populations mentioned in Plato Prehistorian, including Greek, Turkish, Syrian, Arabian, Basque, Egyptian and Berber.

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Most Humans Part Neanderthal

Wednesday, May 12, 2010

The bombshell arrived with the May 7, 2010 issue of Science Magazine. Entitled "A Draft Sequence of the Neandertal Genome," it presented the years-long attempt of an international team of scientists to derive DNA from ancient female Neanderthal bones and determine if there was any genetic overlap with humans. The news was so sensational that the journal made the original scientific report and all collateral materials free to everyone, along with a podcast, multimedia presentation "The Neandertal Genome" and slew of links and forums for comments.

Read the original press release from the Max Planck Institute for Evolutionary Anthropology in Leipzig. It was embargoed for May 6, 2010, 8 p.m.

 

Svante Pääbo’s Neanderthal research group from left to right: Adrian Briggs, Hernán Burbano, Matthias Meyer, Anja Buchholz, Jesse Dabney, Kay Prüfer, Svante Pääbo, Janet Kelso, Tomislav Maričić, Qiaomei Fu, Udo Stenzel, Johannes Krause and Martin Kircher. (Copyright: Frank Vinken)

Some background

Discovered in a quarry in Germany in 1856, 40,000-year-old Neanderthal man became the first recognized early human fossil. The debate immediately began whether Neanderthals were a separate species or sub-species of Homo sapiens. German language orthographic reforms rendered the spelling of the name Neandertal in the twentieth century, although most people even today prefer to stick with the th of the original word. Neanderthals are named after the Neander Valley (German thal or tal) in which they first came to light.

More and more of them turned up over the years:  in Belgium (1886), a nearly complete skeleton in southern France (1908), Israel (then-Palestine, 1930) and Iraq (1953). The first ambitious genetic work was a partial sequencing of their mitochondrial DNA based on highly degraded specimens: Krings et al., Cell 90, 19 (1997). A second mitDNA sequence was achieved in 2000. The complete mtDNA sequence came in 2008:  Green et al., Cell 134, 416 (2008).

In the meantime, Neanderthals were found to have red hair and fair skin, body paint, customs, societies, rituals and art. They used fire, tools and weapons. They hunted bison, horses and other large animals and made bread of acorn meal. With their short arms and weak shoulder sockets, however, they probably could not throw spears. Before they were conquered by their smaller human cousins, they had colonized an area extending from Spain to Western Siberia and the Middle East. They were acclimated to northern Europe's icy temperatures and flourished especially before and during the last Ice Age. Then, suddenly, about 30,000 years ago, the fossil record goes silent. Their last holdout appears to have been in Spain.

Our picture of Neanderthals is likely to change radically now that we know they were among ancestors of ours, not a dead-end, primitive race. Some writers had already speculated, in fact, that Neanderthals were more advanced in many ways than their rivals, Cro-Magnon Man. Certainly, their religion was highly adumbrated. Some carried Venus figures on necklaces. According to the author of The Neanderthal's Necklace, Juan Luis Arsuaga (co-director of the World Heritage Site Sierra de Atapuerca in Spain), at one burial in Russia, a 60-year-old adult had 3,000 beads of drilled mammoth ivory sewn onto his clothes. A boy in the same burial wore a belt decorated with 250 arctic fox canines. There were also shells, armbands, head ornaments, bracelets, pendants, assegais, ceremonial staffs and other artifacts made of bone, antler, ivory and stone (p. 294).

The blockbuster draft of the Neanderthal genome just published noted genes linked to cognitive abilities, geo-spatial skills, language and motor coordination as well as strength, reproductive advantages and (what we knew already) cold adaptation. Much attention is likely to focus on the Neanderthal's signature occipital bun, noticed in isolated or vestigial populations like the Berbers, Saami, Canary Islands, Native Americans, Australian Aborigines and Melungeons. These populations probably preserved greater proportions of Neanderthal admixture than others.

Because the genetic legacy of Neanderthals (so far) has not been detected in the mitochondrial record, it is believed that gene flow came from males mating with human females. No male Neanderthal lines survive -- not surprisingly. Only autosomal DNA reveals the Neanderthal contribution to human populations.


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Obstructionist Research Subjects

Thursday, April 22, 2010

In an article titled "Indian Tribe Wins Fight to Limit Research of Its DNA," Amy Harmon reports that Arizona State University has agreed to pay the Havasupai Indians of the Grand Canyon $700,000 and return blood samples collected from them for diabetes studies in the 1990s. The university's Board of Regents apologized to the tribe for...well, that part of the story is not clear. Not informing them that the samples might be used for "wider-ranging genetics"? Not informing the subjects that they reached negative conclusions and found no "diabetes gene" as they believed they had in a Pima Indian study? Not getting permission (no, that was done with simple-to-understand, signed consent forms, as was proper)? Coming to different conclusions about the Havasupai's origins than their myths and legends? Allowing people to "get degrees and grants" using "our blood"? Implying that the Havasupai are inbred? One Havasupai woman found that offensive.

Many tribal members were disgruntled because they were still suffering from diabetes after the university "took their blood."

Sorry, Havasupai Indians, a project participation consent form is not a treaty. But if you signed it, you should honor your word. You cannot go back now and require the researchers who use your samples to come to research conclusions that suit you and be silent about those that do not. Science (and society) doesn't work like that.

The tribe's dictates to the University were mercenary and the University's decision to pay the tribe off, wrong. The case sets a bad precedent and places another barrier between Indian peoples in remote areas and the real world. 

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Autosomal DNA Testing is Newest Wave

Wednesday, April 07, 2010

DNA Consultants’ 18 Marker Ethnic Panel Reveals Native American, Jewish, Other Hard-to-Find Lines in Your Family Tree

PHOENIX – (April 7, 2010) – The market leader in autosomal DNA testing for ancestry, DNA Consultants announced that it has introduced the latest enhancement to its DNA Fingerprint Test™ ancestry tool. The add-on to its popular all-in-one ancestry tracing product is called the 18 Marker Ethnic Panel and sells for $50.00.

“With the 18 Marker Ethnic Panel, you can easily verify Native American, Ashkenazi Jewish, African and other ethnic lines that may be hidden in your family tree,” said Donald Yates, the company’s founder and principal scientist. “If you get a check mark for Native American marker I or II from either parent, you have Native American ancestry…it’s that simple.”

Like the DNA Fingerprint Test upon which it is based, the 18 Marker Ethnic Panel uses the same unique DNA profile familiar from television police shows like CSI. The markers were discovered by the company last August after statistical validation showing they reflected population splits in early human migrations.

“We’re not talking about ancient history,” said Yates. “These markers reflect recent genetic contributions to your overall ethnic mix within a relatively shallow time frame of about the last ten generations.” The reason, he said, was that Native American and the other types of DNA are “so distinctive their genetic signature lasts and never completely goes away.”

The 18 Markers include tell-tale evidence for Native American, Mediterranean, East European, Ashkenazi Jewish, Sub-Saharan African, Asian and several other definitive ethnic groups.

 “The test doesn’t tell you how much of that ancestry you have,” Yates added. “It only tells you if you have it, even if it is a minor line.” The panel also reports whether you have a given ethnic heritage from one parent or both.

To obtain the 18 Marker Ethnic Panel you must first order or submit results from a DNA Fingerprint Test. The core test is a comprehensive analysis of all your ancestral lines and gives you matches to populations and countries around the world where you have accumulations of ancestry. It sells for $250.00. Combined with the new 18 Marker Ethnic Panel, the test is called DNA Fingerprint Plus and costs $300.00.

Order online at dnaconsultants.com or call toll free 1-888-806-2588.

For more information, maps and sample report, visit DNA Consultants’ product page for the DNA Fingerprint Plus at:

http://dnaconsultants.com/_product_60282/DNA_Fingerprint_Plus.

DNA Consultants’ complete and total ancestry analysis is based on human prehistory but detects recent ethnic contributions to your DNA.

Donald Yates discovered

new DNA markers in 2009.

NATIVE AMERICAN I

NATIVE AMERICAN II (Hispanic)

EUROPEAN I ( Mediterranean )

EUROPEAN II

EASTERN EUROPEAN I

EASTERN EUROPEAN II

ASHKENAZI JEWISH I

ASHKENAZI JEWISH II

ASHKENAZI JEWISH III

TATAR/KHAZAR

ASIAN I

ASIAN II

SUB-SAHARAN  AFRICAN I

SUB-SAHARAN AFRICAN II

SUB-SAHARAN AFRICAN III

SUB-SAHARAN AFRICAN IV

AUSTRALOID/SOUTHEAST ASIAN 

FINNIC/URALIC

Ethnic admixture markers included in the DNA Fingerprint Plus 18 Marker Ethnic Panel range from Native American to Sub-Saharan African.

Press Release dated April 7, 2010

DNA Consultants

Home of the DNA Fingerprint Test

26438 N. 42nd Way

Phoenix, AZ 85050

Tel. (480) 292-9820

Website:  www.dnaconsultants.com

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Archeology from Non-Archeology

Wednesday, April 07, 2010

The explosion in commercial archaeology has brought a flood of information. The problem now is figuring out how to find and use this unpublished literature, reports Matt Ford in the current issue of Nature magazine.

"I became aware that what I was teaching would be out of date without looking at the grey literature (unpublished reports)," says one professor at the University of Reading in England.

A policy shift in 1990 required all construction projects to document archaeological remains in Britain and generated an avalanche of findings that cannot be absorbed by the official academic field. The result is that our picture of the past is very much outdated. Academia is not likely ever to get caught up. Nor are academicians ever likely to warm to new theories of population genetics like diffusionism and trans-Oceanic contact and colonization, since few of those theories ever received a hearing in the halls of academe in the first place.

Read the full story in Nature, "Archaeology:  Hidden Treasure."

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VIEWPOINT: Personalized Genomic Information

Wednesday, February 03, 2010

Preparing for the Future of Genetic Medicine

Alan E. Guttmacher et al.

Nature Reviews Genetics 11, 161-65 (February 2010)

Four experts with different insights into the field of genomic medicine answer questions about the prospects for using this type of information. The issues range from scientific to ethical and logistical.

 

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Does Not Compute: Putting Three Sciences Together to Map Migrations in East Asia

Wednesday, February 03, 2010

BookPast Human Migrations in East Asia. Matching Archeology, Linguistics and Genetics, ed. Alicia Sanchez-Mazas et al. Routledge, Taylor & Francis, 2008.

According to the reviewer of this compilation of interdisciplinary studies, Frank Roels, writing in European Journal of Human Genetics 18:262f., the three approaches are incommensurate because of differing timeframes and rates of change. Their models cannot be harmonized with sufficient reliability to write a comprehensive, persuasive history of human migrations and settlements in East Asia.

 

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Book Review: The Language of Life by Francis S. Collins

Wednesday, February 03, 2010
Nature 463/298-299 (21 January 2010)

Abdallah S. Daar in reviewing this new book by NIH director Francis Collins maintains that “we have entered the era of rapid, inexpensive genetic testing and genome sequencing” and must simply come to terms with the phenomenon of personal genomics and consumer genetics. In the next decade, he predicts, the cost of sequencing a human genome will drop to a few hundred dollars. The cost for the Human Genome Project was about $3 billion over 13 years.

The Language of Life:  DNA and the Revolution in Personalized Medicine

By Francis S. Collins

Harper/Profile. 2010. 368 pp/288 pp.

$26.99.

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Neandertals Had Symbols, But Did They Use Human Language?

Thursday, January 14, 2010
Neandertal Jewelry Shows Their Symbolic Smarts

Michael Balter

Science 15 January 2010:
Vol. 327. no. 5963, pp. 255 - 256
DOI: 10.1126/science.327.5963.255

A handful of marine mollusk shells, possibly used as necklaces and paint cups, shows that Neandertals expressed themselves symbolically, say the authors of a paper published online this week in the Proceedings of the National Academy of Sciences. They argue that the findings suggest that social and demographic factors, rather than cognitive differences, best explain why so-called modern behavior was relatively rare among Neandertals.

Read abstract.

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