DNA Consultants Home of the DNA Fingerprint

At a time when it seemed that American science had bitten off more than it could chew with the Human Genome Project, Craig Venter and his innovative company published "A New Strategy for Genome Sequencing." Appearing in the journal Nature in 1996, the Venter multi-center approach bypassed laborious gene mapping and allowed the HGP to meet its goal of full sequence information on the human genome in 2000.

"In the race to sequence the human genome," write the editors of Nature's DNA Technologies Milestones, "research groups had to choose between the random whole genome shotgun sequencing approach or the more ordered map-based sequencing approach." The choice of randomness versus order was present from 1982, but the Venter strategy was resisted for many years. Finally, in 1996 it was accepted and given an equal emphasis with the more orthodox approach.

After a standoff between the two groups of scientists, "a showdown ensued, with the biotechnology firm Celera Genomics wielding whole-genome shotgun sequencing and the International Human Genome Sequencing Consortium wielding map-based sequencing. Yet when the dust settled, it was a draw -- both groups published their initial drafts of the human genome concurrently in 2001."

The maverick technology helped make high throughput genomic sequencing at commercial labs an economy reality and gave birth to a range of new DNA tests within the reach of ordinary consumers like you and me. Today, fifteen years later, those interested in autosomal ancestry testing and personal genomics have biologist and entrepreneur Craig Venter and his irascible persistence as a scientific pioneer to thank.

We always suspected the genetics community of clinging to stale dogmas and being slow to acknowledge emerging new evidence about American Indians. But we did not dream that their officiousness extended to changing the information given by test subjects to bring it into conformity with preconceived conclusions.

Not until we heard Marcy's story.

"Over the years, I've heard complaints that [a DNA testing company] is not really responsive when you have questions about unexpected results," Marcy said. "They usually suggest further testing, which of course, means more revenue to them.

"I've had some major disagreements with [a DNA testing company] over how they list results for mitochondrial haplogroup ancestral origins . . . . I found out they were taking dozens of T2's who had listed their earliest known female ancestor as being from America or the United States, changing this and placing them in the 'unknown' category. They claimed that because our haplogroup was designated European, our ancestors couldn't be from the United States!

"Now this was nonsense, because at the same time, they allowed people to claim other similarly-colonized western countries, like Cuba. It's my opinion that if participants list a country of origin for their earliest known female relative, that should be what is on the web page, not something assigned by [a DNA testing company] because as they told me, it may 'confuse people,' or contradict current scientific data.

"As a consequence [the DNA testing company's] publicly reported ancestral origins has nothing to do with our haplogroup's ancient Cherokee clan mother. The chips should fall where they may."

Now this is not professional behavior on the part of a DNA testing company and it prevents new findings from coming to light.

In a study of 52 individuals claiming direct maternal descent from an American Indian woman, mostly Cherokee, we found that they were unmatched anywhere else except among other participants. Haplogroup T emerged as the largest lineage, followed by U, X, J and H. Similar proportions of these haplogroups were noted in the populations of Egypt, Israel and other parts of the East Mediterranean.

DNA testing companies do a disservice to their customers and to science by failing to call results as they appear without doctoring them. It is time geneticists stopped bringing all American Indians over the Bering Straits and forcing test subjects into the Procrustean bed of outmoded theory.

For more on "anomalous" American Indian haplotypes, visit our Cherokee DNA Studies, now in Phase II testing.

Abstract
The purpose of this article is to give an overview and discuss the relevant regulations in place, or under consideration, regarding healthcare-related personal genetics services in Europe – this is a rapidly evolving field and in most European Union (EU) countries the regulatory framework is not yet clear. The review will be framed from the perspective of potential service providers (companies, health services and practitioners, including medical, nutritional, complementary, etc), the growing number of which will need to be aware of potential regulatory hurdles existing now and that may arise in the future. The main conclusion from the survey is that strict regulations regarding practitioner-delivered personal genetic-testing services are unlikely to be enforced over the next 5 years in most EU countries, with the exception of Germany. There is broad-based, but by no means universal, support for a strong voluntary code of practice as an alternative to government regulations to protect consumers and to enable all stakeholders to recognise serious and reputable service providers. On the other hand, there are influential bodies calling for strict regulation. As genotyping costs rapidly fall, it is likely that it will become routine and a major challenge that does not seem to be addressed by current debate on regulations is the emergence of companies offering/selling personal genetic services based on a customer's pre-existing genetic results and therefore no actual laboratory testing involved.

In a paper to be delivered at the American Marketing Association's meeting in Washington in June, Elizabeth C. Hirschman estimates that the number of people who have purchased a DNA test now exceeds 1.5 million. Her work suggests that the value of the market (excluding paternity testing) in 2011 will reach nearly $150 million in sales. That seems like too big an industry to escape government oversight, and it's true that several scientists have targeted the direct-to-the-consumer DNA testing business for criticism, particularly personal genomics companies like 23andme.

Before another academic grant gets written to send out another industry questionnaire, however, marketing professionals and public policy analysts ought to have a look at Hirschman's new case study, destined, we think, to become a classic. "Altruistic Economics and Consumer Cooperatives in the DNA Marketspace" sketches a vibrant picture of DNA test takers busy following up on their results in social networking sites like DNA Communities and even joining in the design process for product improvements by the leaders in the industry. No unhappy campers there!

The proof of the pudding is in the eating. Rather than mount yet another policy making roundtable, would-be regulators should just order some of the DNA tests available from today's leading companies and judge for themselves how accurate or valuable or harmful they are. That makes a lot more sense than writing another food review for a restaurant they do not intend to patronize, or for a cuisine that is not to their taste.

The AMA's Marketing and Public Policy Conference is the premier national and international event for marketing academics, public policy makers, and marketing practitioners interested in social and public policy.

Another point made by the paper is that "The industry has completed the introduction, early growth stages and consolidation phase of its life cycle . . . . It is a mature field facing few new technology thresholds, and it is still very much confined to the United States, Canada and England." That having been said, it may be too late to regulate the industry. It seems to be doing fine all by itself. Like the pharmaceutical and computer industries, the DNA marketspace is an American phenomenon we should all just basically let thrive and be proud of.

Altruistic Economics and Consumer Cooperatives in the DNA Marketspace

 

The whole business of direct-to-the-consumer DNA tests was founded upon the revelation in 1997 that Jewish men with the last name Cohen ("priest" in Hebrew) or something similar often preserved the genetic signature of Old Testament priests in the Y chromosome type handed down from father to son. Last year at long last, the so-called Cohen Modal Haplotype was completely pinned down and defined to everyone's satisfaction ("Does He or Doesn't He?"). Now similar genetic traces are being sought, and found, for other religions from the Middle East.

In response to customers asking whether being a Jew was a matter of ancestry or culture, genes or religion, I used to say, "Genes don't have religion, genes are older than religions, your DNA doesn't know what religion you are." But the increasingly adept methods of populations genetics are changing that pat response. The key tool is a program that uses advanced statistics to estimate population differentiations, BATWING. Standing for Bayesian Analysis of Trees With Internal Node Generation, this software can calculate the effective population sizes and growth rates from microsatellite data, assuming there was a split into several populations in the past. It is a little over 10 years old. The following article is likely to become a classic in this regard:

Influences of history, geography, and religion on genetic structure: the Maronites in Lebanon

Marc Haber et al.

European Journal of Human Genetics (2011) 19, 334–340; doi:10.1038/ejhg.2010.177; published online 1 December 2010

Abstract

Cultural expansions, including of religions, frequently leave genetic traces of differentiation and in-migration. These expansions may be driven by complex doctrinal differentiation, together with major population migrations and gene flow. The aim of this study was to explore the genetic signature of the establishment of religious communities in a region where some of the most influential religions originated, using the Y chromosome as an informative male-lineage marker. A total of 3139 samples were analyzed, including 647 Lebanese and Iranian samples newly genotyped for 28 binary markers and 19 short tandem repeats on the non-recombinant segment of the Y chromosome. Genetic organization was identified by geography and religion across Lebanon in the context of surrounding populations important in the expansions of the major sects of Lebanon, including Italy, Turkey, the Balkans, Syria, and Iran by employing principal component analysis, multidimensional scaling, and AMOVA. Timing of population differentiations was estimated using BATWING, in comparison with dates of historical religious events to determine if these differentiations could be caused by religious conversion, or rather, whether religious conversion was facilitated within already differentiated populations. Our analysis shows that the great religions in Lebanon were adopted within already distinguishable communities. Once religious affiliations were established, subsequent genetic signatures of the older differentiations were reinforced. Post-establishment differentiations are most plausibly explained by migrations of peoples seeking refuge to avoid the turmoil of major historical events.

Meanwhile, in Autosomal DNA

A like expansion and intensification of research interests has also transformed the field of Finnish DNA. In the old days it was well appreciated, through the work of Finnila and others, that the people of Finland, Estonia, Sweden and neighboring regions in Russia had a peculiar genetic history. Strangely, at least on the basis of mitochondrial DNA, they were more closely related to the Berbers of North Africa than the neighboring Swedes, Poles, Lithuanians and Russians. Female haplogroups UK were associated with a risk of occipital stroke, migraine and other neuro-deficiencies. On another level, their unique genetic history was approached through the study of male haplogroup N, common among Laplanders and Saami.

The focus has now shifted from haplotyping and sex-linked genes to population genetics and autosomal DNA just as it has in consumer tests. After 10 years, an important autosomal study of the Saami has revolutionized the subject and shows promise of becoming the pilot to a new series of genome-wide disease association studies.

A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies

Jeroen R Huyghe et al. 

European Journal of Human Genetics (2011) 19, 347–352; doi:10.1038/ejhg.2010.179; published online 8 December 2010

Abstract

The understanding of patterns of genetic variation within and among human populations is a prerequisite for successful genetic association mapping studies of complex diseases and traits. Some populations are more favorable for association mapping studies than others. The Saami from northern Scandinavia and the Kola Peninsula represent a population isolate that, among European populations, has been less extensively sampled, despite some early interest for association mapping studies. In this paper, we report the results of a first genome-wide SNP-based study of genetic population structure in the Finnish Saami. Using data from the HapMap and the human genome diversity project (HGDP-CEPH) and recently developed statistical methods, we studied individual genetic ancestry. We quantified genetic differentiation between the Saami population and the HGDP-CEPH populations by calculating pair-wise FST statistics and by characterizing identity-by-state sharing for pair-wise population comparisons. This study affirms an east Asian contribution to the predominantly European-derived Saami gene pool. Using model-based individual ancestry analysis, the median estimated percentage of the genome with east Asian ancestry was 6% (first and third quartiles: 5 and 8%, respectively). We found that genetic similarity between population pairs roughly correlated with geographic distance. Among the European HGDP-CEPH populations, FST was smallest for the comparison with the Russians (FST=0.0098), and estimates for the other population comparisons ranged from 0.0129 to 0.0263. Our analysis also revealed fine-scale substructure within the Finnish Saami and warns against the confounding effects of both hidden population structure and undocumented relatedness in genetic association studies of isolated populations.

The key to emerging triumphs of research here is the international HapMap project.

On two fronts--religious history and rare diseases--genetics has brought more advances in the past decade than in the previous century before that. That consumers can take part in these exciting developments by ordering an affordable autosomal analysis of their entire ancestry or confirming the paternity of their child with a simple test purchased at their local drugstore is a tribute to the present golden age of American science and industry. 

Surely Not "Ancestry Painting and Global Similarity"

We were surprised to see what DNA testing companies are calling their autosomal products these days. Ours is the DNA Fingerprint family of products, but 23&me calls their entry "Ancestry Painting and Global Similarity" and "Personal Genome Service." Others offer "Genetic Ancestry Analysis," "Family Finders," and "Ancestral Origins."

Before the introduction of DNA fingerprinting for ancestry purposes, DNA testing was limited to the father’s male line or mother’s mitochondrial lineage. Newer autosomal tests can be taken by a male or female. They analyze all your lines at once, not just the two traditional ones of genetic genealogy. Autosomal DNA is the great equalizer, but it's not being marketed very adroitly.

A beginner’s class titled "Ancestry Tracing with an Autosomal DNA Test:  Conceptions and Misconceptions" will be presented by DNA Consultants principal investigator Donald N. Yates, Ph.D., at the upcoming Arizona Family History Expos. It will provide an overview of autosomal DNA tests that are capable of yielding a more complete picture of your family tree and its roots. Covered are the science and history of DNA fingerprinting, what markers are delineated, the databases used for finding matches, and methods and strategies for interpreting your results, including follow-up websites, social networking and readings.

The event takes place at the Arizona Family History Expo 2011, Lecture 73, Conference Theater, 11:00 a.m., Saturday, Jan. 22, 2011, Mesa Convention Center, 263 North Center Street, Mesa, Arizona 85201. For information on attending, visit Family History Expos or contact Holly T. Hansen at info@fhexpos.com.

Discussion is accelerating in the United States and European Union to regulate private genomic testing that provides consumers medical information, according to Science magazine and the European Journal of Human Genetics. No mention is made in the reams of white papers about ancestry testing, but some of the pitfalls and bureaucratic morasses in the thinking about true genetic/medical testing are fairly ominous, if not silly.

"Although there has been speculation about the potential psychosocial harms of testing [that is, genomic medical testing], such as an increase in anxiety or encouragement of fatalistic behavior, there are, to date, few studies addressing these concerns," writes the reporters for Policy Forum in the Oct. 8 issue of Science. "The limited evidence tends to be reassuring, even for risk information associated with relatively serious ailments...however, the scope for potential harm from unnecessary or unproven treatment after genetic risk assessment is an important unstudied question" (pp. 181f.).

We commend scientists and physicians for finding a new field of study divorced from reality but have to wonder what they will do about ancestry testing once they have conquered and tamed Frankenstein's elder monster. We suggest the following guidelines:

• Labeling on Internet sites and Zen Shopping Carts that explicitly states, "The claims for this ancestry product have not been evaluated by the U.S. Government Accountability Office (GAO), U.S. Federal Trade Commission (FTC), House Energy and Commerce Committee, Food and Drug Administration, National Institutes for Health or Department of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA 98195 USA."
• Predictive ancestry information may be hazardous to your progeny.
• No animal has been harmed in the production or clinical evaluation of this ancestry test.
• If you discover you have ancestry you did not expect, take a deep breath. Then take a healthy dose of skepticism, followed by two aspirins and a glass of water.

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.

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

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Tel. (480) 292-9820

Website:  www.dnaconsultants.com