The Genetic Genealogist

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“You Can’t Handle the Truth” – an Article Arguing Against Increased Federal Regulation of DTC Genetic Testing

Alzheimer disease A recent article by Ronald Bailey in reasononline asks whether genetic tests actually need more federal regulation.  It’s probably clear that I strongly support the individual’s right to their own genetic information via DTC testing, but this viewpoint is rarely seen or endorsed in the press.  Bailey concludes:

“There may well be some inaccurate tests and there will certainly be people who mislead customers about the meaning of certain tests. But do we really need additional federal regulation to weed out bad actors? Most evidence suggests that the current tests are fairly accurate, and that customers are not being misled by the results that are reported. All new technologies involve a societal learning process in which some early adopters try it out, explain to others how it works, and find out its flaws—which newer innovators then fix.”

Accuracy of DTC Testing

The article also briefly discussed the accuracy of DTC testing (something I’ve covered here before – Accuracy of Large-Scale Genome Scanning Services):

“[The author] asked Princeton University molecular biologist Lee Silver via email how accurate the DTC genotype scanning tests are. “I ran an analysis on personal genome results obtained from 23andMe and DeCODE for me,” Silver replied. “There were about 300,000 data points that overlapped between the two tests. There was not a single data point (among 300,000) that was scored positive in one test and negative in the other.” Silver is satisfied with accuracy of such screening tests.”

GeneTree and Sorenson Molecular Genealogy Foundation Team Up to Offer Y-DNA Participants of SMGF Database a Greatly Reduced Price on Genetic Profile

SALT LAKE CITY (May 26, 2009) – GeneTree and Sorenson Molecular Genealogy Foundation (SMGF) today announced a special offer to the tens of thousands of men who donated their Y-DNA samples and pedigree information to the non-profit SMGF’s genetic genealogy database. At a deeply discounted price, participants now may access their Y-DNA profiles through GeneTree and employ the site’s extensive tools, including the SMGF database, to search and connect with genetic relatives.

SMGF has been building the database-the world’s most diverse collection of genetic genealogy information-since 2000 through donation of DNA samples and four-generation genealogy questionnaires by people interested in helping the foundation succeed in its goal of connecting the human family through genetic genealogy. Until the launch of GeneTree in Oct. 2007, SMGF did not have a way to provide participants with their genetic profiles in a meaningful form. Now for $49.50, or about one-third of the typical price, SMGF participants can receive their Y-DNA profiles through GeneTree.

“We are delighted to be able to thank those who chose to help the SMGF database project,” said Matt Cupal, president and COO of GeneTree. “We think the easy-to-use and powerful genetic genealogy tools on GeneTree will help them get the most out of their DNA profiles and help them understand their own history within the larger human genetic story.”

Y-DNA is genetic material passed down exclusively from a father to sons. SMGF participants who submitted their mitochondrial DNA, passed down from a mother to each child, received a similar offer in March 2008, and may still unlock their mitochondrial DNA profile through GeneTree for $49.95.

“We believe this is the finest way we can express our appreciation to individuals who helped build the SMGF database into the foremost genetic genealogy collection of its type in the world,” said Dr. Scott Woodward, executive director of SMGF. “Collaboration with GeneTree allows us to provide contributors with their DNA profiles in a useful and confidential manner.”

Currently, the SMGF database contains more than 100,000 DNA samples and over 7.5 million corresponding genealogical records from participants in 170 nations throughout the world.

Instructions for obtaining SMGF DNA profiles for participation on GeneTree are available at www.genetree.com/dna/unlock_smgf. Approximately two weeks after receipt by GeneTree of the participant’s request, results will be available on the GeneTree Web site.

Beyond free basic membership, GeneTree offers 33-marker Y-DNA tests for $149 and 46-marker tests for $179. Enhanced maternal lineage mitochondrial DNA tests are $179.

About GeneTree
GeneTree (www.genetree.com) is mapping the world’s DNA using genetic genealogy. GeneTree’s Web site allows easy connection to genetic cousins, collaboration on family trees, and sharing of personal profiles and photos. GeneTree also provides the option for participants to integrate into their family history research their DNA profiles, through one of the world’s most respected DNA laboratories, for a scientific window into their ancestry and to find living relatives for whom no paper records exist. GeneTree users are linked to the world’s most extensive correlated genetic genealogy database.

About Sorenson Molecular Genealogy Foundation
The Sorenson Molecular Genealogy Foundation (SMGF; www.smgf.org) is a non-profit research organization that has created the world’s largest repository of correlated genetic and genealogical information. The free, publicly available SMGF database currently contains information about more than seven million ancestors through linked DNA samples and pedigree charts from more than 170 countries, or approximately 90 percent of the nations of the world. The foundation’s purpose is to foster a greater sense of identity, connection and belonging among all people by showing how closely we are connected as members of a single human family.

The Mystery of Benjaman Kyle (Powell?) – An Update

image In January I wrote about Benjaman Kyle, an amnesiac who was found on August 31, 2004 next to a dumpster behind a Burger King in Richmond Hill, Georgia.  In that post, “Using Genetic Genealogy to Solve the Mystery of Benjaman Kyle,” I suggested that a Y-DNA test might be helpful in elucidating Mr. Kyle’s biological surname.  Y-DNA testing has shown to be highly useful for identifying unknown surnames (see here and here), and so I contacted Mr. Kyle to suggest the possibility.

The Results Are In

Shortly thereafter, Mr. Kyle took a 67-marker test from Family Tree DNA.  The results, announced it seems by Kimberly Powell of Kimberly’s Genealogy Blog, suggest that his surname might actually be POWELL or a variant thereof.  His results are now part of the Powell Surname DNA Project as kit #140314 where he very closely matches the “Joseph Powell Group.”  See more here.  From Kimberly’s post:

A 50/60 year old amnesia victim going by the name of Benjaman Kyle recently had his Y-DNA tested in an attempt to learn something about his origins; resulting in a close 37 marker connection with several members of the POWELL Surname DNA surname project at FamilyTreeDNA. Interestingly, just like the Unclaimed Persons Web site, founded by Megan Smolenyak, which brings together genealogists with medical examiners, coroners, and investigators searching for next of kin of recently deceased individuals, amnesia victims also have groups of volunteers who help try to reunite them with family. You can read more of the discussion on Benjaman Kyle at WebSleuths.com, which is where using genealogy as a possible tool was suggested.

The Indianapolis Star ran a story last month – Man with Amnesia Still Searching for his Past – that mentioned the DNA testing but failed to mention the potential POWELL link.

Proof?

This isn’t proof that Benjaman’s last name before he suffered from amnesia was Powell.  He might have legally changed his name, or there might have been some other non-paternal event that introduced the Y-DNA into the family (infidelity, adoption, etc…) such that Benjaman possessed the [potentially] Powell Y-DNA at birth but did not have the Powell surname.  In any event, this is a new clue that might help Mr. Kyle rediscover his identity.

DNAPrint Genomics Ceases Operations

dnaprintgIn February, I received a number of comments and emails which suggested that DNAPrint Genomics was not processing results and could not be reached by telephone.  DNAPrint was one of the first companies to offer ‘large-scale’ autosomal testing, although their tests were unable to compete with the testing currently offered by companies like 23andMe and deCODEme.

Indeed, the company has recently ceased operations.  From the site: “DNAPrint® Genomics, Inc. has regrettably ceased operations. We thank you for your support.”  As I wrote last February, the company was scheduled to be purchased by Nanobac Pharmaceuticals, but the deal fell through shortly thereafter.

GenomeWeb Announces DNAPrint’s Demise

From an announcement today at GenomeWeb – “DNAPrint Genomics Goes Bust”:

NEW YORK (GenomeWeb News) – Genetic testing company DNAPrint Genomics has shut down its operations, according to a notice on its website.

The Sarasota, Fla.-based firm shut down operations sometime during the past month. Its most recent filing with the US Securities and Exchange Commission was on Feb. 9, in which it announced that its President and CEO Richard Gabriel had resigned from the firm as well as its subsidiaries Ellipsis Biotherapeutics and Trace Genetics.

The cash-strapped firm, which had been trading on the Pink Sheets, had inked a deal a year ago to be acquired by Nanobac Pharmaceuticals. However, the deal fell apart after Nanobac was unable to raise additional funds before a deadline on March 31, 2008.

Attempts by GenomeWeb Daily News to reach company officials were unsuccessful.

Large-Scale Genetic Genealogy Privacy Concerns

thegeneticgenealogist1 I’ve been working on a presentation regarding the future of genetic genealogy, and one aspect of that future is the ability to trace DNA (SNPs, mutations, haplogroups, etc…) through recent history as the result of combining extensive genomic sequencing with massive family tree information.  Although the ability to do this will have many uses (both for genealogy and for personalized medicine), it will also raise a number of privacy issues, as a recent paper suggests.

A New Privacy Study

In “Inferential Genotyping of Y Chromosomes in Latter-Day Saints Founders and Comparison to Utah Samples in the HapMap Project,” author Jane Gitschier uses a combination of FamilySearch (http://www.familysearch.org) and Sorenson Molecular Genealogy Foundation (http://www.smgf.org/) to elucidate the Y-chromosome signature of two founders of the LDS Church.  Gitschier then used that information to determine whether anyone who contributed DNA to the HapMap project was related to these individuals via the Y-chromosome (none appeared to be).  However, Gitschier was able to predict the surname of many of the HapMap participants using these databases.

This research is related to two posts I wrote last October about using genetic genealogy results to determine surnames (“DNA Could Reveal Your Surname, Of Course,” and “More On Revealing Surnames Using Genetic Genealogy”).  I first mentioned this research last September when I highlighted some of the most interesting abstracts submitted for the American Society of Human Genetics’ November meeting (see here).

The Abstract:

“One concern in human genetics research is maintaining the privacy of study participants. The growth in genealogical registries may contribute to loss of privacy, given that genotypic information is accessible online to facilitate discovery of genetic relationships. Through iterative use of two such web archives, FamilySearch and Sorenson Molecular Genealogy Foundation, I was able to discern the likely haplotypes for the Y chromosomes of two men, Joseph Smith and Brigham Young, who were instrumental in the founding of the Latter-Day Saints Church. I then determined whether any of the Utahns who contributed to the HapMap project (the “CEU” set) is related to either man, on the basis of haplotype analysis of the Y chromosome. Although none of the CEU contributors appear to be a male-line relative, I discovered that predictions could be made for the surnames of the CEU participants by a similar process. For 20 of the 30 unrelated CEU samples, at least one exact match was revealed, and for 17 of these, a potential ancestor from Utah or a neighboring state could be identified. For the remaining ten samples, a match was nearly perfect, typically deviating by only one marker repeat unit. The same query performed in two other large databases revealed fewer individual matches and helped to clarify which surname predictions are more likely to be correct. Because large data sets of genotypes from both consenting research subjects and individuals pursuing genetic genealogy will be accessible online, this type of triangulation between databases may compromise the privacy of research subjects.”

23andMe and mondoBIOTECH Announce Partnership

imageimage

23andMe and mondoBIOTECH announced at Davos (the World Economic Forum in Switzerland) today that they will work together to further the study of rare diseases.  According to the press release (below), mondoBIOTECH will identify individuals suffering from certain rare diseases and sponsor their enrollment in the 23andMe Personal Genome Service™.  Researchers will use the information collected to learn more about the potential causes of these rare diseases.

CNBC Video:

Linda Avey appeared on CNBC this morning to discuss the company and the partnership – see “It’s All in the Genes.”

The Press Release:

Davos, Switzerland – January 28th 2009 – 23andMe, Inc., an industry leader in personal genetics, and Mondobiotech AG, a Swiss research company dedicated to the development of treatments for rare diseases, today announced at the World Economic Forum in Davos, Switzerland, that they are collaborating to advance research of rare diseases.

The announcement marks the return of the companies to the World Economic Forum, where they both were recognized as Technology Pioneers in 2008. 23andMe and Mondobiotech will work together to facilitate research of the genetic bases of rare and potentially fatal diseases, such as Pulmonary Arterial Hypertension, Sarcoidosis, and Pulmonary Fibrosis, the genetics of which are poorly understood. Mondobiotech will identify individuals suffering from certain rare diseases and sponsor their enrollment in the 23andMe Personal Genome Serviceâ„¢. Researchers then will be able to study the genetic information collected, along with any phenotypic information provided, in clinical trials, to understand potential causes of these diseases. 23andMe will coordinate genome-wide association studies for Mondobiotech affiliates using its research infrastructure and bioinformatics expertise.

The Illumina (NASDAQ: ILMN) DNA Analysis technology used by 23andMe is the world’s leading technology for genome-wide association studies and has the unique capability to include custom markers. This feature enabled 23andMe to select SNPs (single nucleotide polymorphisms), or variants that provide coverage of genes associated with drug response, information that is proving to be critical for the development of personalized medicine. In addition to having over half a million markers available for disease research, these “pharmacogenetic” indicators included in the 23andMe dataset could provide invaluable information for identifying treatment protocols.

“We are eager to take an active role in advancing research of rare genetic disorders,” said Linda Avey, co-founder of 23andMe. “By partnering with our colleagues at Mondobiotech, a company acutely focused in this area, we’ll be able to leverage the genetics and bioinformatics expertise of our science team toward better understanding of these often devastating conditions.”

“For years, we have been working on behalf of neglected and underserved disease communities to help improve the lives of people with rare and fatal diseases,” said Fabio Cavalli, Chief Executive Officer of Mondobiotech. “When we met the founders of 23andMe last year at Davos and saw what they were doing with genetics, we knew that a collaboration between the two companies could go a long way towards understanding the causes of the diseases we have been researching.”

About 23andMe

23andMe, Inc. is the leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company’s Personal Genome Service™ enables individuals to gain deeper insights into their ancestry and inherited traits. 23andMe, Inc., was founded by Linda Avey and Anne Wojcicki in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. Its Series A investors include Genentech, Inc., Google Inc. (NASDAQ: GOOG) and New Enterprise Associates.

More information is available at www.23andme.com.
About Mondobiotech

Mondobiotech is the Swiss open source biotech aiming to improve the health of patients affected by rare diseases. Mondobiotech currently has a product pipeline of more than 300 peptides as treatment options for more than 600 rare diseases. The company licenses out their products to companies, foundations and private persons who are interested in improving the status of affected patients. The company has obtained 6 Orphan Medical Product Designations in Europe and in the US and licensed 7 products to BiogenIdec (NASDAQ: BIIB), InterMune (ITMN), United Therapeutics/LungRx (UTHR). Mondobiotech was selected Technology Pioneer 2008 by the World Economic Forum.

For more details, please visit www.mondobiotech.com.

Stephen Pinker, The New York Times, and Counsyl

imageAlthough I can hardly hope to introduce or discuss these recent events any better than Daniel MacArthur has already given at Genetic Future, I will at least bring this new information to your attention.

Last Wednesday the New York Times printed “My Genome, My Self”, an article written by Stephen Pinker, one of the Personal Genome Project’s “First 10.”  In the article, Pinker talks about his experience with genome sequencing through the PGP.  It is especially interesting since Pinker analyzes the issue from the point of view of a psychologist.  I highly recommend reading this article if you are at all interested in personalized medicine or genetics.

Much of the article discusses the confusing results that are returned by genome/disease analysis, due to our current lack of understanding in this enormous field:

“It became all the more confusing when I browsed for genes beyond those on the summary page. Both the P.G.P. and the genome browser turned up studies that linked various of my genes to an elevated risk of prostate cancer, deflating my initial relief at the lowered risk. Assessing risks from genomic data is not like using a pregnancy-test kit with its bright blue line. It’s more like writing a term paper on a topic with a huge and chaotic research literature. You are whipsawed by contradictory studies with different sample sizes, ages, sexes, ethnicities, selection criteria and levels of statistical significance. Geneticists working for 23andMe sift through the journals and make their best judgments of which associations are solid. But these judgments are necessarily subjective, and they can quickly become obsolete now that cheap genotyping techniques have opened the floodgates to new studies.”

Pinker and Genetic Genealogy

Pinker, who has had mtDNA and Y-DNA ancestry testing, discusses these results as well:

“It’s thrilling to find yourself so tangibly connected to two millenniums of history. And even this secular, ecumenical Jew experienced a primitive tribal stirring in learning of a deep genealogy that coincides with the handing down of traditions I grew up with. But my blue eyes remind me not to get carried away with delusions about a Semitic essence. Mitochondrial DNA, and the Y chromosome, do not literally tell you about “your ancestry” but only half of your ancestry a generation ago, a quarter two generations ago and so on, shrinking exponentially the further back you go. In fact, since the further back you go the more ancestors you theoretically have (eight great-grandparents, sixteen great-great-grandparents and so on), at some point there aren’t enough ancestors to go around, everyone’s ancestors overlap with everyone else’s, and the very concept of personal ancestry becomes meaningless. I found it just as thrilling to zoom outward in the diagrams of my genetic lineage and see my place in a family tree that embraces all of humanity.”

Counsyl – A New Player in the Field

In the article, Pinker references a new entrant in the field of personalized medicine, Counsyl:

“The genes analyzed by a new company called Counsyl are more actionable, as they say in the trade. Their “universal carrier screen” is meant to tell prospective parents whether they carry genes that put their potential children at risk for more than a hundred serious diseases like cystic fibrosis and alpha thalassemia.”

According to their website, Counsyl plans to offer a saliva-based test for more than 100 serious genetic diseases.  The test will be offered directly to consumers through the website, as well as through medical centers in the U.S.  There is no launch date set.

In addition to the articles at Genetic Future, you can read more reactions to this piece at:

Humans Entered the Americas in More Than One Wave

image An international team of researchers have concluded that humans entered the Americas from Asia along at least two different paths.  By studying two rare mtDNA haplogroups found in Native Americans – D4h3 and X2a – the researchers conclude that D4h3 spread into the Americans along the Pacific coast while X2a entered through the ice-free corridor between the Laurentide and Cordilleran ice sheets.

From the Press Release:  “Six major genetic lineages account for 95 percent of Native American mtDNA and are distributed everywhere in the Americas,” said first author Ugo Perego, director of operations at SMGF. “So we chose to analyze two rare genetic groups and eliminate that ‘statistical background noise.’ In this way, we found patterns that correspond to two separate migration routes.”

To conduct the study, the scientists searched the Sorenson database for Native American mtDNA and then sequenced the entire mtDNA genome of some of the samples.

There is more coverage at Dienekes’ Anthropology Blog and The Spittoon.

The entire Press Release:

SALT LAKE CITY and PAVIA, Italy (Jan. 8, 2009)—Genetic researchers from the Sorenson Molecular Genealogy Foundation (SMGF) in Salt Lake City working with scientists from the University of Pavia in Italy today published a study shedding new light on the puzzling question of why Native Americans exhibited such extraordinary linguistic and cultural diversity when the first Europeans arrived in 1492.

Featured on the cover of Current Biology journal, the striking finding by an international team of researchers challenges the traditional idea that the first groups of humans to colonize the Americas came from a single population source, which would imply one language family, technology and culture, when they crossed an Ice Age land bridge connected to Asia 15-17,000 years ago.

By analyzing for the first time at the highest level of molecular resolution two rare lineages of the maternally inherited mitochondrial DNA (mtDNA) from modern Native Americans, geneticists identified separate migratory paths that marked the initial stages of human colonization. Traveling concurrently, one genetic group of Paleo-Indians followed the Pacific coastline route and arrived at the southern tip of South America, while the second group followed an ice-free corridor east of the Rocky Mountains and settled in the Great Plains and Great Lakes regions.

The evidence that separate groups of people with distinctive genetic roots entered the Americas independently at the same time strongly implies linguistic and cultural differences between them. “The origin of the first Americans is very controversial to archaeologists and even more so to linguists,” said study corresponding author Professor Antonio Torroni, heading the University of Pavia group. “Our genetic study reveals a scenario in which more than one language family could have arrived in the Americas with the earliest Paleo-Indians.” Torroni is a world-renowned population geneticist in the field of mtDNA research and the first to identify the major genetic groups to which 95 percent of Native Americans belong.

In March 2008, the same research team published a study that was the first to compile all known Native American mtDNA sequences into a single genetic tree with branches dated. Results showed almost all modern Native Americans descended from six ancestral founding mothers. They used the built-in molecular clock of DNA to establish the time the first humans moved into the Western Hemisphere, finding a narrow window between 15-17,000 years ago.

For both studies researchers combed the Sorenson database—the world’s largest collection of correlated genetic genealogy information containing DNA collected in more than 170 countries—for mtDNA belonging to Native American lineages. Then, using techniques developed at the University of Pavia, the samples were analyzed using a complete-mtDNA genome approach for the first time.

“Six major genetic lineages account for 95 percent of Native American mtDNA and are distributed everywhere in the Americas,” said first author Ugo Perego, director of operations at SMGF. “So we chose to analyze two rare genetic groups and eliminate that ‘statistical background noise.’ In this way, we found patterns that correspond to two separate migration routes.”

Today’s study analyzed two rare genetic groups. D4h3 spread into the Americas along the Pacific coast and, at the same time, X2a migrated inland through an ice-free corridor between the Cordilleran and the Laurentide glaciers. The D4h3 group is rare today in North America, while X2a is found exclusively in the U.S. and Canada, mainly in the Great Lakes and Great Plains regions. The six most common Native American mtDNA lineages are A2, B2, C1b, C1c, C1d and D1.

“This study does not end the debate,” said co-author Dr. Alessandro Achilli, researcher at the University of Pavia and assistant professor at the University of Perugia, “but the implications of our findings are significant. The distinct industries and technologies observed in North American archeological sites might be related to separate genetic groups using different migratory routes rather than being the result of in situ differentiation. Future research will dissect common pan-American lineages into sub-branches, and we do expect distribution of some of these subgroups will parallel that of D4h3 and X2a.”

The study, “Distinctive Paleo-Indian Migration Routes from Beringia Marked by Two Rare MtDNA Haplogroups,” was published online today by Current Biology and will be the cover story for the print version on Jan. 13, 2009.

Using Genetic Genealogy to Solve the Mystery of Benjaman Kyle

Bkcleanshaven I recently wrote about using genetic genealogy to potentially identify a male’s unknown surname.  Although I had in mind using DNA to find an adopted male’s biological surname, the method has numerous other applications.  For instance, it can be used in an attempt to identify the surname of a male who has forgotten his biological surname.

A Mystery Man

Just before 7 a.m. on August 31, 2004, an adult male was found lying next to a dumpster behind a Burger King in Richmond Hill, Georgia.  He was naked, beaten, sunburned, and covered in bites from fire ants.  Benjaman Kyle, as he has decided to call himself (note the BK connection), eventually recovered from his physical ailments but was unable to remember anything about himself or his past.  To this day, he cannot remember anything, although he claims to have vague memories or affiliations for certain things.  For example, he appears to have some background knowledge of restaurant equipment and design.  Surprisingly, he does not match any known missing person report, and no one has come forward with knowledge of his identity, despite considerable media coverage.  For more background information about Benjaman Kyle, see “A Real Live Nobody” in SavannahNow.

A Suggestion for Benjaman Kyle

So how can genetic genealogy potentially help Benjaman?  He could, for example, join the Adopted Group Project at Family Tree DNA and order a 67-marker test (more info here).  Armed with these results, Benjaman could mine the public databases – including FTDNA’s database, Ysearch, and Ybase – to look for matches.  If he finds a very close match (for instance, 67 out of 67 markers), then there is a strong possibility that the two individuals will share the same surname, or at least reveal a starting point for further research.  The largest caveat to this method is that one of Benjaman Kyle’s male relatives must have taken a genetic genealogy test and made the results available.  However, given that as many as 500,000 to 800,000 people have already undergone genetic genealogy testing and as many as 50,000 to 100,000 people try genetic genealogy every year, it is certainly possible that a male relative has been tested.

Recent Research

In October, I wrote “DNA Could Reveal Your Surname, Of Course,” which discussed a new paper from the lab of Mark Jobling (see the project background here).  His research suggested that there is a 24% chance that two men who share the same surname share a common ancestor through that name, and this increases to nearly 50% if the surname they share is rare. The press release for the paper stated: “the fact that such a strong link exists between surname and Y chromosome type has a potential use in forensic science, since it suggests that, given large databases of names and Y chromosome profiles, surname prediction from DNA alone may be feasible.”

Thus, I recommend that Mr. Kyle use genetic genealogy to potentially identify his biological surname.

Genetic Genealogy in the News – January 1, 2009

umair shuaib.

Image via Wikipedia

HAPPY NEW YEAR!  I hope everyone is enjoying a relaxing start to the new year.  Thank you for reading TGG in 2008, and I hope you are as excited as I am about the developments in genetic genealogy that 2009 is sure to bring!

Here is a recap of some of the most recent news in genetic genealogy and personalized genomics in the end of 2008:

Personalized medicine covered in the New York Times.

Dr. Marjolein Kriek, First Woman to Have Her DNA Sequence Determined (HT: Megan Smolenyak).

DNA results show no link to ancient human remains – About 230 Native people participated in study to find Shuká Kaa descendants.  Dr. Brian Kemp, who I interviewed back in 2007, is attempting to find maternal relatives of 10,300 year-old remains named Shuká Kaa (Man Before Us) who is Haplogroup D.  Native Americans are often reluctant to donate their DNA, and this collection represents a huge sampling of Native mtDNA.  I hope the sequences will be shared.  See more here and here.

The Spittoon, 23andMe’s blog, has really focused on genetic genealogy this month.  There are two interesting articles, one regarding the Y-chromosome and one regarding the X-chromsome.  “ What’s in a Name: Surnames and the Y-Chromosome” and “X Marks the Spot: New Study Reveals Value of X-Chromosome in Tracing Prehistoric Human Migrations.”

Look into the eyes of the PGP-10 at Genetic Future – Daniel MacArthur posts photos of the Personal Genome Project’s “First 10” and discusses the current phase of the PGP.  Additionally, The Personal Genome has a “Video Interview with Stanley Lapidus of the PGP-10”.

2008 in review: Ethnicity Strikes Back at Dienekes’ Anthropology Blog.  From the post: “It is now clear that ethnic groups are not only cultural-political formations, but also (at least in part) distinct biological entities, emerging naturally as clusters of similarity from the genetic continuum.”  Be sure to read the comments for an interesting and heated discussion.

Thomas Goetz has a blog called “The Decision Tree,” which will also be the name of a new book that Goetz is writing about the shift from physician-directed medical treatment to patient-directed treatment, including a perspective on personalized genetics.  A re-launching post is here – I highly recommend subscribing to this blog.  Attila has further discussion with “The Decision Tree: Thomas Goetz’s upcoming book on predictive/personalized medicine.”

David Ewing Duncan writes “Discount DNA” at Portfolio.com about Complete Genomics.  See discussion at Genetic Future, and a similar article at Cosmic Log.