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Genetic Genealogy Patents – A Brief Review

Yesterday, DNA Heritage issued a press release (reproduced below) regarding an opinion issued by the UK Intellectual Property. The opinion (available here) was the result of inquiry into whether claims 4-7 of a 2004 patent in England are valid. The patent, held by Bryan Sykes of Oxford Ancestors, was issued in 2004 and is directed at creating and using a database of Y-DNA haplotype information to examine surname relationships and determine the likelihood of common ancestry between individuals. The UK IPO’s opinion holds that the claims are invalid because they are either not novel, or did not require an inventive step (i.e., they were obvious). Most intellectual property offices, such as those in the UK and the US, require that an invention at least be novel and … Click to read more!

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TGG Interview Series VIII – Max Blankfeld

image The eighth edition of the TGG Interview Series is with Max Blankfeld.  Max is Vice-President of Marketing and Operations at Family Tree DNA, one of the largest genetic genealogy companies in the world.  In addition, together with Bennett Greenspan, Max launched DNA Traits, a company that tests DNA for genetic diseases and inherited conditions.  Max is a frequent contributor to genetic genealogy mailing lists and has answered many people’s questions about testing, results, an the field in general.

From the “About” page at Family Tree DNA:

“Originally from Brazil, received his BBA from Fundação Getulio Vargas, and MBA from Rice University. While his first college education was in the field of Aeronautical Engineering, he gave it up to become a foreign correspondent. After that, he started and managed several successful ventures in the area of public relations as well as consumer goods both in Brazil and the US.”

In the following interview, Max discusses his lengthy roots with genetic genealogy, the launch of DNA Traits, and the future of genetic genealogy.

TGG: How long have you been actively involved in genetic genealogy, and … Click to read more!

15

The Genetic Mess in California – A Round-Up, and My Thoughts

On June 9, 2008, the California Department of Public Health sent cease and desist letters to 13 companies that offer genetic testing. According to the letters, the companies are in violation of certain sections of the Business and Professions Code of California, including offering “a clinical laboratory test directly to the consumer without a physician order” since such tests “must be ordered by a physician or surgeon” (according to these officials). Copies of the letters are available here. The companies receiving letters are:

  • 23andMe
  • CGC Genetics
  • deCODEme Genetics
  • DNA Traits
  • Gene Essence
  • HairDX LLC
  • Knome
  • Navigenics
  • New Hope Medical
  • Salugen
  • Sciona Inc
  • Smart Genetics
  • Suracell Inc

I’m entering this discussion late, although I’ve been watching with great interest. What I’ve noticed is that much of the discussion, both in the blogosphere and the media, is confusing or ignoring the fact that there are actually … Click to read more!

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Complete Neanderthal Genome Sequenced – Differs from CRS at 133 Positions

iStock_000003743546XSmall GenomeWeb Daily News published a story on Friday entitled “En route to Neandertal Genome, Researchers Analyze Its Complete Mitochondrial Genome” which revealed the results of recent Neanderthal mtDNA analysis.

On Thursday May 9th, Svante Pääbo spoke at the Biology of Genomes meeting at Cold Spring Harbor Laboratory. Pääbo’s group, along with 454 Life Sciences, is currently engaged in a project to sequence the Neanderthal genome. The researchers have been able to sequence the complete Neanderthal mtDNA genome with 35-fold coverage. The genome is approximately 16 kilobases long and differs from the CRS at 133 positions. From what I’ve been able to find online, it doesn’t appear that the actual sequencing results have been released to the public. Given current estimates of mtDNA mutation rates, the number of … Click to read more!

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Press Release From The Newly-Created DNA Fund

Last week I received a press release announcing the creation of a non-profit organization to raise and disseminate funds to increase original research in genetic genealogy testing (some of which will undoubtedly be reported in the open-source Journal of Genetic Genealogy). The DNA Fund also has a blog, available here. Following is the press release:

SALIDA, CA – The DNA Fund, (www.dnafund.org), a new non-profit organization has been established to fund DNA testing scholarships and grants for ancestral DNA studies. Currently in Phase 1 of the Fund’s launch, testing monies will be raised through fundraising affiliates. Scheduled for Phase 2, the Fund will accept donations and in Phase 3, coordinate grants for DNA projects and studies.

“DNA testing is usually considered a luxury item, but the knowledge that it provides is invaluable. The goal of The DNA Fund is to test as many people as possible and share the information in the public domain through publications and databases.” says DNA Fund President, Katherine Borges. “People can support The DNA Fund just by using our affiliates for their normal shopping habits. The affiliates give a percentage of the purchases back which can be channeled into DNA testing funds.”

The DNA Fund is the first entity of its kind to provide funding for public genetic genealogy projects and other ancestral DNA studies.

Some of the projects proposed by The DNA Fund for funding … Click to read more!

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Kwäday Dän Ts’ìnchi – "Long-Ago Person Found"

image Around the year 1700, a relatively healthy young hunter was walking along a glacier in land that would one day be British Columbia in Canada. He wore a robe of 95 animal skins, perhaps gopher or squirrel, stitched together with sinew, and carried a walking stick, iron-blade knife, and spear thrower. For some reason, the young man, aged 17 to 22, died on the glacier and was quickly incorporated into the ice. There he remained, frozen, for the next 300 years.

In August 1999, three hikers noticed a walking stick, fur, and bone lying on a melting glacier (60′ N 138′ W). The young hunter, renamed Kwäday Dän Ts’ìnchi in the Southern Tutchone language of the Champagne and Aishihik First Nations, was removed by scientists for analysis (see the NY Times article, and the Journal of Canadian Archaeology article). From an article … Click to read more!

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Human mtDNA Diversity Before Migration Out of Africa

image Yesterday, a very interesting paper was published in the American Journal of Human Genetics by the Genographic Project Consortium entitled “The Dawn of Human Matrilineal Diversity.” The results of the study, which examined the 624 mtDNA genomes from sub-saharan Haplogroup L lineages, suggests that humanity once split into two small groups with one group in eastern Africa and the other in southern Africa, and that humanity bottlenecked into a relatively small number of individuals (as few as 2,000 based on results from a previous study). Note, as always, that these are hypotheses based upon the results of this and other studies, and will require further research to support or refute.

Two mtDNA Branches

The human mtDNA tree has two main branches, the L0 branch which includes individuals … Click to read more!

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Finally, GINA Gets Her Day

iStock_000005432570XSmall On April 27, 2007, I wrote “GINA: A Primer“, which was an introduction to the Genetic Nondiscrimination Act. Today, nearly a year later, the bill will most likely be voted on and passed by the Senate, the last step before being handed over to President Bush to sign into law (which he has indicated that he will do). As I wrote last April:

“GINA aims to protect individuals in a variety of different areas. The legislation would prohibit access to genetic information by insurance companies and would prohibit insurance companies from discriminating against an applicant based on genetic information, the refusal to submit genetic information, or for have been genetically tested in the past. Additionally, the Act would prohibit employers from using or collecting genetic information to make employment decisions. The Act also establishes a Genetic Nondiscrimination Study Commission that is charged with reviewing new developments in the field of genetics and advising Congress.”

This bill is considered by many to be an important first step in providing protections against the misuse of recent and future developments in genetic sequencing and analysis technology.

There is a great deal of information about today’s vote:

There is also some very recent information from the Center for American Progress entitled “Genetic Nondiscrimination: Policy Considerations in the Age of Genetic Medicine” (full pdf report here).  The Center (which I am not familiar with) also has a … Click to read more!

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Genetic Genealogy, Public Databases, and Criminals

The Washington Post has an article entitled “From DNA of Family, a Tool to Make Arrests” about using DNA obtained from family members to search DNA databases or identify relatives as criminals. Here is a summary of the issue from a recent Columbia Law review article available here (pdf):

For years, law enforcement personnel have compared DNA found at crime scenes with that of a convicted offender. Recently, a new technique has
begun to focus on the genetic similarity of biological relatives. Now, if a crime scene sample partially matches the DNA profile of a previous offender, law enforcement can investigate and possibly arrest that person’s family members. This process is called familial DNA testing and will significantly increase the amount of genetic information contained in the FBI’s Combined DNA Index System (CODIS), which consolidates local, state, and federal DNA databanks into a uniform body of data.

Hank T. Greely, a law professor at Stanford, is mentioned late in the article. Mr. Greely is an expert on this topic and has written a number of articles including “Family Ties: The Use of DNA Offender Databases to Catch Offenders’ Kin” (34 J.L. Med. & Ethics 248, 250–51 (2006)). Mr. Greely has argued, as have others, that this type of testing will disproportionately affect minorities such as African Americans because every year “more than 40 percent of people convicted of felonies in the United States are African American.” As Greely points out in the Washington Post article:

“If the national database were used for familial searching, he said, and assuming that on average each person whose profile in the database has five first-degree relatives, authorities would be “putting under surveillance” roughly a third of the African American population, compared with about 7.5 percent of the European American population, he said.”

Genetic … Click to read more!

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Essay Contest Reveals Misconceptions of High School Students in Genetics Content

The American Society of Human Genetics announced a press release out today about a study of student essays submitted as entries in the National DNA Day Essay Contest in 2006 and 2007. The ASHG’s education staff examined 500 of the 2,443 essays and found that 55.6% of the essays contained at least one “obvious” misconception, and 20.2% contained two or more misconceptions.

At first glance I was a little concerned about mining these essays – notably submitted by eager students to win a contest – for this type of information, but then I concluded that the authors of the essays must have assumed that they were being evaluated based on the accuracy of their statements. Additionally, the ASHG took careful steps to preserve anonymity.

The panel concluded that “misconceptions about genetics remain … Click to read more!