Published today at MATTER is “Uprooted,” an in-depth look at genetic genealogy and DNA testing. The article contains numerous quotes from several names you’ll recognize, including CeCe Moore and me. Much of the story focuses on genealogist Cheryl Whittle and her roller-coaster quest to find her biological roots using DNA testing. From the preview of the roughly 10,000 word article:
“In Issue 11 of MATTER, award-winning writer Virginia Hughes tells Cheryl’s story, and describes how the twin revolutions of the internet and DNA testing have turned genealogy into a privacy minefield. After all, your genetic code is as personal as it gets — yet thanks to the web, you are no longer the only person who gets to control it.”
At Salon, an article entitled “The college class that could reveal your real father” by Katya Cengel discusses a course at Stanford called “Genetics 210.” The class uses [entirely optional] 23andme testing to explore the many issues associated with genetic testing. Although the class is offered to both graduate and undergraduate students, the class is filled with mostly graduate students.
All students go through the informed consent process carefully, and have access to a genetic counselor and a psychiatrist (although according to the report not a single student has contacted the psychiatrist in the four semesters the course has been offered, and only two have contacted the genetic counselor).
The most interesting aspect of the article, to me, was the complication that identical twins pose to genetic testing. Epigenetic differences aside (which are currently NOT tested), a genetic test for one will directly apply to the other. So what happens when one twin wants to know and the other doesn’t?
DNATraits, a division of Houston-based genomics and genetics testing company Gene By Gene, Ltd., (parent company of Family Tree DNA) just announced a press release regarding today’s decision in Association for Molecular Pathology, et al. v. Myriad Genetics, Inc. patent case regarding the human BRCA1 and BRCA2 genes
Supreme Court Ruling Today Allows DNATraits to Offer Low Cost BRCA Breast and Ovarian Cancer Gene Testing in U.S.
In effort to increase access to potentially lifesaving BRCA1 and BRCA2 tests, DNATraits can now offer tests for $995, a fraction of the cost of similar tests prior to the court decision
HOUSTON — Jun. 13, 2013 – Thanks to today’s U.S. Supreme Court decision opening the door to greater access to genetic medicine by American patients and their health care providers, testing for genes specifically linked to breast, ovarian and other cancers will now be more widely available and at a lower cost than ever before.
The reason for the addition, said CEO and co-founder Anne Wojcicki, is to push for more customer growth — 23andMe is trying to reach one million members by the end of the year — and the scaling of its operations.
Page, who will report to Wojcicki, will be in charge of a wide swath of 23andMe, including product and engineering, marketing, finance, business development, laboratory operations and legal and regulatory issues. He will also be tasked with helping develop business strategy.
The event was an incredible success, with stellar speakers, inspiring and entertaining talks from Spencer Wells and Henry Louis Gates, Jr., and excellent organization and execution.
Below is just a brief summary of the highlights I believe are worth mentioning, but be sure to check out other posts that have or will come out soon, including this one from The Legal Genealogist, and this one from Dick Eastman.
(A side note: as I was sitting in the airport waiting for my flight from Newark to San Francisco, I looked up and saw a familiar face – Judy Russell from The Legal Genealogist! We shared the next two flights, although Judy was furiously dealing with an unfortunate hack attack on her website, which has since been resolved).
Family Tree DNA’s Genomics Research Center Facilitates Discovery of Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree
— By Offering Low Cost DNA Test, Family Tree DNA Aims to Expand Reach of DNA Testing to Encourage Further Exciting Discoveries About Human Origins —
HOUSTON, March 26, 2013 /PRNewswire/ — Gene By Gene, Ltd., the Houston-based genomics and genetics testing company, announced that a unique DNA sample submitted via National Geographic’s Genographic Project to its genetic genealogy subsidiary, Family Tree DNA, led to the discovery that the most recent common ancestor for the Y chromosome lineage tree is potentially as old as 338,000 years. This new information indicates that the last common ancestor of all modern Y chromosomes is 70 percent older than previously thought.
Earlier this week, Ancestry.com began releasing raw data to purchasers of the AncestryDNA autosomal DNA product. Several others have written great articles on AncestryDNA’s new raw data, so I’ll point you to their articles instead of rehashing everything here:
But note an issue that I first brought up on a mailing list last Thursday when the announcement came out. The following language is found on the page after you click on the final download link:
The raw data is subject to the AncestryDNA Terms and Conditions and AncestryDNA Privacy Statement. You must not use the raw data in whole, in part and/or in combination with any other database for any discriminatory, breach of privacy or otherwise illegal activity (for example, to re-identify any anonymous donor or to make insurance or employment decisions).
Specifically, Genetic Technologies has alleged that 23andMe and LabCorp infringe U.S. Patent No. 7,615,342, entitled “ACTN3 genotype screen for athletic performance.” The complaint is available here.
ACTN3 (Alpha-actinin-3) is an actin-binding protein encoded by the ACTN3 gene. A particular mutation in the ACTN3 gene (rs1815739; R577X) results in a deficiency of the ACTN3 protein. The non-mutant version of the gene is associated with sprint performance, the mutant version is associated with endurance.
23andMe does analyze the rs1815739 SNP in their tests (see “Speed Gene: Fact or Fiction?”). My own rs1815739 SNP genotype, for example, is TT, meaning that I have no working copies of ACTN3 in my fast-twitch muscle fibers. From the complaint:
This weekend I had the privilege to review an advance copy of “Finding Family: My Search for Roots and the Secrets in My DNA,” a new book by author and genetic genealogist Richard Hill. The book is currently available at Amazon only in paperback (link here: Finding Family: My Search for Roots and the Secrets in My DNA), although eBook versions will be available soon.
Many genetic genealogists are already familiar with Richard Hill and his website DNA-Testing-Adviser.com, where he shares information about using genetic genealogy to learn about your family, especially for adoptees and birth parents. You may also be familiar with Mr. Hill through the front-page 2009 Wall Street Journal article detailing his search for his family, or from the 2009 article in the Grand Rapids Press (“Rockford man uses DNA testing, Internet searches to find his birth father“).
Today, The Genographic Project officially announced the launch of their new Geno 2.0 project, a significant update to the type and quantity of genetic information that will be collected and analyzed by The Genographic Project. The new project will use an entirely new SNP chip (the GenoChip) designed specifically for Geno 2.0 in order to provide the world’s most detailed information about Y-DNA and mtDNA haplogroups (using SNP information) as well as detailed biogeographical estimates and ancient population (Denisovan and Neanderthal) estimates.
As of today you can pre-order a Geno 2.0 kit, which is expected to ship no later than October 30th (although you can probably expect it earlier than that).
Once again Family Tree DNA will perform all the testing, and The Genographic Project has worked very closely with FTDNA to design, troubleshoot, and use the GenoChip. FTDNA will perform both the Family Finder and the Geno 2.0 test.