The 8th Annual Conference on Genetic Genealogy was held at the Sheraton Intercontinental North Houston on November 9-10, 2012. Bennett Greenspan opened the conference with a welcome speech that included some new information for group administrators. Usually Max does the opening, but his voice was not cooperative so Bennett had the honors this year.
Bennett Greenspan and Max Blankfeld
Bennett started by explaining the corporate structure of the company, Gene by Gene. There are four branches: ancestry, health, research, and paternity. The branch most people are familiar with is Family Tree DNA, the ancestry branch of Gene by Gene. The health branch is called DNA Traits. This branch does gene sequencing work for hospitals on a few continents and is a regulated branch. DNA DTC specializes in research and next generation sequencing including the entire exome at 80x coverage and the whole genome. Finally, DNA Findings specializes in paternity testing and immigration.
Family Tree DNA has purchased 1.5 million vials since its inception. The vials have a tethered strap on the lid, which was ultimately causing wrist strain for the lab employees and wasting valuable time and resources. Family Tree DNA discovered a company in Europe with an automatic capper and decapper that will also dispense the proteinase K to the approximately 500 sample tubes processed per day. The new tubes will have a red removable cap. More automation comes to Family Tree DNA!
While waiting for Spencer Wells to join in live via Skype, Bennett answered a question about Geno 2.0. Bennett indicated that National Geographic has decided that all people should buy Geno 2.0 through their catalog and get the nice kit that they have designed. Bennett suspects (but cannot commit!) that by 2013, NGS will allow samples already in the lab to be tested under this particular test. This will be very beneficial for those whose testers have passed away. There will not be any change in the order system during the Christmas rush. Bennett will provide an update to administrators after January 1, 2013. When the option becomes available, it will automatically appear in the upgrade screen.
Geno 2.0 Project Update
Dr. Spencer wells joined the conference live from Florence, Italy via Skype to provide a Genographic Project update. There are three core components to the National Geographic Geno 2.0 project. The field research division is the mission division. They have collected approximately 75,000 indigenous samples from more than 1,000 populations and produced more than 36 publications. For the public participation piece they partnered with FTDNA and approximately 470,000 kits have been sold all together in more than 130 countries. Spencer talked about harnessing the power of the community to gain new scientific insights. Everyone benefits when “citizen science” and the scientific community work together. The Legacy Fund is the grant giving entity within the project that gives back to endangered cultures. So far, $1.7 million in Legacy Grants have been given and they will continue their efforts to preserve culture and tradition. They have also begun a new education initiative, Geno Threads, to connect kids from classrooms around the world. If kids share lineage, the hope is that they will begin to care about other cultures.
The Genographic Project website has been completely redesigned. There are 248 new mtDNA stories and 182 Y-DNA stories. Information is based on approximately 1,000 peer reviewed publications and info from the genetic genealogy community. (Thanks again to Citizen Science!) When you log into the site, you can choose whether you would prefer to proceed anonymously or whether to register. Your Story will appear in 3 sections if male and 2 if female. These sections include “Maternal” for mtDNA, “Paternal” for Y-DNA, and “Who Am I?”, which covers autosomal DNA. Heat maps are provided. You are the center of your universe and this is the place where you can tell your own story and add it as a chapter to the human story.
Now for the important news… we will see GenoChip results in the next couple of weeks!
A couple of other tidbits…
- German, Danish, Finnish, Bulgarian, Romanian, Tuscan, Spanish, and Greek are among the reference populations. Spencer Wells said there is, “better coverage in Europe than anywhere else” and “Analyzing those separately is where we’re going in the next year.”
- When asked about limit of resolution, Spencer Wells said, “Beyond 6 generations, frequencies are too low and it gets too muddy.”
Regulating Genetic Genealogy: Does It Make Sense?
Judy Russell, The Legal Genealogist, gave a talk about some of the issues facing the Genetic Genealogy community. Judy feels that the FDA probably doesn’t care about what we do with Family Finder or even 23andMe’s Relative Finder. It is medical testing that they are concerned with. Judy reviewed how contract law relates to genetic genealogy. Judy pointed out that the Ancestry DNA consent agreement is voluntary and the way that they go about getting consent for “data analysis that may lead to and or include commercialization” is underhanded. Project members should be cautioned that joining a project will expose some info about them to the group administrator. Be cautious of information shared on the public results page of your projects. It would be wise to get informed consent from project members, but the problem lies with documenting that informed consent. Judy cited the Fox surname project as having a quality page. You can find Judy’s blog post about her adventures in speaking about regulation to a group of genetic genealogists here.
There are plenty of people who like to say that the consumer genetic tests have no biological function and that police will never look in genealogy databases. This is clearly not the case, since we do not know at this time what may be discovered in the future. GINA 2008 (Genetics Information Nondiscrimination Act of 2008) is not very broad, covering employment and health insurance only. Judy reminded us of the case where genealogist Colleen Fitzpatrick got access to certain databases and claimed that a criminal was a Fuller. In order to stop things like this, regulation would be required. Regulation could also protect individuals from things like surreptitious testing. At this point, it is not illegal in most places to take someone’s DNA. Finally, she reminded us that when we make disclosures about ourselves, we should consider who else that impacts – perhaps siblings, children, and other family members who may share genetic information.
Times are rapidly changing and these are definitely things we should all keep in mind going forward. I heard many rave reviews about Judy’s talk, which was relevant and important to the genetic genealogy community. As always, the talk was very well presented.
Getting More Out of DNA Testing with Family Finder Breakout
Cece Moore, Your Genetic Gengealogist, gave a great talk about a subject that is near and dear to her heart — and mine, too! CeCe started with an overview of cellular structure and inheritance patterns and then got down to the good stuff, making speadsheets to sort data. (Uh oh, my nerd is showing.) I don’t want to share the details of making the spreadsheets, because I’m hoping CeCe will do that herself. During this breakout session, four people spent five minutes each sharing their own methods. Jim Barlett suggested that we make a robust tree, write a standardized email, and email every match. Then, use Gedmatch and upload your Gedcom. Analyze place and time matches. Karen Corbeil told of her success with autosomal DNA to find her family. Rob Warthen, the husband of an adoptee and a computer guy, suggested downloading chromosome browser data to CSV files, as CeCe had talked about, and using the “in common with” feature to triangulate. Rob developed DNA Gedcom, which I can’t wait to try out! He also suggested searching for adoption DNA tools at Yahoo groups for instructions. Dr. Tim Janzen wrapped up the session with his very technical and advanced spreadsheet skills. I cannot wait to get some time put some of this great information to work.
Irish Origenes
Dr. Tyrone Bowes of Irish Origenes came all the way from Ireland to tell us about his work, which uses reoccurring surname matches from Family Tree Y-DNA results to pinpoint geographical locations. Dr. Bowes shared the steps he uses in the process.
- Step 1 – Identify where the reoccurring surnames first appear.
- Step 2 – Review surname distribution. The reoccurring surnames should localize to a single area on the map.
- Step 3 – Stick pins on the identified (reoccurring) surnames in the areas where they occur on the Irish Origenes surnames of Ireland map. Step 4 – View the DNA results in a historical context! He reminded us that it’s often valuable to track movements based on where they built castles.
- Step 5 – Examine placenames
Dr. Bowes shared the website for gbnames Public Profiler, a great site that investigates the distribution of surnames in Great Britain.
Question & Answer Session
So many questions and so little time! I will share in bullet point style to get through as many of these as possible.
Q: Are Y-DNA and mtDNA results affected by chemo, drugs, radiation, etc?
A: There is no evidence of that, but someone should wait several weeks after a blood transfusion because a sample could be contaminated while scraping if blood is drawn.
Q: Does FTDNA have Y or M Y-DNA?
A: These are exotic and generally seen in the academic studies and areas of the world where it’s hard to get samples out.
Q: Can the preserved biopsy of deceased parents be used for FF testing?
A: Maybe. There has been poor success if it’s preserved in a parafin block. Blood samples with legal chain of custody in a purple top tube with preservative probably would have good success.
Q: Can we post non-FTDNA Y-DNA results in spreadsheets?
A: Yes, do a transfer for a nominal fee of $19 without upgrades.
Q: Is it appropriate and ethical to market mtDNA for genealogy rather than anthropology?
A: It is valid for genealogical purposes. It can be used to find a shared female ancestor. Max told the story of a Holocaust survivor with no family who found distant cousins and her sense of loneliness went away with one test.
Q: Can you test Y-DNA on a World War II bayonet that has not been cleaned?
A: Thomas said if there is a blood, that could be a good source. Dry blood is good. Theoretically they probably can’t but he would have to see the sample and then decide. Often it is not useful because of sun exposure, wet, etc.
Q: Can the Family Finder sample of a deceased father be used for Geno 2.0?
A: Family Tree DNA does not have the rights to sell the 2.0 chip directly at this time but after the first of the year, they will probably revisit that and it will majivally appear on an order upgrade page when it becomes available. However, Bennett was very clear that THIS IS NOT A PROMISE! It is not his decision.
Q: Will next gen sequencing pick up mtDNA insertions and deletions?
A: Yes.
Q: How will Family Finder report if a cousin is 1, 2, or 3 times removed?
A: Twice removed = 2 generation.
Q: Will presentations from the conference be available?
A: If authorized by the authors.
Q: How can females use Y-DNA results?
A: Look for a male and use your charm! (Funny, Max!)
Q: What can we expect to learn from Geno 2.0 that is not already known?
A: mtDNA on the chip will be the closest thing to full mitochondrial sequence. It wouldn’t show private mutations. It’s better than any other means except FMS. On the Y side, finding 100s of new SNPs. For Niall of the Nine Hostages, no less than four new subsets.
Q: Did you exclude AT or CG mutations from Y or mt?
A: Elliott- We coded what it was supposed to be. Build 37 should be out in a month or two. We will add 3,000-4,000 new SNPs to the coparison tool Nost all positions were known. Those will be added and appear in files.
Q: If a wife’s uncle is deceased and there is a 10 year old sample, is a Family Finder test possible?
A: Yes, if the second vial is in storage. There are 500,000 vials stored from past consumers.
Q: What happened to archives.org? Are you next?
A: NO!
Q: What is your success in accepting transfers?
A:FTDNA has accepted many from DNA Heritage, thousands from Ancestry.com and 2/3 have upgraded to 25 or 37 markers, thousands from 23 and me. When Ancestry.com figures out how to make data available, FTDNA expects thousands of transfers.
Q: If more data comes in, can we have a redo?
A: If more markers are added, they will automatically show up. However, if it’s a new chip, it will be a new product.
Q: If someone did Y-DNA, later mtDNA, then Family Finder, are all vials used up?
A: For a while, 3 vials were shipped. If there were 2 at the time you tested, there is probably no unused vial. If 3, then there is probably 1 left. This does not mean that there is no DNA. The freezer stores 500,000 samples of DNA. They simply take your sample out, take enough for the test, and put it back in the freezer. You may send an email to inquire if your vial is in stock. The extraction protocol was changed and a lot more DNA comes from a sample than in the past.
Q: When will you report ISOGG markers?
A: Each STR has a different mutation rate for each micro allele. It depends on the marker. The update will display those. The update will include palindromic markers.
That about wraps up Day 1! I will be reporting Day 2 soon and hopefully a post about an excellent adventure to the FTDNA lab will not be long forthcoming. Please check back!