Once again the programs for the two days were outstanding.
Bennett Greenspan, CEO and President, and Max Blankfeld, Vice President opened the meeting with a kind welcome to us all and announcements that FTDNA would attend The Gathering 2009 in Edinburgh, Scotland in July and would return to the Who Do You Think You Are Conference next year in London.
Next was a long awaited speaker, Spencer Wells, the head of the National Genographic Project (a five year anthropological study to help determine the migration pattern of our oldest ancestors), spoke on Deep Ancestry: Inside the Genographic Project. Dr. Wells was unable to attend in 2005 when the FTDNA conference was held at the National Geographic Society in Washington DC as he was in Chad. The government gave the crew a last minute clearance to enter so that indigenous people could be tested for the study. Dr. Wells explained that a century ago Charles Darwin had realized all of us had come from Africa, and he was correct. The Genographic Project was launched in 2005 with three areas: Testing indigenous people around the world, allowing public participation and providing a Legacy Fund to assist the indigenous in education and health. The current results include a collection of 50,000 samples from the indigenous and the public. The Legacy Foundation has reached $3.5 million…that’s many grants for the groups tested. The first publications are beginning to appear on the results.
NOTE: See the project at https://genographic.nationalgeographic.com/genographic/index.html for more details and how the public can join this scientific study. IF you or anyone you know has tested through the National Genographic Project, you need to move your test results to Family Tree DNA before the study ends so the results will be preserved in the case you some day wish to use the information for genealogy. At the end of the five years, in 2010, the public samples will be destroyed. There is no cost in moving your result to FTDNA. Family Tree DNA handles all the Genographic testing through the University of Arizona Lab.
Side note: Dr. Wells attended the FTDNA reception and as I had expected to meet him, I took the two books I own that he wrote in order to get his autograph…and below is the photo that was taken then. (Thank you Max! LOL)
Emily with Dr. Wells
Family Tree’s Chief Technology Officer, Mark Williams, presented a view of the new Administrator pages entitled Group Administrator Dashboard (GAD). This total rewrite of the Web pages will allow Admins to view all their projects through one dashboard and to custom design their site. Admins can elect which windows to view and how to place them. Several new options will allow various charts to track the number of testers within a time period, haplogroup charts within a grouped list of testers and more. An administrator can order their members page according to several columns such as kit number, name, haplogroup, etc. Several of us helped Beta test this over the last few weeks, but those administrators who attended the conference are allow to further Beta test these pages. For a while both the old system and the new one will run independently of each other. This new approach provides more flexibility in tracking our projects and contacting our testers. Having all our projects on one page with one password along with all the new tools will be most helpful.
Dr. Ricki Lewis, a geneticist presented on Privacy & Ethics of DNA Testing. During lunch at my table she commented that she knows little about Genetic Genealogy, but remained for the sessions to learn more for her next novel. From my notes, her comments were that testing the entire genome is not helpful as there is too much junk DNA, but she feels that sequencing subsets of the genome can be helpful. She views those seeking DNA for health issues and for genealogical purposes start with a different intent. Dr. Lewis states that for health testing you get bad news, and it is done in secrecy. For ancestry testing the purpose is good news and for sharing.
My Note: In general, the purpose of testing for health and for ancestry can be the desire of the general public as Dr. Lewis stated, but genetic genealogists have a great depth of knowledge and desire for more information than the average person. Any genealogist knows it is important to gather and record family health issues, and this is especially important for those who were adopted. For these reasons, genealogists seek information on health issues, at least for themselves. Those who do understand that environment is the biggest factor and not inherited diseases. They understand that in most all cases, the DNA shows the propensity of getting a disease if one doesn’t take care of themselves properly. For example, one person who took a personal genome test found he had a very high probability for prostate cancer. He went to the doctor and they found he did have it. He is alive today as a result of testing for health. Granted, science has not determined which combination of genes causes most of our health issues, but in some cases they know. Genetic genealogists know and understand this.
Genetic genealogists vary from knowing the basics of how DNA testing helps genealogy to being actual geneticists, mathematicians, doctors, anthropologists, scientists, and lawyers. That is to say, they come from every walk of life, with every background, and with a wide variety of knowledge regarding every aspect of genealogy and the use of DNA for family research. Over the last nine years genetic genealogy has existed, the knowledge base of the followers has grown tremendously. With these annual meetings and other seminars, with the availability of online resources, technical papers, and published books, with the establishment of various email groups, anyone wishing to understand genetics with regard to genealogy can do so.
Dr. Lewis rightfully mentioned the ridiculous aspects of some DNA companies claiming that children have a gene that determines their sports ability, etc. Genetic genealogists know how ludicrous this is. Unfortunate the general public takes the extremes: DNA testing is totally bogus or DNA testing for such genes is a god-sent. Both are wrong.
After a wonderful lunch, Bob McLaren, dressed in his kilt and manager of the Clan MacLaren project gave an interesting presentation entitled: Lessons Learned from Running a Large Surname Project. Mr. McLaren discussed ways to display DNA results, how to recruit members, and how to keep them informed. Bob’s project is one of the larger surname projects with 327 members as of July 2008.
Dr. Doron Behar, postdoctoral fellow in the Hebrew University of Jerusalem and FTDNA’s chief lab technician for mitochondrial DNA, and William R. Hurst, administrator of the mtDNA Haplogroup K Project and co-admin of the Hurst Surname Project discussed Advances in mtDNA Testing for Genealogy and Anthropology. They informed the audience that 5100 full mitochondrial DNA records were in GenBank with over 250 of those from Family Tree DNA and that FTDNA has over 4100 completed mtDNA. They clarified that Dna Ancestry misses 75% of the SNPs (Single Nucleotide Polymorphisms) that FTDNA tests. (SNPs determine the haplogroup which is a person’s twig on the Phylogenetic Tree which is the world’s family tree.)
NOTE: GenBank is a collection of publicly accessed DNA sequences for many species. An easy explanation of it can be found at: http://en.wikipedia.org/wiki/GenBank
The day ended in a Question and Answer panel. We learned that Ysearch will be updated later this year to include more markers; that the Genographic project requires the haplogroup to be known for the Hyper Variable Region 1 (HVR1) so the required SNPs are tested; that Dna Anecestry originally planned to make the DNA they test a part of a paid subscription in the future. (Personally, that’s scary…you pay; they profit via their subscriptions.); and many more topics.
Dr. Michael Hammer, Biotechnology Research Scientist at eh University of Arizona and Director of the Genomic Analysis and Technology Core facility, discussed the Advances in TMRCA in a break-out session. TMRCA (Time to the Most Recent Common Ancestor) is a mathematical probability that helps determine the number of generations back to the common paternal grandfather with people who match on DNA testing. Several models are applied and this process can be very useful guideline when the paper trail dead-ends. Of course there is a constant desire to improve this connection and with more testing it will be. FTDNA is currently looking for more males who have tested 67 markers and who are willing to have their male child, parent or grandchild tested. Three male generations, closely related (not cousins) will help determine a better proximity to the time to the most common ancestor. FTDNA is hoping to get volunteers of male halpogroups other than those who are R1b and I. The audience also learned that R1b and I mutation rates are similar and that J should have faster rates.
The other break-out session was Haplogroups: Uses for Your Project by Eileen Krause, Post-Lab Quaility Assurance Manager at FTDNA. Ms. Krause discussed the future of DNA testing and explained how DNA testing has already begun to bridge the gap between the genealogical paper trail, DNA testing and the SNPs that determine haplogroups.
The Ewing Surname Y-DNA Project by Dr. David Ewing, administrator of the Ewing Surname Y-DNA Project and member of Clan Ewing, gave some wonderful examples of how DNA testing solved some genealogical problems, while creating others with further work could resolve. He showed the audience some techniques for analyzing results and how to explain them to project members. Back mutations and Parallel mutations were explained.
Next, Matt Kaplan, associate staff scientist at the University of Arizona in the Division of Biotechnology and doctoral candidate, and Taylor Edwards, Senior Research Specialist at the Genomic Analysis and Technology Core at the University of Arizona and contributes to all aspects of the laboratory work for FTDNA and the Genographic Project, presented on What’s in a Name…the Current State of Y STR Nomenclature 2009. In 2007 John Butler of NIST (National Institute of Standards and Technology) spoke to the FTDNA conference attendees regarding the standardization of DNA companies. Since that time, Messers. Kaplan and Edwards have worked closely with Dr. Butler to help FTDNA incorporate the changes.
The current rules established by NIST were presented, but the required changes from NIST (below) shows discrepancies in the application of those rules. However, FTDNA will follow the rules.
Currently, three markers that FTDNA test were given as an example of having NIST guidelines.
1. DYS 441 – Add 1 to the current FTDNA nomenclature.
2. DYS 442 – Add 5
3. DYS GATA-H4 – Add 1
These three markers will change on the websites sometime this year. Unfortunately, the certificates previously printed will be wrong after the change.
FTDNA’s goal is to follow the NIST rules, but where NIST has not created a standard, FTDNA must follow the primary literature. These changes will take much time as NIST was created to focus primarily on Forensics and other non-genealogical companies and as more and more markers are being discovered at a rapid pace.
FTDNA vows full disclosure to NIST on their testing process. Their newly found markers are being sent to NIST, and FTDNA will be altering their reports and websites to reflect micro-alleles (partial repeats which will be displayed as decimals. Example: 14.1 instead of 14).
Bennett Greenspan, President of FTDNA, stressed that for all this to work, it is important that ALL other testing labs follow the NIST guidelines. He also suggested that all of us should push for standardization.
After another wonderful lunch, Thomas Krahn, Technical Laboratory Manager of Family Tree DNA’s Genomics Research Center in Houston, presented on A Walk Through the Y Update and NULL Alleles as a break-out session. Mr. Krahn explained that a NULL is the absence of DNA results in a particular marker. The audience learned that there are many possible locations for NULLs, namely, DYS 439, 437, 391, 565, 448, 389, 425, and 448. Some of these appear in particular haplogroups more so than in others.
We also learned the outcome of what tests have gone through the Walk Through the Y program. This testing was geared to finding more SNPs by testing parts of the Y chromosome, with the hopes of finding SNPs particular to family and even in establishing a private SNP. As of now, the project is open to the public through an application available by contacting FTDNA.
Challenges to the Genetic Genealogist by David Ewing and Bob McLaren was another breakout session answered questions regarding how your projects’ genetic information can be integrated with traditional genealogical data. Their presentation included who to test, how to recruit, what marker level to use, and how to make sense of your project results.
The last session of the conference was Updates to the Y-chromosome Tree by Dr. Michael Hammer. We learned that there are 600 SNPs which have been mapped, 20 major haplogroups (A-T), and that the R haplogroup acquired most of the new mutations although seven other groups received new mutations and subclades.
At every conference, Family Tree DNA gives the attendees some gift. At times it is a newly published book, but this year we received an updated Y Phylogenetic Tree. The best part of this tree, besides including the new subclades and SNPs, is that it uses the “short-hand” for subclades, but gives the longer version in the last column. For example, as the current subclades are getting much longer (R1b1b2) many genetic genealogists use the last SNP to indicate the twig (R-M269). However, it is easier to see the route of the twig back to the R branch by seeing the longer version. This Phylogenetic Tree is viewed at Family Tree’s website by clicking on SNPs R Us.
The conference closed with a period of questions and answers.
Various photos from the conference:
Dr. Hammer's TMRCA Presentation