20 November 2010

Family Tree DNA's 6th International Conference

6th International Conference on Genetic Genealogy
Houston, Texas
October 30-31, 2010

Once again Family Tree DNA held a very informative conference for its administrators. Although the size is always limited to about 200 participants or less, it becomes more and more International each year. This year representatives outside of the United States, included Canada, Belgium, The Netherlands, and Russia. It was wonderful to meet these International administrators and thank them for their dedication in promoting DNA testing for genealogy. AND, of course, it was grand seeing all those who have attended in past years. It is much like a family reunion.

Surprisingly, this year there were more new attendees than anyone had seen in recent years. This is absolutely wonderful, as it indicates our field is growing. On behalf of all Genetic Genealogists, I thank all of you for coming. The focus on genetic testing for genealogy grows by the grass root efforts of many individuals as well as the hard work of the members of the International Society of Genetic Genealogy (ISOGG) in promoting this level of genealogy proof.

Friday night began with the usual Family Tree DNA hospitality suite. This year Alice Fairchild provided her wonderful Double Helix necklaces to many. I supplied some entertainment in honor of Halloween by creating a DNA Trick or Treat game. Attendees were asked to draw a number which corresponded to a sheet of questions. After answering the question, or attempting to do so (This is a teaching moment.), the person received a small chocolate bar of choice and a DNA Trick or Treat sticker. It was amazing to see how many could answer and who was struggling. These questions did pave the way for some of the topics being covered at the conference, so hopefully, the introduction to some of the terms lead the newbies to focus on the presentations even more. I hope everyone found it more fun than intimidating…everyone won. Emily and Elise

Registration began at 8:00 a.m. Saturday. We received a nice FTDNA bag, T-shirt and bag. After grabbing coffee, tea, and water, we found a spot at the tables where we would spend the next two days. Pads of papers allowed us to write our questions and suggestions which were collected after each presentation. If time ran out, those questions were answered in a Q and A period at the end of the day.

Max Blankfeld, Vice-President, welcomed us with some statistics on attendance ♠and asked for a show of hands for those who are new and those who have attended all six conferences. Each was well represented. Max introduced Bennett Greenspan, President and CEO, who added more facts and thanked us all as without us the company would not be where it is today.

As Charmaine Royal, PhD from the American Society of Human Genetics (ASHG) would be speaking on Sunday regarding the ASHG white paper Inferring Genetic Ancestry: Opportunities, Challenges, and Implications, Matt Kaplan, Project Lead of the Human Origins Genotyping Laboratory, and Taylor Edwards, an Assistant Staff Scientists, both at the University of Arizona reviewed the paper and the implications for Genetic Genealogy. We learned there is currently over forty companies doing testing, and that there are about 200,000 Y-DNA samples at the University of Arizona with 42,000 of them being at a 67 marker level. Interestingly, there are rare cases of where men have two X chromosomes and no Y, yet they are still men, and in this case a Y-chromosome cannot be tested, of course. Conversely, a woman could have a Y-chromosome. For more information on this situation see: Does having a Y chromosome make someone a man? (http://www.isna.org/faq/y_chromosome)

Matt and Taylor explained that customers and scientists have different goals regarding genetic ancestry. For the consumer, ethical issues of unresolved paternity, consent for testing, uncovering genetic disorders, and unexpected ancestry can affect a person, and we as advocates need to clarify this to a customer, but that customers have an obligation to understand the possible outcomes of their testing. They reminded us that the tools for genealogy testing came from population genetics and that many Direct To Consumer (DTC) customers are interested in extending and confirming their family genealogy, and for those who are looking for health information really need to be tested for health markers. Family Tree DNA focuses on genealogy.

Matt and Taylor also reiterated that …
1. if anyone is concerned with identity (i.e., illegitimate births), you may not wish to test. Unexpected ancestry can affect some people.
2. nuances of ancestry will dispel the notion of race and the practice of equating race with ancestry.
3. inferring information from a population that has not been well sampled is not safe (i.e., determination of a tribe for a Native American ancestor).
4. testing with a company for genealogical purposes may give you some unique results, such as men with no Y-chromosome; women with a Y-chromosome, Nulls (absence of marker result), etc., but for interpretation of these one might wish to consult a genetic counselor.

Dr. Michael Hammer, Biotechnology Research Scientist at the University of Arizona, spoke of building genome-wide SNP (Single Nucleotide Polymorphism) databases and methods to predict individual ancestry from these databases.

SNPs are used to determine haplogroups as they mutate once whereas STRs (Short Tandem Repeats) can multiply at random. The stability of testing SNPs allows the determination of haplogroups for various populations. When testing the Y-chromosome, the result is reported for STRs. A separate SNP test will determine your deep ancestry and link you to the Phylogenetic Tree (World Family Tree) which can then show you the migration pattern out of Africa.

Dr. Hammer stated that it is possible to predict ethnic and geographical groups and that the information collected from the extreme populations around the world is easier to predict, but that prediction gets more blurry as you test the non-extreme populations. Ethnic origins in some areas are not highly predictable, especially in some areas of the Middle East. Isolation, genetic drift, or low number of tested samples could be the issue in some areas.

This is a reason why testing does not give you as much accuracy below the Continental level. That is, there is high accuracy for assigning haplogroups for the Y-chromosome testing for these continental groups: Sub-Sahara, Oceania, Europe, East Asia and the Americas. Databases are being developed to deal with the interior of continental groups to create a regional population database.

A few interesting statistics from his presentation:
1. There are 3 billion base pairs in the entire genome and 99.9 % of them are identical.
2. There are 3 million SNPs per person.
3. Taking the HVR1 test for the mitochondrial DNA has a low accuracy rate for determining haplogroups. The Full Genome Sequence (FGS) test is highly accurate depending upon sample size. In this case you can get a longer string of letters and numbers for your haplogroup as in U5a1a). If you belong to a haplogroup which has few testers at this time, the details of the haplogroup are not as accurate; therefore, you may only receive a short haplogroup designation (i.e., HV).

Doron Behar, MD, PhD spoke on Summarizing and Anticipation the Next Decade with NRY, mtDNA and Autosomal DNA. He reviewed some history of the DNA molecule which was discovered in 1944. The double helix was discovered in 1953, and the first human genome project was completed after 13 years of research in 2003. In 2009 a complete genome analysis cost about $70,000. Dr. Behar thinks that the price may be reduced to $1,700. In 2004 the National Human Genome Research Institute issued a request entitled "Revolutionary Genome Sequencing Technologies: The $1,000 Genome for any interested company to sequence the entire genome for $1,000.

He clearly stated that although we have a common ancestor with the PAN chimps (http://en.wikipedia.org/wiki/Chimpanzee), we did not derive from them and gave us the following reminder that in 1987 the mitochondrial DNA from 147 testers form five geographic populations were analyzed. The conclusion was that all of these results came from one woman who is to have lived about 200,000 years ago, probably in Africa.

Just after lunch there were several breakout sessions where I desired to have several clones of me to attend. As my Talley DNA Project Co-administrator Cynthia Wells was conducting one on how Family Finder can assist Y-DNA Projects, I joined her to help explain what we have discovered in our project and to clarify information on heterozygosis and homozygosis, at least on the basic level. David Pitts, Administrator of the Pitt Y-DNA Project and member of my Talley DNA email list attended Whit Athey’s presentation on “Phasing of the Chromosomes of a Family Group.” Whit states using the raw data from Family Finder for at least three children can allow most of the autosomal raw data for both parents to be determined. Having one parent with the children is best. In some cases, data from a cousin can help, and he demonstrated how using this data can help determine on whether the match is on the maternal or paternal side. He mentioned that each SNP in Family Finder’s raw data is reported in alphabetical order.

Next Katherine Borges spoke on behalf of Susan Meates of the Guild of One Name Studies (GOONS). The presentation covered the origin of names which included toponymic (place), occupational, topographic, and physical appearance. Name changes occurred for a variety of reasons, including a change of clergy, the Great Vowel Shift, personal preferences and in some countries, like Ireland, families took in orphaned children who were given the families’ surname.

As usual a Question and Answer Panel was held the last hour of the day. What questions were not answered after each presentation were covered at this time. Of these,

1. Doug McDonald re-evaluated the 23andMe percentages for categorizing populations and improved on them. FTDNA bought the rights to his work for Population Finder.
2. The cost of the Family Finder test was due to the high cost of the Affy chip which is made only one company and who did not give Family Tree DNA a cost-break at this time.
3. For Family Finder, if you manage to keep the end blocks of a chromosome the odds are the segment will be larger.
4. Reconstructing the DNA of parents is possible IF there are enough children, but it can still be difficult.
5. FTDNA says that Family Finder is highly reliable up to the 3rd Great-Grandparents or five generations or about 125 years.

The conference ended around 5:00 p.m., but at 7:00 p.m. everyone started gathering in one of the executive meeting rooms for ISOGG’s hospitality suite. Everyone was invited and from the looks of the crowd most everyone came. There was more food and drink than all of us could consume and hours were spent talking about the day’s activities as well as catching up on what friends had been doing for the past year. I was able to meet three attendees who are matches with me on Family Finder. As I had brought my charts with me, we perused them for any clues of a connection without luck. Most of the speakers and FTDNA staff were on hand to chat as well. The room was overflowing onto the mezzanine and down the hall. This was definitely the largest ISOGG gathering to date at the yearly conferences.

Part 2 for Sunday's activities.
Thanks to David Pitts for his notes as well.

copyright November 2010

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