Showing posts with label AncestryDNA. Show all posts
Showing posts with label AncestryDNA. Show all posts

Thursday, May 5, 2016

Don't Miss "Your Genetic Genealogist" on 20/20 Friday night!

Tomorrow, Friday May 6th on ABC, 20/20 will cover a story that I have been working on for the last few months. 



Unbelievably, three babies were found abandoned within a five mile radius of each other over a five year period of time and DNA testing at AncestryDNA revealed that they all share the same mother. (More details are here.) See them reunite below.




Then, through testing the foundlings at 23andMe, we made another major discovery. Don't miss the entire story on 20/20 Friday night on ABC (check your local listings).



Friday, February 27, 2015

Switched at Birth: Unraveling a Century-Old Mystery with DNA

The following is a guest post by Alice Plebuch demonstrating the potential of DNA testing. When Alice first contacted me about two and a half years ago with the beginning of this incredible tale, I knew that the answer was just waiting to be discovered one day through genetic genealogy. Many of you may have heard part of her family's story already, but I thought it only made sense for Alice to share it from the beginning through to its completion since it was her DNA test that started the unraveling of this mystery and her persistence that, finally, led to the resolution. (The final piece of evidence just arrived this week and, with it, the confirmation needed by Alice's family to finally share their story.)

Three years ago I blithely took a DNA test at AncestryDNA. At the time, the fact that it was in beta, somewhat alleviated my concern when I first saw my results. I was three quarters Irish with the remainder being a English/Scottish mix, but the test claimed I was half Jewish. It was as if half my ancestry was wrong. The results had to be wrong! I was expecting to see Mc and Mac relatives, but the names were overwhelming Eastern European, Russian, and Jewish. I can assure you, they weren't any of my relatives, or were they?

Alice's Unexpected Ethnicity Estimate

I have six siblings strewn all over the United States. By chance, two brothers visited within days of my receiving the perplexing DNA report. Their reactions ranged from finding the Jewish component mildly interesting, but wrong, to outright ridicule. How could I ever imagine we were anything but Irish, they asked? Nothing makes me take an opposite position faster than being mocked. I defended the test, even as I harbored huge doubts. Looking at the family trees of my matches became a daily endeavor and I wondered, could I really be related to these people?

I called my only sister, Gerry, and shared the disturbing results. Her immediate and intense reaction was that the DNA test was correct. Gerry thought it just felt right. I had conducted some research on genetic testing companies so when Gerry decided to test, I recommended 23andMe where I knew we'd have direct access to our genomes. I also retested at 23andMe.


Waiting on the second round of testing gave me time to imagine incredible scenarios, most notably, "I was adopted" and "Mom had an affair"! Gerry laughingly dismissed those notions by reminding me of how much we all resemble Dad. Everyone in the family has Dad's distinctive eyes and I certainly have his flat feet and massive bones. Nevertheless, it was a real relief when the first thing I saw in my DNA family list was a nephew with the proper relationship. Shortly thereafter, Gerry's results were posted. We were full sisters and both half Ashkenazi! Another brother casually mentioned he also tested at 23andMe. His profile was neither public nor had he even looked at his ancestry composition. We quickly shared genomes and it was three for three.


To be on the safe side, I sent a copy of my genome to Doug McDonald, a retired professor at the University of Illinois, noted for calculating accurate ancestry admixtures. His analysis was quite pointed. "It can't be any clearer. One of your parents is Jewish."



23andMe's Ancestry Composition Feature Shows Fully Jewish Chromosomes for One Parent

Now that the Ashkenazi component was verified, the question of which parent remained. Our prime suspect was Dad. Mom had an extremely well documented family tree, but more importantly, we personally knew many of her huge extended family and they were definitely not Jewish. We had pictures of Mom's family extending back over a hundred years. Dad's parents died while he was young, and kin did not raise him.

So together, my sister and I worked out a plan where we would test first cousins from both sides of the family. Our cousins are considerably older than us and we were concerned they wouldn't be open to DNA testing. We were pleasantly surprised when they eagerly agreed to spit for us. Their one request was that their identities be kept private.

We also asked our brother, Jim, to take a Y-DNA test through National Geographic. His test came back, indicating his genotype is the predominate type in southern Ireland where our grandfather was born. Almost as a footnote, it was mentioned that a small number of Ashkenazi Jews shared the genotype.


23andMe has a facility called Countries of Ancestry that displays areas on a person's chromosomes that are associated with Ashkenazi Jews. Those areas are displayed in blue, the rest in white. Once again, I found myself staring at a computer screen trying to make sense of what I was seeing. I kept flipping back and forth between the chromosomes of Bill, Gerry and myself, when suddenly I had a "Eureka!" moment. Males inherit their X-chromosome exclusively from their mothers while females get one allele from their mother and the other from their father. Blue permeated each and every single chromosome for Gerry and me, but there wasn't a single dot of blue on our Bill's X-chromosome. Dad was Jewish!



Alice's X-chromosomes show Jewish DNA

Bill's X-chromosome shows no Jewish DNA

Armed with the knowledge that the Ashkenazi genes came from Dad, Gerry and I made a friendly bet. I wagered that our paternal cousin would also be Jewish. My sister was just as sure he wouldn't be related to us. She had come to the seemingly ludicrous conclusion that "Dad was switched at birth!"

More waiting provided time to research Dad's parents; after all, they could have been Irish Jews or Jews that assumed Irish persona so they could more easily enter the United States. Now that everything is on the Internet, it was relatively easy to verify that our grandparents came from Irish Catholic families, marrying into other Irish Catholic families, for quite some time. There was no hint that they were anything other than Irish.


It was almost as Loki, the trickster, was having fun with us. One cousin's kit had the correct address on it, but it was delivered it to the wrong address and the person just kept it, unopened. The other cousin's saliva didn't yield sufficient DNA and had to be reprocessed. At last the results arrived. 


Mom's nephew was almost classic 1st cousin match. I went cold when I ran the comparison for Dad's nephew. None of us had any genetic relationship with him, whatsoever. He was as Irish as we were Jewish! I lost the bet with Gerry, but more importantly, was left with the unenviable task of telling our beloved cousin that we weren't genetically related.


The family was stunned. Our brothers were no longer laughing. My sister and I swung into high gear to find our biological grandparents.


The big question was how could Dad become separated from his family. In 1913, most women had home births, but Dad's birth certificate clearly states he was born in a hospital. Even today, with high-tech monitoring, occasionally babies are misidentified. Imagine a hospital that has just started delivering babies and didn't foresee mix-ups, much less DNA. We knew when and where the other baby was born so we turned to The New York City Birth Index, in which we identified thirty male infants born in the Bronx within a day of Dad.

Our untested brothers dutifully spit into test tubes so we'd have a better chance of finding a match. Then, all our genomes were transferred to Family Tree DNA and GedMatch to widen our dragnet. Although Jim already took a Y-DNA test, it only reported on 12 markers; far too few for genealogical purposes. Bill volunteered to take the more expensive, but much more accurate, "111-marker Y-DNA" test at FTDNA. Although Bill had the same genotype as Jim, his matches were with Ashkenazi men of Eastern European ancestry, with the notable exception of an Irish man with our surname! We choose to discount the Irish match as being a NPE after talking with the family. Bill had a single "extremely significant" match that predicts a common ancestor within 4 generations. We were hopeful and dared wonder, "Had we found our father's true surname?" Unfortunately, autosomal DNA tests indicated a more distant relationship.


It was suggested that what we should look for a Jewish baby with a surname similar to ours. In fact, there was a male infant with a very close, but distinctively Jewish, surname. Thanks to a birth announcement in the NY Times we were able to trace the family into the present. DNA testing showed he couldn't be the Irish child. Our hopes for a quick and easy resolution were crushed.


Thus began the tedious work of the next two and a half years. On behalf of the family, Gerry and I sent out over a thousand invitations to share genomes at 23andMe. We also contacted many of our approximately 3,000 DNA cousins (each, for a collective total of 7,000 unique cousins) at FTDNA. The overwhelming majority of DNA cousins never responded, a few hurt our feelings by refusing to even speak to us, but enough accepted to build an excellent search base. A few of our Jewish DNA cousins have become fast friends and marvelous co-researchers.


As more and more match data accumulated, it became obvious to Jim, that the spreadsheets we used were unwieldy. Jim used his skills as a developer to create an iPad application, DNAMatch, which easily and efficiently managed the 300,000 plus overlap segments our large family has generated. Real analysis was finally possible.



Jim's DNAMatch Automated Spreadsheet Feature

We had massive amounts of information on the location and surnames of our DNA cousins and were able to make some predictions. Minsk, Vilna and Ukraine were clearly geographic "hot spots", yet some of our closest matches traced their families to Romania. Many were related to us on both sides of their families. While the majority of our contacts knew their ancestors came from Russia, they weren't sure of the town or even the name of the current country. Ancestral surnames changed at a dizzying pace or they simply didn't exist. I hate to admit I was getting depressed over the probability of finding our grandparents, but...

Dad's Irish nephew has always been supportive of our quest and I provide him with updates. His 23andMe DNA Relatives list doesn't change frequently, so I'd fallen into the habit of checking his matches monthly instead of daily. In the middle of my most current update, rather than report a lack of progress, I stopped and signed on to his profile. OMG! OMG! There, right below his name, was an anonymous woman listed as a second cousin. In my heart-of-hearts, I knew she was the key. With my heart pounding and my hands shaking, I wrote her a personalized invitation, explaining that I managed my cousin’s account. Would she would compare genomes with him to help me solve a 100-year-old mystery concerning my father.


When she accepted, I wrote, “Thank you for responding so quickly. P N [his posted name] is helping me discover who my real grandparents were. Theoretically, we are first cousins, but I found out, through a DNA test that my Irish father is, in fact, fully Ashkenazi Jewish. We tested all our first cousins and he doesn't match my family at all, which is impossible if we were genetic first cousins. Every expert that has looked at the evidence is convinced, as are we, that Dad was accidentally switched at birth with the Irish child.”


Jessica, the young woman, in turn responded, “I was actually expecting to be much more Ashkenazi than I am. My father died when I was very young, but I was always told that both his parents were descended from Eastern European Jews. Through this test I've found that I am only about 2% Ashkenazi and that I am actually Irish, which I had not expected at all. So I'm not really sure what is going on.”


I explained when and where Dad was born and within 20 minutes Jessica wrote to say, “Just glancing quickly through internet records, it looks like my dad's father, Philip, was born on September 24, 1913, so you may well be on to something.” She later confirmed that her grandfather was actually born a day earlier, just like Dad. Her grandfather’s name was on my list of “suspects”, but his surname was misspelled!


It was late at night when we finally emailed our “good nights”. Sleep was impossible, making the wait until morning, and sharing of the joyous news, sheer agony.


We received email photographs of our grandparents the following afternoon. What an incredible feeling it was to look at old snapshots and see those familiar, smiling, faces. There was Dad’s hairline, his nose, his ears, and eyes on his father. Dad’s mother graced him with her marvelous facial bone structure. There is no denying — we’re related.



Alice's parents on their wedding day


Alice's newly discovered biological grandparents Sam and Ida


Alice's father

Our wonderful Jewish DNA cousins constructed our family tree within hours. With a real tree, my closest DNA match at Ancestry found we share the same 2X great grandparents and, today, the DNA test on Jessica’s Jewish grand aunt — my presumed 1st cousin — confirms we ARE indeed first cousins! Dad really was switched at birth!



Matching DNA between Alice and her new
first cousin plus four of Alice's siblings


And now our Irish family is Jewish. Our "Swap Cousins" are Irish and are trying to adjust to this shocking news. We’re all hungry to learn about each other's family and how to intertwine the two families, Irish and Jewish, into one tree.

Despite all our careful planning and matching of cousins, our final success is attributable to a one-in-a-million, unpredicted match. I’m not a particularly religious person, but the inexplicable events that lead us on this remarkable odyssey, and its unexpected and spectacular conclusion, are sure having an effect on my belief system!


Tuesday, August 12, 2014

Is Ancestry.com Getting Into the Health Business?

The following is a guest post by Angie Bush, my partner in The DNA Detectives:

Today, I received in my email inbox a questionnaire from Ancestry.com asking about my thoughts in using my family tree to study family health history. I recently wrote an article that touched on the use of genealogical data in conjunction with genetic studies for the APG Quarterly. In this article, I talked about how the Utah Population database was started as the result of a joint collaboration between the LDS Church and scientists at the University of Utah. This database is unique in that it links detailed family history information with genetic data to allow scientists to study the inheritance of many diseases. Many significant genetic discoveries have been made as a result of this database, including the famous (or infamous) BRCA1 and 2 genes. It is a significant resource for those interested in studying the inheritance of genetic disease. More about the Utah Population Database and the role of genealogical information can be found here: http://learn.genetics.utah.edu/content/science/utah/

Just as in genealogical research, DNA is of little value without a paper trail. Significant value and power lies in combining detailed family health histories with genetic data. In my opinion, 23andMe has missed a significant opportunity to link family histories with genetic data and make ground-breaking discoveries. From this survey, it appears that Ancestry.com/AncestryDNA recognizes the value of this information and that they may be considering getting into the business of supplying their customers with heath related information the way 23andMe did prior to November 2013. It would appear that they are constructing a database very similar to the Utah Population Database with SNP data generated from the Illumina Chip they currently use. 


I have a few questions about this:
  • Will AncestryDNA now be subject to the same FDA guidelines that are currently prohibiting health information from 23andMe, and if so, will Ancestry join the effort with 23andMe to allow this type of information to be provided to consumers? 
  • Or, will they ride 23andMe's coat-tails into the health side of the personal genomics market? Will Ancestry re-sell this data to large pharmaceutical companies?
  • How can we participate in this research, and should we as customers be participating?

There are many other questions I could ask, and in the end, I do believe that health care needs a serious overhaul and the revolution that Anne Wojcicki started with 23andMe cannot be stopped now. I believe one of the best ways to revolutionize health care is to understand what our individual genetic code is telling us about future disease risk, how to manage that risk and prevent disease if possible. It appears from the questions on the Ancestry survey, that they recognize the power of this information as well, and that they plan to move into the space currently occupied only by 23andMe.

 Screen shots of the email and survey follow:














Thanks to Angie for sharing this update and important information with my readers!

Saturday, August 2, 2014

Countdown to the I4GG International Genetic Genealogy Conference 2014

A quick reminder about the upcoming i4gg.org conference 

(a not-for-profit event).


This is truly a unique opportunity to personally meet with - and learn from - some of the world's leading Genetic Genealogy experts who, for the first time ever, will appear under ONE roof at the first International Genetic Genealogy Conference scheduled for Friday, August 15th through August 17th.

MEET THESE WORLD RENOWNED GENETIC GENEALOGY EXPERTS:

Dr. Spencer Wells - The Genographic Project (keynote)
Joanna Mountain - 23andMe
Julie Granka - AncestryDNA
Razib Khan for Family Tree DNA
Judy Russell
David Pike
CeCe Moore
Maurice Gleeson
Tim Janzen
Jim Bartlett
Terry Barton
Blaine Bettinger
Angie Bush
Rebekah Canada
Shannon Christmas
Karin Corbeil
Diane Herman Hoog
Katherine Hope Borges
Bill Hurst
Kathy Johnston
Thomas Krahn
Greg Magoon
Doug McDonald
Ugo Perego
Bonnie Schrack
Larry Vick
Rob Warthen
Debbie Parker Wayne
William Howard

 

The fabulous Judy Russell, Julie Granka, Greg Magoon, William Howard and Razib Khan were all added to the schedule since I last wrote about the conference.

 

 Take a minute to check out this video for a quick overview:



 
There is something for everyone - all levels of experience are encouraged to attend. Expert or novice - you'll take away a world of knowledge from the i4gg.org International Genetic Genealogy Conference August 15-17 at the National Youth Conference Center in Washington DC!

Don't miss this opportunity to learn from the best! Go to i4gg.org and register today - there are still tickets available. 

Sponsored by the Institute for Genetic Genealogy. THIS IS A NOT-FOR-PROFIT EVENT for the advancement of genetic genealogy.

Hope to see you there!

Thursday, June 5, 2014

Ancestry.com Officially Retires Y-DNA and mtDNA Testing

Ancestry.com announced today that they are officially retiring five of their sites and/or products as of September 5, 2014. These include Mundia, Genealogy.com, MyCanvas, MyFamily and, of special interest to my readers, the Y-DNA and mtDNA tests (now being called LegacyDNA). The sales of these tests have been halted, effective immediately.
I don't think the news about the retirement of the Y-DNA and mtDNA tests will come as a big surprise to most of us since Ancestry.com has been focusing their resources on the AncestryDNA autosomal DNA test and have been backing away from promoting the direct line tests for some time. As has been noted by many in the genetic genealogy community, it has become increasingly difficult to find the ordering interface for these tests over the last year or more.

I participated in a conference call detailing these changes with bloggers yesterday where we were given an opportunity to ask questions. I asked several about the Y-DNA and mtDNA tests, as follows:

Q: Will the entire Y-DNA and mtDNA site interface be retired? Will you be able to view and contact your matches? 
A: The entire interface will be retired, including the match lists and the ability to contact your matches.

My comments: If you have tested there, I strongly encourage you to contact your matches before September 5th (and so does Ancestry.com) because you will not have another opportunity to do so.  You can download your raw data (CSV file) until September 5th by going to www.DNA.Ancestry.com and upload to other services like Family Tree DNA. FTDNA has a transfer program for Y-DNA tests here. For $19 you will be able to upload your results to the FTDNA site. Here is the description of their transfer product:


This option is available for customers who have 33 or 46-marker Y-DNA results from a third party company that used the Sorenson's laboratory (this includes tests performed by Ancestry, GeneTree, and Sorenson's SMGF). You may use this option to upload your results to the Family Tree DNA database. The $19 fee will provide you with a Family Tree DNA personal page which will allow you to:
  • Join Family Tree DNA projects freely, but you will not receive matches or a haplogroup prediction.
  • Your uploaded results will be available to the administrator and included on the project's public page for comparison with other project members.

For an additional $39 you can get a new kit from FTDNA. If you tested 33 markers at Ancestry.com, then you will have the additional markers filled in to be equivalent to FTDNA's 25 marker test or if you tested at the 46 marker level at Ancestry.com, then you will receive 37 marker results from FTDNA with this additional test. At the very least, I encourage you to add your results to the free Ysearch site (note the conversion needed) and Mitosearch site.

Q: Are there any Y-DNA or mtDNA test still in the queue and, if so, will these be completed or refunded?
A: There are a small number of Y-DNA and mtDNA tests still in the queue. If you are one of these, then you will be receiving an email detailing your options. Ancestry.com encourages you to call their customer service to discuss this. 

Q: What will happen to the stored DNA samples associated with these tests?
A: The stored DNA associated with these tests will be destroyed. 

Q: Can the stored DNA be returned to the testers or their families rather than being destroyed?
A: No.

Q:  Can those stored samples be used to upgrade to an autosomal DNA test before they are destroyed?
A: Ancestry.com does not currently have anything in the works for doing this.

An additional question was posed by another blogger regarding whether the halpogroup designations that are populated on testers' Ancestry.com user trees will remain. They are going to get back to us about this. 

For more information about the other four site retirements, please see Randy Seaver's GeneaMusings, Thomas MacEntee's GeneaBloggers and/or the Ancestry.com official blog.

Sunday, May 25, 2014

Upcoming Events and Why I Have Been Too Busy to Blog

I'm sorry that I haven't had time to blog much lately, but I wanted to share a few of my activities with readers of YGG, so you will know that I have not deserted you. I am presently working as a genetic genealogy consultant and educator more than full time. Here are some of the things that are going on with me that you might be interested in:

23andMe Google+ Hangout Video
On Thursday, I participated in a Google+ Hangout with 23andMe. It begins with my presentation, a very basic 30 minute walk-through of the 23andMe Ancestry features, followed by a 30 minute question/answer discussion with Ancestry Product Manager, Laurie Kahn, Christine Moschella from Customer Care and me. You can watch the video below, but I recommend viewing it directly on YouTube (by clicking the YouTube logo at the bottom right of the screen) and watching it full screen to see the details on my slides. This video was intended for beginners, but the later discussion may be of interest to others.  (I should probably thank CJ Swenson of 23andMe for bearing with my schedule limitations while trying to get this on the calendar for several months!)



 

World Science Festival in NYC - May 29
This upcoming week I will be participating in the World Science Festival in New York City as part of an exciting panel discussion entitled "It's All Relatives: The Science of Your Family Tree" with Genomic Scientist Catherine Ball of AncestryDNA, Geneticist/Anthropologist Mark D. Shriver, Geneticist/Anthropologist Brenna Henn and moderated by Broadcast Journalist Randall Pinkston. The event will be hosted by Louise Mirrer, CEO and President of the New-York Historical Society.

Researching the farthest branches of your family tree is now faster, cheaper, more accessible and more accurate than ever before. Today you can find distant living relatives, learn how you are related to important historical figures or discover how your ancestors participated in major movements in human history.  And, using advanced technologies to analyze face structure and skin pigmentation, evolutionary geneticists can determine what your ancestors actually looked like.  Join a conversation among leading researchers about how gains in computational power, together with technological innovations, are allowing scientists to come ever closer to understanding how we are all connected.

"It's All Relatives" will be held at the New-York Historical Society on Thursday, May 29th at 6:00 pm. Further information can be found and tickets purchased here.




Harper's Magazine June Issue
The lead story in this month's Harper's Magazine is "America's Ancestry Craze: Making Sense of America's Family Tree Obsession" by Maud Newton. It includes some details of my work excerpted from extensive discussions with the very talented author (and genealogist) last year. Maud will be following up with a book published by Random House to further investigate this subject that is near and dear to many of our hearts.  The magazine can be found at select newsstands and is available to subscribers online.




Finding Your Roots with Henry Louis Gates, Jr - Season Two
We are finally close to wrapping up the interviews for season two of the PBS series "Finding Your Roots with Henry Louis Gates, Jr."  The season will begin to air Tuesday, September 23 and will include interviews with Ben Affleck, Sally Field, Derek Jeter, Deepak Chopra, Tina Fey, Valerie Jarrett, Carole King, Tony Kushner, Ken Burns, Angela Bassett, Alan Dershowitz, Ming Tsai, Aaron Sanchez, Tom Colicchio, Rebecca Lobo, Nas Jones, Billie Jean King, Stephen King, Courtney Vance and several others. This has been a huge undertaking for me since I am the only genetic genealogist working on the show and I analyze the results of all of the guests across three companies (AncestryDNA, 23andMe and Family Tree DNA). This upcoming month will be my year anniversary working with Professor Gates on the show and his personal genetic genealogy. It sure went by fast (even though I didn't get much sleep)!


Dr. Gates and I, last year's SCGS DNA Day


SCGS Jamboree and DNA Day
SCGS Jamboree is fast approaching where I will be giving three presentations and participating in one panel discussion. My first presentation on Thursday June 5th at 10:00 am will be live streamed, "Real Life Cases from the Desk of a DNA Genealogy Detective". There will be many genetic genealogists presenting both on Thursday and throughout the rest of the conference weekend. Here is my schedule:

DNA Thursday 
TH003 - Thursday 10:00 a.m. to 11:00 a.m. "Real World Stories from the Desk of a DNA Detective." DNA testing is revealing unexpected surprises in the trees of many genealogists, involving both immediate and more distant ancestors. These surprises often lead to fascinating stories that could never have been unearthed without DNA and this new-found knowledge has taught us that our family trees on paper may not always be the same as our true genetic genealogy. After learning of its potential to reveal and unravel complex family relationships, many are flocking to DNA testing to solve their own family mysteries. Actual cases from the presenter’s own files will be shared.

TH017 - Thursday 3:30 p.m. to 4:30 p.m. "Autosomal DNA: Discovering Your Ancestors in You." As genealogists, we have all invested a significant amount of time and effort searching for information about our ancestors. Rapidly advancing genetic technologies have now made it possible to discover more about our ancestors and in ways we never could have imagined. CeCe will demonstrate the methods that the experts use to get the most out of their results, including chromosome mapping and applications for adoption and African American genealogy. Examples from CeCe's research will be shared to demonstrate the potential for using autosomal DNA to discover more about our ancestors.

Jamboree Weekend
FR019  - Friday 4:00pm - 5:00pm. "Why Should I Take a DNA Test?" This is an introductory presentation for genealogists interested in venturing into DNA testing. It will cover the basics of the three types of DNA testing used for genealogy: Y-DNA, mtDNA and autosomal DNA as well as the pros and cons of the major companies offering services to the genealogy community. Come learn about the potential of DNA testing for opening doors and breaking down brick walls in your genealogy!

SA049  - Saturday 5:00pm - 6:00 pm.  ISOGG Panel: "Ask the Experts about DNA and Genealogy." This presentation is sponsored by the International Society of Genetic Genealogy (ISOGG). Where are we now? What is the current "state of the art" in relation to each of the major DNA tests? What test tells the percentage of inheritance from different areas of the world? What new tools and utilities will be developed by independent developers? What does the future hold for genetic genealogy? These questions and more will be answered by the experts. Alice Fairhurst, Moderator with panelists: Blaine Bettinger PhD JD, Katherine Borges, Dr. Maurice Gleeson and CeCe Moore. (90 minutes)


GRIPitt "Practical Genetic Genealogy" Course
I am also preparing for the upcoming Genealogical Research Institute of Pittsburgh course in July where I will be teaching with Blaine Bettinger, PhD, JD and Debbie Parker-Wayne, CG (course coordinator). The course sold out mere minutes after registration opened, so the GRIPitt administrators arranged for a second classroom. This will double our teaching load, but will allow many more people to benefit from this intensive, week-long education. Due to its popularity, we will be offering this course again in 2015 (twice).


Institute for Genetic Genealogy Conference
Tim Janzen and I are very happy with how planning is moving along for the I4GG conference. The conference will be held August 15-17 in Washington D.C. and is intended for a wide audience. We will have presentations geared for the beginner all the way through to the advanced genetic genealogist. I have heard quite a few people remark that they aren't advanced enough to attend, so I want to emphasize that everyone is welcome no matter what experience level they have with genetic genealogy. In addition to the more basic presentations like mine "The Four Types of DNA Used in Genetic Genealogy" (title subject to change), there will be workshops presented by both 23andMe and Family Tree DNA on Friday (AncestryDNA has also been invited to host a workshop). These workshops will undoubtedly be of great benefit to the less experienced attendees. I will be posting more updates about this conference in the next day or so.


SLIG Genetic Genealogy Courses
Angie Bush and I will be co-coordinating the "Advanced DNA Analysis Techniques" course for the Salt Lake Institute of Genealogy in January and I will also be teaching in the "Getting Started with Genetic Genealogy" course coordinated by Debbie Parker Wayne, CG. The advanced course has several prerequisites since it is intended for the intermediate to advanced genetic genealogist, but the "Getting Started" course is open to any level.   

Registration for both opens on June 14th at 9:00am (Mountain Time).


Working on Various Unknown Parentage Cases
I continue to work on several unknown parentage cases, such as the one involving Paul Fronczak (and others that remain private) with my team(s). These types of cases take a tremendous amount of time and effort, but are well worth it in the long run. 


I hope to have the opportunity to catch up with many of you soon!

Saturday, May 10, 2014

AncestryDNA at the National Genealogical Society Conference - A Report from Angie Bush

My colleague and friend, Angie Bush, is attending the National Genealogical Society's conference in Richmond, Virginia this week. She has kindly agreed to fill my readers in on any interesting DNA news from NGS. Her report on the AncestryDNA presentation given by Kenny Freestone follows.

I attended the AncestryDNA presentation by Senior Product Manager, Kenny Freestone, in hopes of learning what new and exciting features Ancestry has on the horizon for genetic genealogists. There was not much new information presented, but there were a few things that I thought might be worth mentioning:


1. In response to questions about AncestryDNA's plans for adding a chromosome browser or segment data, Kenny repeated that Ancestry is working on something that would give their customers access to that type of data, but that it would be something different than what current chromosome browsers offer. No date was provided for launch or when such a feature might appear. He did admit that at this point the tools that Ancestry has for triangulating data are quite lacking. This tells me that they recognize that there is a need for these features. I can only hope that when these new tools are finally released that they really are as good as what they are claimed to be. I found it very interesting that he used a slide showing how he inherited DNA from a set of third great-grandparents and that he illustrated chromosomes, but that Ancestry provides their customers no way to view this type of information.


2. In a somewhat related slide, Kenny showed several of his lines that had been "confirmed" by DNA shaky leaf hints. He said that this was "independent" evidence that his tree was correct. As readers of this blog know, unfortunately you cannot always say that is the case. As a serious genealogist and scientist, I continue to find the lack of segment data to be a problem. In both disciplines it is imperative that data be able to be reviewed. On the genealogy side of Ancestry's site, they do provide the actual images or data in many instances. When viewing any educational video by Ancestry, there is always encouragement to look at the actual image, as it contains so much more information than the transcription. I just cannot understand why this same level of access to the underlying data is kept hidden on the DNA side of their site. 


3. Kenny was asked a question by someone who has Jewish background regarding why there are so many matches at a high level and yet no common ancestor is discovered. Genetic genealogists who have worked with endogamous populations know this can a difficult problem. Kenny did say that they are actively working on this issue, but have not yet come up with a solution.


4. I have long wanted to understand the cut-off levels for how AncestryDNA is predicting matches. For example, if AncestryDNA predicts that you are a 1st - 2nd cousin to a match, then how much total DNA do you share with that person and how many segments do you share? 23andMe and FTDNA have always provided this information. Kenny flashed the following slide, which may be helpful in determining the parameters they are using for predictions:


200 megabases for 2nd cousins

150 megabases for 3rd cousins
100 megabases for 4th cousins
30 megabases for 5th cousins
20 megabases for 6th cousins
10 megabases for those further out
 

This slide raised a question as to whether or not AncestryDNA is using centimorgans or megabases in their matching algorithms. Kenny clarified that they are using a combination. They switched to using centimorgans in November - December 2013. If you tested recently, then your matches are in centimorgans. If it was prior to that date, then your matches are in megabases.

5. Kenny told us that the communication/contact rate between DNA customers was twice that the communication rate between regular customers.
 

6. An audience member asked if Ancestry stored the sample for future/other tests. Kenny didn't directly answer this and said that as the science improves that they will just apply those improvements to the current test. He did say that the only thing better than their test was a full genome sequence, and for that a new sample would need to be submitted.

7. I appreciated the fact that Kenny emphasized that the ethnicity information is an ESTIMATE. It is important that we all remember that the science that each company uses to give us our admixture is still in it's infancy and that each company uses different reference populations to do so. It behooves all of us to take this information with a grain of salt no matter which company we test with.


8. Kenny did a great job answering several questions from audience members regarding Y-DNA and mtDNA testing that were completely unrelated to the product that AncestryDNA offers. Attendees even had specific questions about surname and haplogroup projects. This highlighted the need for those of us in the genetic genealogy community to reach out to the genealogists and help them to understand the power of DNA. Things we take for granted such as the three types of tests and the companies that offer these tests can be confusing. If DNA is to be effectively used as a genealogical research tool or record, there is a significant amount of education that will need to be done.
 

9. Lastly, after the presentation, Kenny showed me that Ancestry has a new "spit kit." The return box and packaging are much more compact now and the kit itself is a bit different. I asked if there were plans to offer some type of assisted collection kit or "cheek swab" as the spit kit can be difficult for older individuals. He said that they recognized this was a need and that Ancestry probably would do something to address it, but that he couldn't confirm anything.

The new AncestryDNA Kit - Packaging
AncestryDNA Kit Contents
AncestryDNA Compact Return Mailer

Thanks to Angie for this AncestryDNA/NGS update!

Monday, February 24, 2014

Announcing the 2014 Institute for Genetic Genealogy Conference


The Institute for Genetic Genealogy is pleased to announce the 2014 International Genetic Genealogy Conference, which will be held August 15-17 in Washington, DC at the National 4-H Conference Center. This conference has been planned in order to address the great need for genetic genealogy education.

An outstanding group of genetic genealogists and population geneticists have agreed to speak at the conference, including representatives from all of the major genetic genealogy companies. Dr. Spencer Wells, who heads the National Geographic Genographic Project, will be the keynote speaker. 


The main portion of the conference will be held on August 16 and 17 with a packed schedule of presentations from morning until night for those who want to learn as much as possible during this unique opportunity. Saturday will run from 8:30 am until 9:15 pm and Sunday from 8:30 am to 5:30 pm. Additionally, Family Tree DNA will hold a workshop in the evening of August 15. (Other genetic genealogy companies have also been offered the opportunity to present workshops on August 15 during the afternoon.) 


More details about the conference and registration information can be found at the website. The registration fee for the conference is $85 and will be limited to 800 total attendees. Meals and lodging will be available at the conference center but must be purchased at least one month in advance. The preliminary conference schedule can be found here and descriptions of the presentations and biographical background about the speakers can be found here.

Tim Janzen (with the assistance of his wife Rachel Janzen) and I have been planning and making preparations for this conference for the past six months. Angie Bush, Charmaine Riley Holley and Paul Woodbury have also provided valuable assistance, including distributing conference flyers at RootsTech and running the Institute for Genetic Genealogy's booth there. 
 

We are grateful to all of the speakers who are willing to share their knowledge with the genetic genealogy community. A complete list of the speakers and their presentations is as follows:

1.  Ancestry.com representative - Ancestry.com DNA products

2.  Jim Bartlett - Getting the Most of Your Autosomal DNA Matches and Triangulation, an Essential Tool to Sort out Your Matches and Map Your DNA

3.  Terry Barton - Surname Project Administration

4.  Dr. Blaine Bettinger - Using Free Third-party Tools to Analyze Your Autosomal DNA

5.  Angie Bush - DNA Case Studies

6.  Rebekah Canada - Mitochondrial DNA Haplogroup H

7.  Shannon Christmas - Identity by Descent: Using DNA to Extend the African-American Pedigree

8.  Karin Corbeil, Diane Harman-Hoog, and Rob Warthen - Not Just for Adoptees: Methods and Tools for Working with Autosomal DNA Results from the Team at DNAGedcom

9.  Family Tree DNA representative - FTDNA Products

10.  Dr. Maurice Gleeson - An Irish Approach to Autosomal DNA Matches

11.  Katherine Hope-Borges - ISOGG

12.  Bill Hurst - Mitochondrial DNA Focusing on Haplogroup K

13.  Dr. Tim Janzen - Using Chromosome Mapping to Help Trace Your Family Tree

14.  Dr. Kathy Johnston - From X Segments to Success Stories: The Use of the X Chromosome in Genetic Genealogy

15.  Thomas Krahn - I've Received my Y Chromosome Sequencing Results - What Now?

16.  Dr. Doug McDonald - Understanding Autosomal Biogeographical Ancestry Results

17.  23andMe representative - 23andMe Features

18.  CeCe Moore - The Four Types of DNA Used in Genetic Genealogy

19.  Dr.  Ken Nordtvedt - Y Haplogroup I — Very Early Europeans?

20.  Dr. Ugo Perego - Native American Ancestry Through DNA Analysis

21.  Dr. David Pike - The Use of Phasing in Genetic Genealogy

22.  Bonnie Schrack - Y chromosome Haplogroups A and B

23.  Larry Vick - Using Y-DNA to Reconstruct a Patrilineal Tree

24.  Debbie Parker Wayne - Mitochondrial DNA: Tools and Techniques for Genealogy

25.  Dr. Spencer Wells - the Genographic Project

26.  Dr. Jim Wilson - BritainsDNA's Chromo2 test and Y chromosome research



We hope to see you there for this wonderful educational opportunity!

Tuesday, January 7, 2014

Artificial Insemination Nightmare Revealed by DNA Test

As anyone familiar with my work is well aware, I am an outspoken advocate of direct-to-consumer genetic testing and strongly believe that power lies in the truth of discovery. However, because I have experience with so many cases where DNA testing has unexpectedly uncovered complex family relationships, I always caution those who decide to DNA test to expect unexpected surprises.

I have never seen a more fitting example of the saying “truth is stranger than fiction” than in the case that I am about to share with you. The family involved has asked that I publish their experience in the hope that others can be helped by it. Further, they wish to emphasize upfront that this is not intended as a negative DNA testing story and that they are thankful for the knowledge gained through their tests.
 

In October of 2012, I was contacted by a genealogist named Paula*. She told me that she and her daughter Ashley* had taken autosomal DNA tests at 23andMe and enjoyed it so much that they had encouraged Paula’s husband and Ashley’s father, Jeff* to test as well. Shockingly, when the results came back, he showed no genetic match to his daughter. (*Names have been withheld at this time for privacy. Update - the family has now publicly revealed their identities. They are Pam, John and Annie Branum.)

Paula explained to me that just over twenty years ago; she and her husband were having difficulty conceiving. Their OB/GYN referred them to a fertility clinic associated with the University of Utah in Salt Lake City. (They have since learned that the legal name of the clinic was Reproductive Medical Technologies, but at that time only knew it as the University's clinic.) Paula underwent artificial insemination with her husband’s sperm several times unsuccessfully and they were thrilled when she conceived on what they had decided would be their last try in mid-August of 1991. They have been blessed with their wonderful daughter, Ashley, for the ensuing 21 years. Paula proudly told me that Ashley excels at everything that she tries – music, dance and even physics - and that she had always expressed an inexplicable desire to learn Russian. Paula had sometimes pondered from whom Ashley had inherited her elegant, long fingers and musical talent, but assumed those traits had somehow skipped a generation or two in Jeff’s or her own family.
 

After this discovery the family decided to undergo traditional paternity testing and they were not surprised when the results confirmed 23andMe’s findings. Since they were desirous of knowledge about Ashley’s paternal biological heritage, I advised them to have her tested at the other two major genetic genealogy testing companies, Family Tree DNA and AncestryDNA, in order to search for close paternal relatives. What we all expected to eventually find was another family who had been clients at the same fertility clinic and had their sample accidentally switched with Jeff’s. Paula and Jeff wondered if Jeff might have a child out there somewhere being raised by Ashley’s biological father.
 

When Ashley’s results came back at AncestryDNA, Paula immediately noticed that Ashley had a predicted 2nd cousin who was not from Paula’s side of the family. Paula’s family has deep Southwestern United States roots and 23andMe’s Ancestry Composition clearly distinguished between her genetic contribution to Ashley’s genome and this unknown significantly Eastern European biological father. 

Ashley's ancestral makeup with Eastern European represented by green


Paula bravely told her story to Ashley’s new cousin via AncestryDNA’s messaging system and waited for a reply. It took about a month, but when the reply came, it was not what had been expected. Cheryl* told Paula that her first cousin, Thomas Ray Lippert (his real name), had lived in Salt Lake City and had mentioned to the family that he was a sperm donor. A sperm donor? That was a strange twist since Paula and Jeff had never requested donor sperm. Further discussion revealed that not only had Tom claimed that he was a sperm donor, but he had actually worked at the fertility clinic Paula and Jeff had used. 

When Cheryl shared her cousin’s name and photo with Paula, the memories came flooding back. Paula and Jeff had actually known Tom Lippert. He had worked at the front desk of the clinic and also as a tech in the back. Paula remembered him proudly displaying dozens of photos of babies behind his desk, boasting that he had helped all of their parents conceive. Looking at all of those beautiful babies and Tom’s confidence gave Paula hope that she and Jeff could have the baby that they so desperately wanted as well. She never could have imagined how far Tom apparently would go to “help” couples conceive. When Paula broke the news to Jeff and showed him Tom’s photo, he told her that he too remembered him and recalled thinking that Tom was a bit odd when he handed him the sample receptacle and the magazine.

Thomas Lippert as a young man


Cheryl told Paula that Tom was deceased and had been an only child, but that his mother was still living and offered to arrange for a DNA test to be done to confirm their suspicions. This test eventually confirmed that Tom was indeed Ashley’s biological father.

Tom's mother's DNA compared to Ashley's DNA, confirming the relationship


Heartbreakingly, Tom’s now 99-year-old mother was excited at the prospect of having a grandchild since Tom had never fathered any children other than the ones that he told his family had been conceived through his “donations”. He had even sent his mother a photo of a darling little boy that he claimed was his biological child, but he did not share the boy’s name or his whereabouts. (Updated 2018: Now located, photo removed by request.)

When Tom’s mother saw the photos of Ashley, her only known grandchild, Cheryl related “she hugged them to her chest with such joy.” Although Tom’s mother was innocent in all of this, understandably, Paula and her family were initially conflicted as to whether they wanted to get further involved with Tom’s family, but over the past year since this discovery they have proven to be extremely helpful and supportive. Cheryl has been a very good friend to the family and this has helped to ease the difficulty of the situation in which they have all found themselves.

Paula’s family still held out hope that it was all just a big mistake and that Tom had not intentionally substituted his sperm for Jeff’s, but what they discovered next made that possibility seem increasingly less likely.

In the second phone call with Paula, Cheryl revealed Tom’s troubled past. Expressing that she wanted to be completely upfront, she told Paula that Tom had served time in prison for kidnapping a female college student. Sickened by this knowledge, Paula searched the Internet for any additional information on him. She was shocked to find an article from People Magazine dated October 20, 1975. What she read was horrifying. The article stated that Tom had been a brilliant law student at Notre Dame Law School and had gone on to a promising early career as a law professor at Southwestern State College. However all that changed, when at 25, he was accused of hatching a bizarre plan to kidnap a young Purdue student and hold her as a prisoner in a “love experiment”. The student was reportedly kept in a black box and subjected to electro- shock therapy in an attempt to brainwash her into falling in love with Tom. After his arrest by the FBI, Tom hired the famed attorney F. Lee Bailey to defend him. Bailey negotiated a plea bargain for him and Tom pleaded guilty to two counts of conspiracy to kidnap and received a sentence of six years in prison, serving two. (See here and here for more information on the case.)

F. Lee Bailey with Thomas Lippert (purchased on eBay)

While Tom’s family disputes some of the charges due to the fact that the victim visited several of their homes and appeared not to be under duress, they concede that whatever the true circumstances, his actions were highly questionable.

The fact that Tom, a felon convicted of victimizing a young woman, was later hired by a clinic whose patients were vulnerable women desperate to conceive, is simply incomprehensible. Obviously, this was one of the last positions that Tom should have been permitted to hold. Paula discovered that after marrying his third wife and being released from prison, Tom had lived in Minnesota for a few years. He eventually moved to Salt Lake City, taking classes at BYU, and his first job was working in the Reproductive Technologies fertility clinic where he was employed for nine years from 1986-1995* (recently updated to 1986-1997 or 1998). This begs the question: Could he have fathered hundreds of children? Paula realized that those dozens of photos that Tom so proudly displayed behind his desk may have been his biological children. She wondered if she should tell Ashley this distressing news about her biological father. Following her deeply held convictions, she decided that Ashley must know the truth and that they must do everything in their power to alert the other families potentially affected by Tom’s actions.


Tom Lippert as he looked when he worked at the clinic

Paula and I have discussed the potential implications of this around the Salt Lake City area, where half-siblings may be unknowingly coming into contact with each other and developing romantic relationships. Since Tom claimed to his family that his sperm was also frozen and shipped to other states, families outside of Utah could be affected as well. This concern is the main reason that Paula and her family have made the unselfish decision to share their story publicly. She explained it to me with these words, “We've talked about losing our privacy when this first comes to light…If we keep this private we won't be able to say, ‘It's okay, we're going through this and we're stronger for it. You too, need to find out if you went to this clinic for this type of procedure (or any other where your husband's sperm was used) during these nine years. These possible half siblings may be attending the same colleges and developing relationships.’" She continued, “I also feel strongly that this can be stopped in the future from ever happening  again. Independent DNA testing [should be mandatory] after the baby is born when using any kind of sperm procedure. No one would do this knowing they would immediately be found out.”

I don’t think any of us can imagine the emotional upheaval this revelation must have caused the family or how violated they must have felt, but through it all they have remained upbeat and thankful for the gift that these unfortunate circumstances brought them - their beautiful daughter, Ashley.  She is an outstanding, well-adjusted young woman who has handled this shocking revelation about her origins with bravery and a positive attitude. This is a strong testament to the wonderful parents that raised her. Their family really is an incredible example of love triumphing over adversity.

It might surprise some to hear Paula’s thoughts on DNA testing and how it has affected her family’s lives. “We still believe wholeheartedly in DNA testing for genealogy,” she told me. “The three of us have said we are glad we now know and if we had it to do over, we would do 23andMe again.”  She also expressed to me how thankful she was with 23andMe’s quick response to her concerns. “They got back to me within 15-20 minutes of me first writing to them. I was in a panic and it was at the end of the day. It meant everything to hear back from them so quickly.” She is steadfast in her conviction that this is something that her family needed to know. She added, “My husband also said that he was glad to find out while he is alive. He wouldn’t want Ashley to ever think that if he had known the truth, maybe he wouldn’t have loved her. He had that opportunity and he made sure she knew he loves her just as much and to him it is insignificant. He is her father and always will be.”

So, you are probably wondering by now - what is the family’s recourse? Tom is in an early grave due to alcoholism (perhaps brought on by a guilty conscience?) and the clinic in question is no longer in business. When contacted and informed of Tom’s alleged treachery, the University of Utah claimed that he was, in fact, a “popular donor”. With his criminal background, this seems highly doubtful. When pressed for his donor number, they have been unable or unwilling to supply it to Paula, Ashley or even Tom’s widow, although all should be legally entitled to it if it indeed ever existed. Paula was reportedly told that they were unable to release it due to privacy concerns. However, when Tom’s widow requested it, which is her right as his next of kin, she was reportedly told that they did not have that information. (Sperm donor registries were searched under the name of the clinic and the university for any  donors fitting Tom's description - none were found.)  Further, the university has so far declined to contact the families who conceived at this clinic during the years that Tom worked there and advise them of the situation.

Both families, including Tom’s cousin and widow, support Paula in her efforts to get to the truth.  We believe that any other families affected would want to know as well. There is much more to this story – too much to share here today. The bottom line is that we are hoping that couples who used the Reproductive Medical Technologies Clinic in Salt Lake City (which they, like Paula, may have simply known as the University of Utah’s fertility clinic) to conceive between 1986 and 1995 will hear about this story and reach out to Paula. We have set up a site for inquiries (here). If couples suspect that they may have been one of Tom’s victims, they are encouraged to have their children tested at 23andMe where the DNA of both Ashley and Tom’s mother is in the database for comparison purposes. Testing at either of the other two companies – AncestryDNA or Family Tree DNA - will also match any half-siblings to Ashley’s DNA.

“I think about the families in SLC who will have this to deal with this, this year.  I want the truth for these families and then to move on with our lives. “ – Paula


We will keep everyone informed of any significant developments in this very important story.