Wednesday, December 3, 2014

The Folly of Using Small Segments as Proof in Genealogical Research, Part One

Responsible genealogists adhere to high standards of proof in their research, in the evidence that they present and in the conclusions they reach. I strongly believe that genetic genealogists should as well. When we make claims that are not supported by sound science, then we undermine the credibility of our field.

Experience has demonstrated to me that there is great folly in claiming small segments can be used as proof (yes, even supporting) in genealogical research. When I use the term "small segments" in this article,  I am referring to unphased "matching" segments under 5 centiMorgans and I am addressing their use in matching, not admixture.  A few genetic genealogists have argued that there are certain instances when small segments are not only helpful in our genealogical research, but reliable. I strongly disagree.

One of the many problems with utilizing small segments is that, in general, people tend to see evidence that supports their theories and reject evidence that does not. Because the nature of small segments is so random, as I will demonstrate, it is possible that an individual will see patterns where none exist in reality, such as in a cluster of tiny, meaningless "matching" segments. This also holds true for admixture analysis.

Blaine Bettinger already wrote a great blog explaining the work that has already been done on this issue along with some of his own comparisons, so I am going to concentrate on the multi-generational data to which I have access. Angie Bush has kindly allowed me access to her family's extensive data while she is unable to collaborate on this post since she is on a genealogy cruise. (Thanks, Angie!)

All of these examples are the first ones I looked at, so they are randomly chosen and not selected with bias. There is a huge amount of analysis that can still be performed on this data set. Since Gedmatch was down when I wrote this, I concentrated on Family Tree DNA data. When I am able to access Gedmatch again, I will add to my analysis.

First let's look at this simple chart of my data compared to James, a confirmed paternal fourth cousin, and then my father's data compared to that same cousin. As you can see, both my father and I have one substantial matching segment with James on Chromosome 4 (in purple). Some would argue that because we have one longer matching segment, that this makes the matching small segments reported more valid and thus can be more responsibly attributed to our known common ancestor.

Notice the segments highlighted in red in my chart. Those are all segments that were reported to be matching between me and James that do not show up as matches with my father. So, right off the bat, we can eliminate eight segments of what some might claim is supporting evidence of the known relationship with James.  That is 66.6% of the segments under 5 cM, which is in line with what was found in the 23andMe study.


Since I have no reason to believe that I inherited those segments from my mother, they are likely pseudo-segments. Pseudo-segments are spliced together by jumping between alleles from mom and dad, impersonating a matching stretch of DNA where one does not exist. The inability to distinguish these from authentic matching segments is a limitation of our current technology. Could they have actually come from my mother, you might be asking? My mother does not match James at the Family Tree DNA thresholds and I can't check Gedmatch to be sure, but there are no known common origins between them. (I am checking with James to see if he is willing to allow me to make that comparison for my next post.) Regardless, this analysis clearly disproves that the red segments are a result of the known paternal relationship. As such, there should be no argument to the conclusion that the majority of the small segments in this randomly chosen example cannot function as supporting evidence of the primary relationship in any way.

Next, look at the green segments. In this case, it appears that I inherited those from my father, but if you look closely, they are actually longer for me than for my father. This means that they are at least, partially, false positives or pseudo-segments. Incidentally, the one substantial matching segment we have in common (purple) is also reported to be a bit longer for me than for my father, which illustrates that it is questionable to rely too heavily on what appear to be exact assignments. In my list of matching segments, only the pink segments on chromosomes 2 and 3 are left as potentially fully IBD segments. Some will say that the fact that they persist from parent to child makes them more reliable indicators of a genealogical relationship. Perhaps, but there is no proof that that the pink segments weren't originally pseudo-segments interpreted as a match by the technology in my father's data and then passed to me through recombination of his two chromosomes. Does that sound far-fetched? Well let's see by looking at multi-generational data.

Please bear with me because this is going to take awhile. This chart is the matching DNA between Brynne and a known Bush cousin from her mother's father's father's branch of the family. The common ancestors are Frederick Bush and Martha White, so you can see that the expected path of inheritance for matching DNA between Brynne and this cousin is:
Brynne >>Angie >> Grandpa >> Great Grandpa


Here we are looking at the threshold set at 5 cM. Brynne's data compared to the Bush cousin is on the left and the comparison of her mother Angie to this same cousin is on the right.


This is her grandfather's (left) and great grandfather's (right) DNA compared to the same cousin.


These are nicely consistent with all of Brynne's matching segments being inherited from her great grandfather, as would be expected.

Now, let's look at the same comparisons with the threshold lowered to 1 centiMorgan.

Brynne and Angie:



Grandfather and great grandfather:
                   
             

As you can see things got very messy at this level. We have all kinds of problems and inconsistencies with the data now. Let's look at just a few.

Chromosome 11:

As you can see Brynne has three small segments (under 5 cM) in common with her known Bush cousin on Chromosome 11. One is lost as we move to her mother Angie's comparison, but two persist. So, if the theory is correct that when a small segment persists over two generations that it is more likely to be identical by descent or attributable to the known common ancestor, then the two remaining ones should be IBD. However, look what happens - another is lost when we move the next generation back in time toward the common ancestor with the known cousin and then finally all three have disappeared by the time we get to the great grandfather. This is the opposite of what we should be seeing. Could these last two segments be attributable to another common ancestor on Brynne's grandmother's and great grandmother's branches of her tree? Possibly, but if so, that still doesn't support the claim that small segments help to prove the primary relationship responsible for the large matching segments. In fact, it refutes it because it demonstrates that even in families with no known pedigree collapse, such as this one, there still may be small segments inherited from distant common ancestors.

We saw other problems too. In some cases, like on Chromosomes 3 and 6, segments disappear at one generation and seemingly reappear at the next. That tells us one of two things - that coincidences happen and/or that the technology is not reliably picking up these small segments consistently. Either scenario does not instill confidence in genealogical conclusions based on small segment analysis.

Chromosome 3: Grandpa was "skipped" and the segment was almost three times larger in the most recent generation which is opposite of what we would expect to see if it was identical by descent.

Chromosome 6: Mom was "skipped". Notice the high number of SNPs (again many more in the most recent generation), which makes it seem less likely that it was simply missed by the technology.

These examples lend credence to the myth that DNA can skip a generation, which we all know to be untrue.

Most importantly, in this entire comparison, NOT ONE of Brynne's small segments shared with her known Bush cousin persisted consistently through all four generations on the path back to the known common ancestor.

When going through this data, I saw so many examples that fly in the face of the belief that small segments can, in any way, be reliable indicators of a genealogical relationship that I couldn't even begin to cover them all here. Since Gedmatch was down while I was writing this, I was unable to do some of the comparisons I had planned, so perhaps I will do that at a later time.

In the meantime, since I read a lot of comments over the last few days that people feel comfortable mapping small segments to their known ancestors using comparisons of their close relatives, I decided to see if that, at least, could stand up to analysis. Let's look at Brynne compared to her maternal grandparents.


We can see her DNA mapped to her grandfather in orange and her grandmother in blue. It is quite clean at the 5 cM threshold on the left with almost no overlap as we would expect, however when you drop the threshold to 1 cM, you can start to see issues on the right. Look at Chromosome 1, for example. There are three small segments from the grandparents that are directly in opposition to the obvious inheritance pattern. You can also see it on chromosomes 3, 5, 6, 10, 12 and 14 (click image to enlarge). If you only had one of the grandparents tested, you would map those small segments to the wrong grandparent and, thus, be "barking up the wrong" branch of the tree.

Brynne's DNA mapped to her maternal grandparents

Let's look more closely at Brynne's Chromosome 14 and the inheritance from her maternal grandparents through to her great grandfather Bush.


The pink in the image below is the comparison with her mother, Angie. Of course, they share across the length of the chromosome. Then, you can see, in green, the DNA she shares with her maternal grandfather and, in blue, the DNA she shares with her great grandfather from the same line. It appears that she has one long segment from her grandfather and then one small one that she inherited from her great grandfather through her grandfather. You would feel pretty safe mapping that small blue/green segment to her great grandfather, right? There is only one problem...the orange is the DNA she inherited from her maternal grandmother! That small segment falls right where the DNA she inherited from her mother came from her maternal grandmother, not her grandfather! She couldn't have inherited DNA from both her maternal grandmother and her maternal grandfather on that spot, so the small segment must be a false positive even though it persisted over multiple generations.



You can see similar problems on Chromosome 1, 5 and 6.

Remember she can't inherit DNA in the same spot from both grandma and grandpa.


Pink - mother, green = grandfather, blue = great grandfather (father of grandfather), orange = grandmother. 

All three of these chromosomes show small segments that fall in sections inherited from the opposite side of the family, proving they are false positives. Look at the colorful pile-up on Chromosome 6. Some of these segments are almost 5 cM!

There is so much more to say about the use of small segments in genealogical research and a huge amount of data to explore, but I will stop here for today. I think that these few examples should give any genetic genealogist who believes that small segments can, in any way, support genealogical theories serious pause for thought.

In a later article, we will examine the assertion that small segments can prove useful as "population specific" guides and if there is any support for the recent ancient genome comparison analysis. The fact that these segments are not consistently inherited certainly calls that type of analysis into question as well.

I encourage those of you with access to multi-generational data to perform a similar analysis and let us know what you find. The more data, the better!

[Note: In the future, I believe that we will be able to utilize smaller segments in our research and even assign them to specific ancestors through chromosome mapping, but this will only be possible when technology has advanced considerably and we are using higher resolution autosomal DNA testing and much improved phasing engines. The exception is Tim Janzen who is attempting to do so now through highly technical and advanced work. He is phasing his data through testing and comparison of large numbers of known relatives, many more than the vast majority of genealogists will ever test. To my knowledge, he has never claimed to have used small segments to break down any genealogical brick walls or to have proven anything in that regard, even as supporting evidence.]

Sunday, November 23, 2014

Don't Miss the Special DNA-Themed Episode of "Finding Your Roots" on Tuesday!

This upcoming Tuesday is the last episode of season two of "Finding Your Roots with Henry Louis Gates, Jr."  Fortunately, for all of us genetic genealogy enthusiasts, the theme for this episode is DNA! I will be making an appearance on the show to discuss the genetic genealogy of the guests, Jessica Alba and Deval Patrick, as well as that of Dr. Gates. (I'm not too happy to be appearing right after/before gorgeous Jessica Alba!)

Don't forget to check your local PBS listings for Tuesday night and set your DVR if you can't watch. Even with these wonderful guests and Dr. Gates at his best, genetic genealogy is the star of the show this time! Let's make sure this episode gets top ratings to show how popular genetic genealogy really is and that the audience wants to see it! 

That's me on set with Dr. Gates and his family tree


I just found a clip from the upcoming episode here.

If you have missed any of my behind-the-scenes articles for the PBS site discussing the genetic genealogy research from the show in more detail, you can find the links below.


Behind the Scenes of Episode Four
"Mitochondrial DNA or “mtDNA” is the type of DNA that is passed directly from a mother to her children. Since only females pass it on, it is an unbroken chain connecting us to our matrilineal ancestors stretching back through time. No matter how far back you go, you only have one direct maternal ancestor in each generation and she is the one from whom you inherited your mtDNA." 

Read more... 

Behind the Scenes of Episode Five
"Many have told me that last week’s episode featuring the three chefs was their favorite yet. Although it is impossible for me to choose which episode I have enjoyed the most since so much work was invested in each one, the research that I did on Tom Colicchio’s Italian family tree turned out to be one of my favorite cases of the season."

Read more...

Behind the Scenes of Episode Six
"Last week’s episode focused on the roots of Nas, Valerie Jarrett and Angela Bassett and their connection to slavery. Most of the DNA section was devoted to revealing their admixture and, for Nas and Angela, identifying specific ancestral origins in Africa. While this can be deeply meaningful, unfortunately, taking the next step is rarely possible for African Americans."

Read more..

Behind the Scenes of Episode Seven
"The episode that aired last week with Carole King, Alan Dershowitz and Tony Kushner did not include any DNA research, but that doesn’t mean that I hesitated to delve into their genetic genealogy. In fact, a short segment featuring Alan is included in the special DNA-themed last episode scheduled to air on November 25."

Read more...

Behind the Scenes of Episode Eight
"Sometimes no matter how hard I try, with so little time to research, I just can’t come up with a good DNA-related story angle for certain guests. That is pretty much the case for last week’s episode. This typically happens when the DNA supports the genealogical research well and there are no real surprises or mysteries to explore. This isn’t entirely unexpected for people who have primarily British and/or Colonial roots like Sting and Sally Field where there is a very good genealogical paper trail to follow."

Read more...

If you missed any of the episodes, they can be viewed here

We are already deep into research for Season Three, so don't worry, we will be back before you know it!

Tuesday, October 14, 2014

Don't Miss My Behind-the-Scenes Article Series Published on the PBS "Finding Your Roots" Website

Credits from Season Two of "Finding Your Roots"

I haven't been blogging a lot lately due to my heavy workload, but I wanted to let my readers know that I am in the middle of writing a series of articles for the official PBS "Finding Your Roots with Henry Louis Gates, Jr." website in conjunction with the airing of season two of the series. Since it is impossible to detail all of the research done for each of the guests in the actual episodes, I am providing a behind-the-scenes look at some of the genetic genealogy research - providing explanations about what does air and sharing research that did not make it into the final version of the show. Never did I imagine that I would be working on the show and writing for the PBS website when I wrote my series in 2012 analyzing the DNA research used in season one of "Finding Your Roots".



Below I have listed the articles that have been published so far:

Intro to the Season
DNA 101: The Secret's in the Science
"For me, working on this series is a dream job, and it presents a wonderful opportunity to showcase the potential of genetic genealogy to viewers. Over the next ten weeks, I look forward to giving you a glimpse behind the scenes.

Our ancestors’ stories come down to us in many ways – through historical records, oral history passed through our families and in each cell that makes us who we are. The research team at “Finding Your Roots” relies on all of these to investigate the family histories of our guests. Throughout production, family members are interviewed, genealogical records are intensively searched and DNA is thoroughly analyzed."

Read more...
http://www.pbs.org/wnet/finding-your-roots/blog/dna-101-dispatches-finding-roots-lab/

Behind the scenes of Episode One
Finding Fathers: Decoding the Y-Chromosome
"For last week’s episode, we researched the family trees of three people who yearned to know more about their paternal ancestry – Courtney B. Vance, Stephen King and Gloria Reuben. As a genetic genealogist, the first thing that comes to mind when I hear that there are paternal mysteries to unravel is that Y-chromosome DNA testing is a must."

Read more...
http://www.pbs.org/wnet/finding-your-roots/blog/finding-fathers-decoding-y-chromosome/

Behind the scenes of Episode Two
Autosomal DNA: Hints from Our Ancestors
"Last week’s episode featuring Derek Jeter, Billie Jean King and Rebecca Lobo concluded with a short vignette about each of their DNA. Cumulatively this 6-minute piece represented many hours of research and necessarily simplified the process that led us to the conclusions presented. As promised, I will share details of some of the genetic genealogy work done behind the scenes."

Read more...
http://www.pbs.org/wnet/finding-your-roots/blog/breaking-autosomal-dna/

Behind the scenes of Episode Three
Telling Stories with Autosomal DNA
"For last week’s episode, the 'Finding Your Roots' team researched the families of three storytellers, Anna Deavere Smith, Anderson Cooper and Ken Burns. For all three there were questions that traditional genealogical research could not answer, so we turned to autosomal DNA to see if it had its own stories to tell."

Read more...
http://www.pbs.org/wnet/finding-your-roots/blog/telling-stories-autosomal-dna/

Don't miss tonight's episode airing on PBS with Ben Affleck, Khandi Alexander and Ben Jealous. If you missed any of the previous episodes, they can be viewed here.

Sunday, September 21, 2014

Videos from the I4GG Conference Are Now Available


The videos are now available from the Institute for Genetic Genealogy's 2014 International Genetic Genealogy Conference held last month in Washington D.C. The links have been emailed to all attendees and are available for sale to those of you who were not able to attend the event. Access to the videos may be purchased here.  

We are offering the entire package of 27 presentations for $50 and individual videos for $4. We have kept the cost low so as many people can benefit from the wonderfully educational presentations that were given there as possible. We are continuing as a not-for-profit effort and the proceeds from the sales will be shared with the speakers and used to cover remaining expenses from the conference. 

We used professional video and audio equipment in the main auditorium, so the videos that were shot in the Aiton Auditorium are of higher quality than the videos that were shot in the Ohio Room. All presentations were videotaped except those of Spencer Well and Angie Bush. We did videotape Jim Bartlett's presentation, but unfortunately the video card that held that presentation was faulty and we were unable to recover the recording. Fortunately, much of the material that Jim covered in his presentation was also included in his portion of the Family Tree DNA workshop video, so if you are interested in seeing his excellent presentation on autosomal DNA, then please see that video. (Note: The videos can be watched in HD by adjusting the settings on YouTube, which improves the quality.)
 
We would appreciate it if the community members would not share the links to the videos with others who did not attend the conference or purchase access because doing so will deprive the speakers of additional revenue from the sale of the videos that they would otherwise be receiving. If those who did not attend the conference ask you for more information about how to gain access to the videos, please refer them to the Institute for Genetic Genealogy website.
 
Tim and I are still discussing options for the next Institute for Genetic Genealogy Conference. We would like to hold the next conference within the next one to two years on the West Coast. We will post more information to the community as soon as we have solidified the date and location of the next conference.  


We are grateful to the speakers and to all of you who helped contribute to the success of this year's conference.

Below is a list of the presentations available for viewing.
Aiton Auditorium (higher quality videos):
Ancestry.com Workshop by Anna Swayne B.S. – Getting the Most from AncestryDNA – (Beginner)
23andMe Workshop by Joanna Mountain Ph.D. and Christine Moschella – Exploring All of 23andMe’s Genealogy Features – (Intermediate)
Family Tree DNA Workshop – Exploring All Family Tree DNA Products by Maurice Gleeson (Y chromosome overview), Jim Bartlett (Family Finder/autosomal DNA), CeCe Moore (mitochondrial DNA overview), and Janine Cloud (other features) – (Intermediate)
Blaine Bettinger Ph.D., J.D. – Using Free Third-Party Tools to Analyze Your Autosomal DNA – (Intermediate)
Rebekah Canada B.S. – Wanderlust – The Story of the Origins and Travels of mtDNA Haplogroup H through History and Scientific Literature – (Intermediate)
Julie Granka Ph.D. – AncestryDNA matching: large-scale findings and technology breakthroughs – (Intermediate)
William E. Howard III, Ph.D. – Using Correlation Techniques on Y-Chromosome Haplotypes to Determine TMRCAs, Date STR Marker Strings, Surname Groups, Haplogroups and SNPs – (Advanced)
Tim Janzen M.D. – Using Chromosome Mapping to Help Trace Your Family Tree – (Advanced)

Razib Kahn B.S. – Tearing the Seamless Fabric, Ancestry as a Jigsaw Puzzle – (Intermediate)

Thomas Krahn Dipl.-Ing. – I’ve Received My Y Chromosome Sequencing Results – What Now? – (Advanced)


CeCe Moore – The Four Types of DNA Used in Genetic Genealogy – (Beginner/Intermediate)


Joanna Mountain Ph.D. – 23andMe Features – (Intermediate)
Ugo Perego Ph.D. – Native American Ancestry through DNA Analysis – (Intermediate)


Judy Russell J.D. – After the Courthouse Burns: Lighting Research Fires with DNA – (Intermediate)


Larry Vick M.S. – Using Y-DNA to Reconstruct a Patrilineal Tree – (Beginner)


Ohio Room (lower quality videos):


Terry Barton M.B.A. – Surname Project Administration – (Intermediate)


Shannon Christmas M.A. – Identity by Descent: Using DNA to Extend the African-American Pedigree – (Intermediate)

Karin Corbeil B.S., Diane Harman Hoog M.B.A., and Rob Warthen M.S. – Not Just for Adoptees – Methods and Tools for Working with Autosomal DNA from the Team at DNAGedcom.com – (Intermediate)


Katherine Hope Borges – International Society of Genetic Genealogy (ISOGG) – (Beginner)


William Hurst B.S. – Mitochondrial DNA Focusing on Haplogroup K – (Intermediate)


Kathy Johnston M.D. – From X Segments to Success Stories: The Use of the X Chromosome in Genetic Genealogy – (Advanced)


Maurice Gleeson M.D. – An Irish Approach to Autosomal DNA Matches – (Intermediate)


Greg Magoon Ph.D. – ‘Next-gen’ Y chromosome Sequencing – (Advanced)


Doug McDonald Ph.D. – Understanding Autosomal Biogeographical Ancestry Results – (Advanced)


David Pike Ph.D. – The Use of Phasing in Genetic Genealogy – (Advanced)


Bonnie Schrack B.A. – Y chromosome Haplogroups A and B – (Intermediate)


Debbie Parker Wayne CG – Mitochondrial DNA: Tools and Techniques for Genealogy – (Beginner)

Sunday, September 14, 2014

Upcoming Genetic Genealogy Educational Opportunities



My partner in the DNA Detectives, Angie Bush, and I are often asked about educational opportunities for those wanting to understand how to use DNA in their genealogical research, including how to find missing biological family and/or how to become a professional genetic genealogist. There are several upcoming events that one or both of us will be speaking at, and we wanted to let you know about them. Come and visit us and learn more about using DNA in your research and business!

1.  North San Diego County Genealogy Society's Fall Seminar will feature four presentations focused on DNA given by Kathleen Cooper, Jean Moss, Michelle Trostler and me. If you are local to Carlsbad, CA, please join us! (Tim Janzen will also be speaking at our NSDCGS DNA Interest Group meeting in Carlsbad on Oct. 16th.)

2.  October 17th-19th is The Genealogy Event in New York City with a Special DNA Day held on Sunday. Angie and I will both be speaking at the DNA Day, as will our colleague Blaine Bettinger and Bennett Greenspan from Family Tree DNA. This should be a fun and exciting event, and we would love to see you there.

3.  On November 1st, the International Commission for the Accreditation of Professional Genealogists will be holding their annual fall conference in Provo, Utah. There will be a day-long track at this conference covering all aspects of DNA testing for genealogical research taught by Angie and Paul Woodbury. If you are in Utah or nearby, this will be an excellent series of lectures that you should strongly consider attending.

4.  From November 29th to December 6th, Angie will be on a cruise sponsored by Heritage Books teaching about genetic genealogy. Craig Scott, Cyndi Ingle, Mark Lowe, and Bill Litchman will also be joining her lecturing on subjects in their areas of expertise. There will be many opportunities for individual consultation and/or small meetings with Angie about your genetic genealogy questions. This is a unique opportunity you dont want to miss!

**If you are a project administrator, please don't miss registration for the Family Tree DNA conference to be held in Houston, Oct. 10-12. (I will be speaking there as well, but on mitochondrial DNA which is unusual for me.) Registration ends soon and must be done through your GAP sign-in. 


Early 2015 events that we will both be speaking at include:

  The Association of Professional Genealogists Professional Management Conference held January 8th and 9th in Salt Lake City, Utah. Early bird registration ends November 15th, so register now for best pricing!

  The FGS and RootsTech Conferences held February 11th-14th in Salt Lake City. Early bird pricing ends September 15th!

  The Advanced Genetic Genealogy Course sponsored by the Council for the Advancement of Forensic Genealogy held March 26-28 in Dallas, Texas. This course is specifically designed to address unknown parentage/adoption cases. Seating is limited, so dont wait to sign-up! Register here

Thursday, August 28, 2014

Family Tree DNA's End of Summer Y-DNA Sale

I received this welcome news from Family tree DNA today:

As the season draws to a close, join us for one last celebration with our End of Summer Y-DNA Sale! Customers can order a Y-DNA test and join the world's largest Y-DNA database today.  All Y-DNA tests and upgrades have been marked down for significant savings!

Time is limited.  The sale ends 9/3/2014.


As an added bonus, Big Y is also on sale for just $495.  Big Y coupons acquired during the Father's Day Sale can be used on Big Y orders placed during the End of Summer Sale.  With Big Y, 340,000 years of Y-DNA ancestry is just a test away!

Order here.
Standard TestsRegular PriceSale Price
Y-37$169$129
Y-67$268$199
Y-111$367$279
Big Y$595$495

UpgradesRegular PriceSale Price
Y-12 -> Y-37$99$70
Y-12 -> Y-67$189$148
Y-12 -> Y-111$339$239
Y-25 -> Y-37$49$35
Y-25 -> Y-67$148$114
Y-25 -> Y-111$249$209
Y-37 -> Y-67$99$79
Y-37 -> Y-111$220$179
Y-67 -> Y-111$129$109

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!