The Future of Genetic Genealogy – Dream Big

I spent many years working with clients in the technology space and when I did needs assessments for them, I used to tell them, “Dream Big, the sky is the limit.  Do not edit yourself by using the word “but.”  Let me do the editing.”  That freed them of all the reasons why they couldn’t and allowed them to look at everything as potentially possible.

One of our blog followers asked me what I saw as the future of genetic genealogy and what my wish list would be.  That was a few weeks ago.  I’ve been thinking.  And dreaming big.

As many of you know, I have been on a many-years (OK, multiple decades) quest to prove or disprove my Native American heritage based on tidbits and whispered secrets.  Ironically, the line where it was supposed to have existed came up quite barren, although there are still some females without surnames.  However, other lines have shown both Native and African ancestors.  So I have been duly rewarded for my years of persistence, some would say obsessiveness.

Many years ago, back in the genetic genealogy dark ages, in 2003, a company that no longer exists introduced a test that provided customers with percentages of ethnicity based on about 150 autosomal markers.  My test results were returned as 10% Native American and 15% East Asian, which was interpreted to be another flavor of Native American, for a total of 25%.

You can read about this test and others to detect minority admixture, meaning minority in the sense of not your primary ethnicity, in the paper titled Revealing American Indian and Minority Heritage Using Y-line, Mitochondrial, Autosomal and X Chromosomal Data Combined with Pedigree Analysis.  This paper was published in the Journal of Genetic Genealogy, Vol. 6 #1 in 2010.

As excited as I was about these 2003 results, I knew the percentages had to be wrong, because I had done enough genealogy that I knew that 25% equaled one grandparent, and I didn’t have that much Native ancestry.  However, it did confirm that I was not hunting for a needle in the proverbial haystack that did not exist.  And yes, I eventually found more than one needle along with a few slivers along the way.

However, obtaining that confirmation that I had Native ancestry did not satisfy me.  That would be like saying that finding a new ancestor satisfies the genealogist, and we ALL KNOW that finding a new ancestor simply whets your appetite and stokes the fires for more.  That’s why genealogy is never done.  Each discovery, each question answered, leads to at least two more.

So I began to mercilessly hound those whom I could corner and asked about using autosomal DNA for ancestor identification. I asked Bennett Greenspan about this, several times, in several different ways.  I remember him groaning and simply saying it wasn’t going to happen.  He had a million reasons why.  I didn’t care.  I knew that those were only temporary constraints.  I asked Michael Hammer, Max Blankfeld, Matt Kaplan, Bruce Walsh and I think I even asked Spencer Wells.  All of them said no, in a number of different and very innovative ways.  Well, I’m a mother, and I can say no with the best of them, and no matter how nicely or covered in techno-speak it is, no is still no.

They told me it would be too expensive, there were not enough reference models, it had never been done before, and the technology wasn’t there.  I knew they were right at that time, but logically, I knew it could be done and I hoped, would be someday. I think it was Bruce that said “never” when I pushed him a little.  He was very gracious about eating those words a few years later and kind of chuckled, shrugged his shoulders, smiled and said, “Science is science.”  It’s so true, what couldn’t be done yesterday and was barely imaginable is now routine.  Bennett’s infamous story of how Michael Hammer finally agreed to test his Y chromosome back in 2000 (if Bennett would just go away and stop hounding him) is living proof of that.  So is Michael’s “throw away line” of “You know, someone should start a business doing that.”  Never says that to an entrepreneur.  Of course, the result is Family Tree DNA.  I love living in an age of innovation and being able to work with wonderful and innovative scientists and businessmen.

My autosomal questions that met with repeated rejection were in 2003-2004 timeframe.  In 2007, just a mere 3 or 4 years later, 23andMe introduced their wide spectrum testing product.  This product tested hundreds of thousands of locations, not a few, and was really focused towards health.  However, they offered “cousin matching” and percentages of ethnicity. So, now we know how long “never” is in this industry – between 3 and 4 years.

Bennett groaned the next time I talked to him.  I’m amazed that the man still speaks to me at all.  Yes, we hounded Bennett and Max relentlessly, but being the savvy businessmen that they are, they realized that the future of genetics and therefore genetic genealogy was founded in more information, more data, and he (or she) who would be king of that mountain would not only offer the testing, but user friendly tools to use the data and results effectively and integrate them into a larger whole.

So here we are today, with the Geno 2.0 product having been just released – sporting new autosomal SNPs and thousands of Yline SNPS, more than 10,000 of them – all chip based of course using newly written coding techniques to achieve accuracy never before available.  These are all innovations that we could have only dreamed about 5 years ago, before the current technology was available, or maybe we couldn’t even dream that big back then.  After all, that was before “never.”

So here is my wish list, where I think we can and should go – and why.  And yes, I know there will be people who tell me why we can’t or how difficult it will be.  But I have learned some modicum of patience and now that I know how long never is, I’m prepared to wait…

Mitochondrial DNA Data Base

As an industry, we are really missing the boat on this one.  Do you want to find out if anyone has tested who descends from your ancestor, Ann McKee born in 1805 in Washington County, Virginia?  You simply can’t do that.  Can’t be done today.

If you want to check on a male ancestor, her husband, Charles Speak, for example, or her father, Andrew McKee, you can go to the Speak or McKee projects and see if either line has been tested or you can go to Ysearch.

But you can’t do that for women.  Between Anne Mckee and me are 4 surnames (generations), Speak, Claxton, Bolton and of course, Estes.  Descending through females means dealing with multiple surnames, because every female in each family married someone with a different surname and began that domino effect of surname changes.  Anne McKee had 7 sisters and between all of them, they have literally hundreds of descendants today, some of whom carry her mitochondrial DNA.  I find it hard to believe that none of them have tested their mitochondrial DNA, but there is no way to find them if they have.

We need a centralized Mitochondrial DNA Data base where you can upload a Gedcom file or you can enter the direct mitochondrial DNA line via prompts.  Why prompts?  Because I can’t tell you how many people complete the oldest mitochondrial ancestor field with some man’s name.  If you prompt them with words like “her mother” at each step of the way, we won’t wind up with the wrong ancestral line attached to the mtDNA.

Recently someone sent me a request having to do with a particular family line and whether or not their ancestor was Jewish.  If I had been able to look in any data base, anyplace, I would have perhaps been able to see if anyone from that maternal line has tested, and the results, similar to projects and Ysearch.  In Ysearch, you can search by surname and it will also show you other pedigree charts in which the name is found, but Mitosearch has no such capability.

Unfortunately, this is a vicious circle.  People tell me that there isn’t the interest in mitochondrial DNA testing that there is in Y-line.  While that’s true, it’s not an absolute and the lack of these tools and data base is decreasing the interest and fostering a sense of hopelessness.  Adding this tool and encouraging people to use it, and prompting them through the steps, would not only increase interest, but would provide a huge service to the genetic genealogy community as a whole.

How many of your mitochondrial lines have been tested but you don’t know it because you have no tools to find them???

Personal Genome Mapping Projects

Today, those on the bleeding edge of autosomal technology are mapping their chromosomes – but we have to do this the hard way today.  There are no tools.

The first step is phasing if you are fortunate enough to have parents or someone you can positively identify from either side or both sides of your family.

This nicely divides your genome in half – your Mom’s side and your Dad’s side.  This allows you to determine, when you receive a match, based on whom else they match, mother or father’s line, which side the match is from.  This immediately narrows the match possibilities to half of your ancestors which is a huge benefit.

As this phasing and matching of people continues, it means that we can color in parts of our personal genetic map with certain ancestors.  For example, I know that I match 3 Vannoy cousins on chromosome 15, so the part of chromosome 15 that I received from my Dad is “Vannoy” and I can “color in” that part as confirmed Vannoy.

The first company to provide us with a tool to allow us to “color” our chromosomes by ancestral family and keep track of who is connected to which location will be a big winner overall.  Today, we do it manually on a spreadsheet.

This could be done much easier with automated tools and the information is available to do it.  Obviously some type of data base and Gedcom type tools would be required for this as well but perhaps some of the effort invested in the mitochondrial DNA data base could be leveraged here as well, especially if both were designed as an integral part of a large system encompassing and combining the genealogy with the genetic tools we need.

Ancestor Reconstruction Mapping Projects

The next logical step in this progression is the reconstruction of our ancestors (on paper, not literally) using genetic mapping.  If we can map our own genome, then we can take the parts of all of the descendants and map the ancestor.

For example, if I know that my common ancestor with all of these Vannoy cousins is John Francis Vannoy, born in 1719, through his various sons, then I can “create” a chromosome model of John Francis Vannoy and begin to reassemble him, sort of a genetic reconstitution.  Over time, as more cousins match and prove their genesis to John, then we can color in more parts of John or his ancestors that I don’t carry, but others do.

Maybe someday we can also further divide John into his ancestors.  His father was Francis Vannoy and his mother was an Anderson.  John Francis Vannoy carries parts of those and other ancestors as well.  His grandmother was an Opdyke and his other grandmother was possibly a Cornwall.

I’d love to have a chromosomal GIS map in the future.  For those who don’t know what a GIS map is, GIS stands for Geographic Information Systems and these maps can be peeled away in layers.  For example, we could start with ourselves and then “assemble” the Vannoy parts of us and also the Vannoy parts of other cousins into a “Vannoy” ancestor whose various parts, like Anderson, Cornwall, Opdyke and of course earlier Vannoys could then be layered onto their own maps so what we could virtually “see” what our ancestors looked like genetically.  Other layers of ourselves, like a Miller layer, an Estes layer, etc. could also be peeled away to become part of Johann Michael Miller and Abraham Estes, the progenitors of those lines as well.  Of course, this requires collaboration.  We could call these our Wiki-Ancestor maps.

Ancestor Matching

If we can map ancestors then we can also match those ancestors.  Let’s say I’m brick walled for example on my Moore line.  I have the Y-line, but I’m stumped beyond that with no matches that can take me beyond my brick wall in Halifax Co., Va.  My William Moore born about 1750 was the son of James, born about 1720 and wife Mary Rice, but William’s wife only has a first name, Lucy.  We have always suspected that she might be a Henderson.

Let’s say we can genetically map some of William and James.  In this process, we discover that parts of William’s children in that Moore line also match a Henderson ancestor who is being reconstructed by the Henderson project administrator.  If Henderson matches are only present for the children of William, not his siblings descendants, this would strongly suggest that his wife was a Henderson or at least closely related to them.

Taking this a step further, we have very few matches with Moores on the Y-line and all that we do match are brick walled as well, often later in time than we are.  If we can genetically map some of our Moore line, we can then potentially match another Moore line that is also being mapped, but that who doesn’t have any people who have tested the Y-line.  In some cases, one could still be related to the Moore line, but not through the Y-line, but through a son born illegitimately to a Moore daughter, hence carrying the Moore surname, but not the ancestral Moore Y chromosome.  That would explain why the Y-line doesn’t match, but would connect to the correct Moore family in spite of that little difficulty.

Ancestor matching would increase our opportunities of knocking down those pesky long-standing brick walls that have failed to fall with Y-line testing and genealogy alone.

Full Genome Testing

All of what I’ve described above is just the tip of the iceberg.  When full genome testing becomes available, it will be the power of the matching tools that make a difference.  Full genome testing without associated tools will be worthless.  I hope that we as a community take the opportunity now to lay the foundation for the wonderful future that lies in front of us, beckoning and begging us to pave the road to get there.  Our ancestors are waiting to be discovered.  I can see them just beyond the horizon, waiting to be plucked from obscurity.  Can you?

18 thoughts on “The Future of Genetic Genealogy – Dream Big

  1. In 1993 geneticist Dr. Thomas Roderick and Robert Charles Anderson, FASG, started a mitochondrial DNA study and collected paper umbilical lines from some number of participants. Imagine where we’d be now if this had only gotten traction.

  2. Your post is a great introduction to those who wonder about the value of DNA testing for genealogy. You give a great picture of what it was like in the early days (only 12 years ago!) and the progress that’s been made.

    I was so impressed with the post that I linked to it at the FTDNA Forum to answer someone whose basic question is how useful is genetic genealogy – http://forums.familytreedna.com/showthread.php?p=349855#post349855

    Your wish list for future developments in genetic genealogy is good. I have no disagreements.

  3. Roberta, I love your ideas and know that before things can happen you have to have a dream or an idea. You have given some well thought ideas which you can now start pushing along with the rest of us. I would love to be able to do more with the mtDNA as well as I am brick walled there. I even took the mtDNA full sequence hoping that will help. These ideas need to go in Bennett’s & Max’s ears!

  4. i am howard e wall jr birth 1936 washington d.c., my father howard e wall birth abt 1912 n.c. wake, his father was james a wall birth 1884, providence,randolph, n. c., his father was marion miles wall birth 1857 randoliph n.c. death 07-12-1930 guilford n.c.,his father was henderson wall birth 03-04-1831 randolph co. n.c..( f tree Y DNA howard e wall, daved gaylord wall and one sister, one niece looking for my n/a blood

  5. Great ideas, but who do you think should fund all of this? We paid for a product and got it. You cannot re-negotiate after the product has been delivered, meaning asking for more product. Let us be fair…….

    • What about products, like software, that provide “updates” that unlock new features in the product? We generally don’t pay extra for that. Even some hardware products are given “firmware” updates that unlock features in the product that the manufacturer was not able to activate successfully initially. Maybe companies can emulate Microsoft and offer many flavors of Windows, each tier more feature-rich than the next.

  6. Thanks for the great blog. I was always enjoy them. So, imagine my surprise when surfing gedmatch, that you have a kit on my match list. OK, since I have 255 FF matches,not too surprising. I’m hoping to find out who my birth father is/was someday, You have a great vision, and I think we are just hitting the top of the iceberg in genealogy.

  7. An mtDNA data base needs to focus on localities and time periods where matching may be significant. Birth or married surmaes are useful for identifying the plaayers,, but have a minimal role in finding matches between matenral lines.

  8. Excellent article Roberta, and I share all your dreams. If I may add one, that I hope Geno 2.0 may see, and that is the spread of autosomal testing to thousands more participants. The more that test, the better the sample, and we can change the outdated regional ancestry descriptors that have bugged me and others up till now. As an adoptee without a known genealogy I keep wating for a closer match than what I have so far, and that can only happen with more testing. So keep spreading the news and thanks for your blog.

  9. Pingback: Family Tree DNA Conference 2012 – Nits and Grits | DNAeXplained – Genetic Genealogy

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