The Genetic Genealogist

Last week I wrote about the results of my Family Finder autosomal DNA test by Family Tree DNA (see “A Review of Family Tree DNA’s Family Finder – Part I“).  The Family Finder test uses a whole-genome SNP scan to find stretches of DNA shared by two individuals, thus identifying your genetic cousins (and will soon include the Population Finder analysis of admixture percentages).  I currently have over 33 genetic cousins in Family Finder, and I’m working with them to identify our common ancestor(s).

The Affymetrix microarray chip used by FTDNA includes over 500,000 pairs of SNPs located on the X chromosome and the autosomes (no Y chromosome SNPs).  Via SNPedia:

FamilyTreeDNA uses an Affymetrix Axiom CEU microarray chip with 3,269 SNPs removed (563,800 SNPs reported) for autosomal and X (but not Y or mitochondrial) ancestry testing for $289. Other sources have cited 548011 snps. This platform tests 1871 of the 12442 snps in SNPedia.

FTDNA states that the Family Finder test is not intended to be medical.  From the FTDNA FAQ:

Question: Is the Family Finder test medical?

Answer: No, it is not.

This is entirely accurate of course; FTDNA does not analyze the test results for health, traits, or other medically-relevant information, and does not provide the user with any medical information or analysis tools that might reveal medical information.

However, when DNA is involved there is almost never any such thing as a completely non-medical test.  It’s often impossible, at any given point in time, to know which of an individual’s SNPs might be affiliated – remotely or closely – with a medical state or condition.  Ann Turner recently wrote the following at the Rootsweb GENEALOGY-DNA mailing list in response to another individual’s question:

Question:  “I am wondering if FTDNA really left out the genes and just lists the intergenic areas?”  Answer:  “No, the claim was that they scrubbed medically significant SNPs.  They still include over 1600 SNPs with entries in SNPedia, which would have some phenotype implications, according to an analysis posted at DNA-Forums: http://tinyurl.com/27slbj8.”

Indeed, as of August 3rd, 2010, there are 12,442 SNPs in SNPedia, of which a total of 1,871 are tested by Family Tree DNA’s Family Finder test.

Promethease Analysis

I was curious as to what information my Family Finder results might contain, so I ran my results through Promethease, a free software tool used to analyze whole-genome SNP scan results.  From the Promethease website:

“Promethease is a tool to build a report based on SNPedia [an impressive database of annotated SNPs] and a file of genotypes [i.e., your Family Finder results]. Customers of testing services (23andMe, deCODEme, Navigenics, …) can use it to learn more about their DNA. It can also pool the data from multiple testing services. The program runs for approximately 3 hours. An optional $2 payment per run unlocks extra features and reduces runtime to approximately 5 minutes.”

Similar to several of the other autosomal SNP scan testing companies, Family Tree DNA allows the customer to download their own DNA testing results.  Autosomal results and X-chromosome results are separately downloaded as compressed files which can then be extracted for analysis.  After downloading and installing Promethease, I ran the program using just my Family Finder results (after paying the $2 for a faster runtime.  I’m impatient.).

Promethease was  indeed able to analyze my Family Finder results and returned a report that included 1881 annotated genotypes. Here, for example, is a screenshot from my results (click to embiggen):

In addition to the “most interesting snps” category, there are categories for “medicines”, “medical conditions” (below), and others.  After clicking on “more” for each category, I receive more information about those annotated SNPs.  To get an idea of what the full results look like, there are a number of people who have shared their real promethease reports.

Promethease also lets you upload your results from different companies, so I also analyzed my Family Finder results together with the results of my 23andMe test.  Since there isn’t much overlap between the SNPs in the FTDNA test and the SNPs in the 23andMe test (see this ISOGG Wiki page for more information about FTDNA’s testing versus 23andMe’s testing, for example), I was able to extract information about 7691 of my personal genotypes using the SNPedia database (compared to 1881 genotypes with my Family Finder results alone).  Thus it appears that the 23andMe results are more likely to contain SNPs that are annotated in SNPedia.  This isn’t surprising considering that, according to reports, FTDNA designed their chip to contain fewer annotated SNPs.

My Results

Since I have taken whole-genome tests before and was familiar with both testing and the interpretation of results, my report was not surprising.  Indeed, I was already aware of my increased risk of type-2 diabetes (see Personalized Genomics: A Very Personal Post ), as well as the fact that I’m “probably light-skinned” (see e.g., my bathroom mirror).  However, it might not be clear to those taking these tests that the results contain a large amount of medically-relevant information.  This can be problematic when considering the fact that Family Finder test-takers might share or reveal their data with other people.  Indeed, even knowledge that you share a region of DNA with another person can reveal medically-relevant information that the two people share in that region.

On the other hand, this ability to apply Family Finder results to information in SNPedia will be of great interest to a number of test-takers who are interested in this type of genetic analysis.  This type of “do-it-yourself biology” is becoming more and more popular everyday.  Although there is still much debate regarding the utility of such information, exploring one’s genome can be highly interesting, informative, and interesting (and, to date, no one has adequately shown that exploring one’s genetic data is harmful for anything other than a tiny minority of people).

Conclusions

In conclusion, it is important for consumers to realize that ALL genomic information has the potential to reveal medically-relevant information (even Y-DNA and mtDNA results can include health information, for example).  By no means, however, am I suggesting that people should forgo whole-genome SNP scans, or that governmental regulation is needed.  Instead, I think it is vital that consumers understand the testing process and possible outcomes before testing, and I fully believe that it is the consumer, not the government, who should decided whether the consumer should or can undergo testing.

Indeed, rather than expend thousands of dollars in hearings, [faulty] investigations, and regulation, the government could use that money to fund programs that educate the population about genetics and DTC testing.  After all, we are entering a future that will involve our personal genomes in many aspects of our lives.

I’m interested to hear your thoughts on this subject, so please feel free to leave a comment below.

(Disclaimer: Please note that I received my Family Finder test without charge from Family Tree DNA for purposes of this review.  Regardless, I have attempted to review this product as honestly and as objectively as possible in order to provide valuable information about Family Finder to my readers.  I am also a consultant for Pathway Genomics.)

Mary Carmichael, a science editor for Newsweek, is in the midst of a week-long dilemma.  This Friday, after reading a series of articles written by members of the DTC genetic testing community, she will decide whether she should purchase a genome-wide SNP analysis.  Although the decision might be a simple one for some, in light of the recent critique of DTC genetic testing in the media, in the literature, and by the government, it is certainly understandable that Mary is looking for further insight into her decision.

Today, Mary is asking “What Can I Learn From At-Home DNA Tests?” and has gathered answers to her question from a wide variety of writers and scientists, including myself.  Since the Newsweek site only has space for a brief introduction to each topic, this post is meant to be a more in-depth answer what Mary could learn about her ancestry from a DTC test.

Genome-wide SNP scans explore a test-taker’s autosomal DNA, the 22 pair of non-sex chromosomes found inside the nucleus of each of our cells (although some tests examine the sex chromosomes as well as the mtDNA).  Rather than sequence the entire genome, an endeavor that is still too expensive for the average consumer, genome-wide SNP scans analyze roughly 600,000 locations in the human genome.

Using the results of a SNP scan, testing companies offer an array of educational and/or recreational analyses that offer exciting and informative insight into ancestry, medical propensities, and phenotypic traits such as eye color.  However, these tests are not without certain concerns and limitations.

To help Mary – and perhaps you – make an informed decision about whether to purchase a genome-wide SNP test, we will explore several of the most important benefits and limitations of the ancestral side of autosomal DNA testing.

Explore Your Genetic Tree

One of the most important – and confusing – concepts that people who are new to autosomal testing encounter is the fact that everyone has both a Genetic Tree and a Genealogical Tree.  Your genealogical tree includes every one of your ancestors throughout history.  Your genetic tree, however, only includes those ancestors who were lucky enough to contribute DNA to your genome.

Your parents are absolutely in your genetic tree, as are your grandparents and great-grandparents.  Go back a few more generations, however, and your genealogical ancestors start disappearing from your genetic tree.  Thus, your genetic tree is actually a tiny subset of your genealogical tree.  Further, while a genealogical tree remains constant (an ancestor will always be in a particular genealogical tree), a genetic tree changes with every new generation (that is, some ancestors will fall off the genetic tree with each new generation).

I recently posed the following hypothetical questions regarding the genealogical tree vs. genetic tree issue:

“At 10 generations, I have approximately 1024 ancestors (although I know there is some overlap). How many of these ancestors are part of my Genetic Tree? Is it a very small number? A surprisingly large number?”

“What percentage, on average, of an individual’s genealogical tree at X generations is part of their genetic tree?”

Luke Jostins at Genetic Inference kindly looked into my questions and offered some helpful and creative insight. Using a statistical analysis that he based on data from a recent study, Luke concluded that. based on his data, on average only about 120 of our 1024 genealogical ancestors at 10 generations (or 11.7%) are our genetic ancestors.  Luke also concluded that:

“The probability of having DNA from all of your genealogical ancestors at a particular generation becomes vanishingly small very rapidly; there is a 99.6% chance that you will have DNA from all of your 16 great-great grandparents, only a 54% [chance] of sharing DNA with all 32 of your G-G-G grandparents, and a 0.01% chance for your 64 G-G-G-G grandparents. You only have to go back 5 generations for genealogical relatives to start dropping off your DNA tree.”

So what does this mean for Mary?  It means that it is important for her to note that her autosomal ancestry testing results will only apply to her genetic tree, not to her entire genealogical tree.  With this limitation in mind, we can explore some of the analyses offered by most autosomal ancestry testing companies.

Discover Your Ancient Ancestry

Genome-wide SNP scans often explore the test-taker’s Y-chromosome and mitochondrial DNA (or “mtDNA”).  The Y-chromosome is passed down from a father to only his sons, so only males possess a Y-chromosome.  The mtDNA, however, is passed down from a mother to her children, so everyone has mtDNA.

(Image Courtesy of Wapondaponda)

SNP testing has been used for well over 30 years to classify Y-chromosomes and mtDNA into discrete but related groups called ‘haplogroups.’  For example, all humans on Earth are maternally descended (i.e. through our mother’s mother’s mother’s mother…and so on) from Mitochondrial Eve, a woman who is believed to have lived about 200,000 years ago in Africa.  Mitochondrial Eve passed on her mtDNA to all humans who are alive today.  However, in the intervening 200,000 years, her mtDNA has repeatedly branched off into different haplogroups through the accumulation of SNP mutations.  Thus, through analysis of a few SNPs on the mtDNA genome, an individual’s mtDNA can be classified into a particular haplogroup.  And, since research has shown that particular SNP mutations arose in certain areas at certain times, it is often possible to assign the haplogroup – and thus the test-taker’s ancient ancestry – to a broad geographic location.

Similarly, all humans on Earth are paternally descended (i.e. through our father’s father’s father’s father’s father…and so on) from Y-chromosomal Adam, a man who is believed to have lived about 80,000 years ago in Africa.  Just like mtDNA, Y-chromosomes have accumulated SNP mutations that allow scientists to group them into haplogroups and broadly estimate the time and place in which the mutation arose.

SNP testing of my own mtDNA haplogroup, for instance, has shown that it belongs to haplogroup A2 which is most often found in Native populations in the Americas.  This suggests that my mother’s mother’s mother’s…mother was Native American.

SNP testing of the Y-chromosome and mtDNA does have some limitations.  As critics often like to point out, at best Y-chromosome and mtDNA analysis only reveals information about 2 ancestors.  However, this fact typically doesn’t prevent the genetic pioneers and explorers from taking these tests, since learning about those 2 ancestors can be extremely rewarding and enjoyable.

Although Mary does not have a Y-chromosome, her genome-wide SNP scan will include an analysis of her ancient maternal ancestry using her mtDNA.

Reveal Your Genetic Admixture

One of the most exciting products offered by autosomal ancestry testing companies is the admixture analysis.  This analysis examines segments of the autosomal DNA and determines for each segment whether it was likely to have been inherited from ancestors in Africa, Asia (including Native Americans), or Europe (and sometimes sub-populations in those regions, depending on the test).  For example, my 23andMe test suggested that I am 97.89% European, 1.84% Asian, and 0.27% African, as shown in my 23andMe Ancestry Painting:

So do these results mean that exactly 97.89% of my genetic ancestors were European, and that 1.84% were Asian?  Not really.  An individual’s admixture results can differ from company to company based on which SNPs are used for analysis, which reference populations are used for analysis, and which algorithm is used for the analysis.  For example, my deCODEme admixture analysis (also based on my 23andMe results) suggested that I am in fact 87% European, 9% European, and 4% African.

While the exact percentages can vary, the admixture test results provide the test-taker with an important and previously unavailable glimpse into their genetic heritage.  For example, my results unexpectedly revealed African ancestry, which in hindsight this makes perfect sense considering that I likely have Garifuna/Caracol ancestry from the island of Roatan.  As my own results show, the genome can hold long-forgotten information about your personal heritage that can be uncovered and explored for the first time in hundreds of years.

So what does this mean for Mary?  On the one hand, it means that with the purchase of a test she can receive her own admixture results and explore her genetic heritage, thereby possibly uncovering long-hidden ancestry.  On the other hand, it means that: (i) her admixture results will not be absolutes, and that they might change if new SNPs, data, or algorithms are used; and (ii) she should be prepared for the possibility of unexpected results.  In my own experience, however, I’ve found that many consumers are fascinated by unexpected results.

Identify Genetic Cousins

Another primary driver of the autosomal ancestry market is the ability of test-takers to identify and connect with genetic cousins, both close and distant.

Again, however, the dichotomy of the genealogical tree versus the genetic tree is important.  It’s important to note that everyone of us have both genealogical cousins to whom we are related because we share a common ancestor with them, and genetic cousins to whom we are related because we both inherited DNA from a common ancestor.  While a cousin can be both genealogical and genetic, often they will only be one or the other.

The genetic ancestry market has developed specific tools that allow consumers to identify and connect with genetic cousins.  23andMe offers Relative Finder, a service that looks for segments of DNA that a customer shares with other 23andMe customers.  If two people in the 23andMe database share a segment of DNA, this suggests that they share a common ancestor.  The amount of shared DNA, which is reported by the companies, can suggest how recent their common ancestor was.  Thus, in addition to identifying genetic cousins these products offer a suggested relationship range for the cousins.  Similar to 23andMe’s Relative Finder, Family Tree DNA offers a product called Family Finder which compares segments of the test-taker’s DNA to DNA in the Family Finder database.

Once a match is discovered, the genetic cousins can share their genealogical trees as well as their suggested relationship in order to identify an overlap in their trees.  That overlap is potentially the common ancestor from whom they inherited the same stretch of DNA, and thus this ancestor is located in their genetic trees.

For example, I’ve discovered a relative in Family Finder with whom I share at least 12 ancestors in the past 200-400 years.  Many other customers report success finding a single shared ancestor with their genetic cousins.  Identifying a shared genetic ancestor, together with the segment of shared DNA from that ancestor, allows genetic cousins to trace the path of the shared segment through both time and space from that ancestor to themselves.

A genome-wide SNP scan, therefore, will potentially allow Mary to track segments of her genome through both time and space!

Possibly Reveal Medical Information

In addition to ancestral information, most autosomal DNA testing companies offer some type of analysis regarding physical traits and medical propensities.  Other companies offer limited tests that look at only ancestry or only medical information.  Regardless of the type of test purchased, it is important to note that it is almost impossible to separate medically-relevant DNA from ancestrally-relevant DNA.

Although a SNP or short stretch of DNA used for ancestral analysis may not currently harbor any known data regarding physical traits or health information, a paper could be published the very next day which shows that the same bit of DNA actually reveals one’s propensity for a certain medical condition.  As a result, sharing raw DNA data with another individual – even if that data is only believed to reveal ancestral information – can potentially reveal medical information.

What does this mean for Mary?  Education is always the best method of preparation.  Knowing that raw data can reveal medical information, Mary will be aware of the possibilities and can use that information to decide the level of sharing she is most comfortable with.

Do-It-Yourself Biology

In addition to the myriad tools offered by DTC genetic ancestry testing companies, the ability to download raw data gives users the ability to explore their ancestry and genome in other ways.  Several members of the DTC genetic testing community and the genetic genealogy community have created novel tools for further analysis of DTC test results.

David Pike, for example, has created a suite of tools for analyzing raw data from 23andMe and/or FTDNA, including the following:

• Analysing FamilyFinder and/or 23andMe Raw Data for Runs of Homozygosity
• Analysing FamilyFinder and/or 23andMe Raw Data for Heterozygous Sequences
• Comparing Two Raw Data Files from FamilyFinder and/or 23andMe
• Inspecting a Shared DNA Strand in Two Raw Data Files from FamilyFinder and/or 23andMe
• Inspecting Shared DNA Strands in a Trio of Raw Data Files from FamilyFinder and/or 23andMe
• Searching for Mutated SNPs in Parent-Child Raw Data Files from FamilyFinder and/or 23andMe
• Searching for Differently Reported SNPs in Raw Data Files from FamilyFinder and/or 23andMe

Dienekes Pontikos of Dienekes’ Anthropology Blog created Euro DNA Calc, which uses 23andMe or deCODEme data to calculate the probability that an individual is Northwest European, Southeast European or Ashkenazi Jewish.

Promethease is a free utility that uses the SNPedia database to generate a report about medical information and traits.  It uses raw data from most of the major testing services and can even pool data from multiple testing services.

Adriano Squecco maintains the Y-Chromosome Genome Comparison database, which is a spreadsheet of raw Y-DNA results from male 23andme customers.  The data is being used to identify new SNPs for Y-DNA testing.

Dr. Doug McDonald performs a BGA Analysis, which analyzes raw data to determine global similarity and admixture percentages.

These tools offer analysis beyond what testing companies currently offer, allowing the user to be an early explorer in this area.

Conclusions

Through autosomal DNA testing, Mary can learn about her genetic heritage and connect with long-lost genetic cousins to explore her genetic family tree.  Further, Mary can use her results in novel do-it-yourself ways using tools developed by the DTC genetic testing community.  By being cognizant of the privacy issues and limitations known to be associated with genetic ancestry testing, Mary can also make informed interpretations of her data and decide with whom she will share her results.

(Potential Biases:  Although I don’t have a direct financial stake in the success of DTC companies, I have performed consulting work for Pathway Genomics, a DTC genetic testing company, and have received a  complementary SNP scan from 23andMe and Family Tree DNA for reviews here on the blog.  I am opposed to any unreasonable or paternalistic regulatory barrier to our genetic information, but I also believe that potential test-takers should perform their own research and investigation into genetic testing in order to understand the benefits and limitations of these tests prior to purchasing a test.)

Since late 2007, several “direct-to-consumer” or “DTC” genetic testing products have entered the marketplace, many of which offered some degree of autosomal ancestry analysis (including 23andMe, deCODEme, and Pathway Genomics, among others).

In early 2010, genetic ancestry testing company Family Tree DNA announced that it would begin offering a new genetic genealogy product (see “Announcing Family Finder – An Autosomal Test From Family Tree DNA”).  The new product, called “Family Finder,” is one of only a very few autosomal genetic genealogy tests available to consumers.

The Family Finder test uses an Affymetrix microarray chip that includes over 500,000 pairs of locations called single nucleotide polymorphisms (SNPs) in your autosomal DNA.  Once the SNPs are analyzed, FTDNA detects linked blocks of DNA that indicate a common ancestor.  The number and size of these linked blocks is used to determine how recently or closely two people are related.  From the Family Finder FAQ page:

“The Family Finder test works by comparing your autosomal DNA to that of other people in our database who have taken the test. Your relationship with a match is calculated based on sharing linked segments of DNA. Although any two people from the same population may have some of their DNA in common, as a matching segment of DNA becomes longer and you share more segments, it becomes more likely that the sharing is due to a recent common ancestor than a chance match.”

Thus, the results of the Family Finder test are used to find stretches of DNA shared by two individuals, to identify your “genetic cousins” (as compared with “genealogical cousins,” who you may or may not share DNA with).

The Family Finder landing page is packed with information, including videos and information about the potential uses of the product:

“We place you in control. When you take the Family Finder test, your results are compared against our Family Finder database. Your list of matches is designed to be quickly sorted to allow you to focus on your near or distant cousins. Because email addresses are provided for easy communication with your near or distant cousins you will be able to share research easily. We notify you by email when you have new matches. Your raw data file is freely available for download.”

Frequently Asked Questions Page

The Family Finder FAQ page is especially well-developed for such an early stage product.  There are currently over 75 FAQs including a wide range of questions and answers, including the following:

Question: What is the probability that my relative and I share enough DNA to be detected by Family Finder?

Answer: If you are related within five generations (3^rd or more recent cousins) then Family Finder is almost sure to detect your relationship. Testing will also detect many 4^th and 5^th cousins and a small percentage of more distant cousins.  Chances of finding a match if the relationship is:

Connecting with Cousins:

Unlike 23andMe’s Relative Finder, where communicating with genetic relatives in their database can be challenging (although 23andMe is launching improvements to the system that will make identifying and communicating with relatives easier), this product is intended for and marketed to genealogists.   The results are provided using the following format (picture courtesy of the ISOGG wiki Family Finder page, image has been altered for privacy reasons):

The results provide information about the identified genetic cousin, including the suggested relationship, the predicted relationship range, the shared cM (centimorgans), the longest block of shared DNA, and the ancestral surnames that the user has provided in their profile (if any).  Also provided is a link to the user’s email address to facilitate communication.

As a result, there are several privacy issues involved in the Family Finder test that test-takers should be aware of.  It is important to recognize that your name and the email address you sign up with will be made available to your genetic relatives.  For most genealogists this is a welcome development, but it is worth highlighting.  Additionally, if you share closely-matching DNA with an individual, that individual will see your name in their results and can share that information with other people.  Although ethically all test-takers should always keep these privacy issues in mind, there is nothing to prevent them from sharing the information.  Please be informed before you order this test.

Chromosome Browser:

Family Finder also provides a Chromosome Browser which test-takers can use to explore and compare the blocks of DNA that they share with genetic cousins.  Users can compare the blocks of up to 3 people, and can filter blocks from 10+ cM, 5+ cM, 3+ cM, down to 1+ cM.  Users can also view the comparison information in a table and download it to an Excel file.

Download of Results

Like 23andMe, Family Tree DNA offers customers the ability to download the results of the SNP test.  The autosomal results and X-chromosome results are offered in separate zipped files.

My Results:

I currently have 33 genetic relatives in the Family Finder database with the following break-down:

• Only one person with a suggested relationship (my closest relative in the database), suggested at the 4th cousin stage, with a range of 3rd to 5th cousin;
• Eight cousins at the 4th cousin to distant cousin stage; and
• 24 cousins at the 5th cousin to distant cousin stage.

I am communicating with my matches in order to identify a shared ancestor in our respective trees.   In the one instance where we’ve identified shared ancestry, we share relatives in a minimum of twelve different lines (via the early colonial era).  I’ve also matched several relatives from an isolated geographic region where I have confirmed recent ancestors, although we have not yet identified a common ancestor.

Future Developments

Ancestral Percentages

At the current time, the Family Finder test results do not include information about possible ethnicity or biogeographical ancestry.  However, it appears that Family Tree DNA plans to offer this type of information in the future.  See, for example, “Relative Finder vs. Family Finder” at The Melungeon Historical Society blog.  There Roberta Estes writes the following:

“Family Tree DNA does not initially offer the percentages of ethnicity, but that will be added shortly. The 23andMe ethnicity percentages (European, African and Asian) are very, very conservative and I believe so conservative as to be significantly incorrect. Suffice it to say that I have been involved with the new ethnicity percentage information and presentation at Family Tree DNA, and it will blow the socks off of anything out there today.”

23andMe Results at FTDNA

What if you’ve already tested at 23andMe?  Once again, Roberta Estes writes the following (which includes information I’ve seen at several other places):

Family Tree DNA will (shortly) facilitate an upload of 23andMe raw data for a $40 and they will then compare the 180,000 (280,000 by inference) common locations between their data base participants and your 23andMe data. If you later decide to take the Family Finder FtDNA test, they will credit your $40 to that test. Only the people who ordered the full health traits and ancestry version of the 23andMe product can gain access to their raw data at 23andme. Everyone who participated in the beta can download their raw data.”

Experiences and More Information:

Family Finder Links:

• Worldfamilies.net has a Family Finder page with information about the product.
• Kimberly’s Genealogy Blog writes “FamilyTreeDNA vs. 23andme – A First Look”
• The Family Finder page at the ISOGG wiki (a great new resource, by the way)
• The FamilyTreeDNA page at SNPedia

Conclusions

I first had part of my genome sequenced over 7 years ago via an AncestryByDNA test.  Since then I’ve had mtDNA sequencing, Y-DNA sequencing, SNP scans, and a number of other tests performed.  Accordingly, I consider myself to be an early explorer in the field of DTC genetic testing.  I enjoy learning about my genetic ancestry, about genetic cousins, and about my own genome.  Many of the other early adopters of the Family Finder test are also pioneers.  I would recommend this test to anyone who is interested in their genetic ancestry, or anyone that is interested in learning more about their own genetic heritage.

One of the best things about the Family Finder test is that it gives the user information and then allows them to use that information as they so choose.  Although the test does reveal your name and email address to genetic relatives, it is up to you whether you reply to requests or explore those relationships.  Family Finder is yet another tool that allows personal genome explorers to learn about themselves.

Have you used FTDNA’s Family Finder test?  I’d love to hear about your experiences in the comments section.

More Soon…

Stay tuned, in the next week or so I’ll be posting more of my review of Family Tree DNA’s Family Finder, including some advanced tools for Family Finder and/or 23andMe users .

Disclosures

I received my Family Finder test without charge from Family Tree DNA for purposes of this review.  Regardless, I have attempted to review this product as honestly and as objectively as possible in order to provide valuable information about Family Finder to my readers.  I am also a consultant for Pathway Genomics.

On May 6, 2010, the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany presented the world with a draft of the genome sequence of the Neanderthal (press release here (pdf) and full article here (free), NYT article here).  As part of the announcement, the team presented their conclusion that 1% to 4% of the genome of non-Africans is derived from Neanderthals:

“An initial comparison of the two sequences has brought some exciting discoveries to light. Contrary to the assumption of many researchers, it would appear that some Neandertals and early modern humans interbred. According to the researchers’ calculations, between one and four percent of the DNA of many humans living today originate from the Neandertal. ‘Those of us who live outside Africa carry a little Neandertal DNA in us,’ says Svante Pääbo.  Previous tests carried out on the DNA of Neandertal mitochondria, which represents just a tiny part of the whole genome, had not found any evidence of such interbreeding or ‘admixture.’”

Once this study came out, I knew it was only a matter of time before companies began offering tests that examined the percent of Neanderthal contribution to a test-taker’s genome.

The Neanderthal Index

In May 2010, DNA Consultants began offering a test called the Neanderthal Index.  Priced at USD $90.00, the test purports to “estimate how much Neanderthal is in your ancestry.”  From the test description:

“Created in response to the phenomenal interest generated by the revelation in scientific journals on May 8, 2010 that most humans are part Neanderthal (Green et al), our autosomal DNA Neanderthal Index can be added to your DNA Fingerprint Test or DNA Fingerprint Plus. It reports any strong matches you have with populations identified as Archaic, those preserving the earliest earmarks of interbreeding between Neanderthals and humans (Homo sapiens sapiens). The stronger the match the higher the likelihood that your ancestors gave you Neanderthal genes.”

The site also provides an FAQ page, and a sample test result (pdf).  The test returns results on a scale of 0.1 to 5.0, but it is unclear if this is meant to be a percentage.

It is vital to understand that this test does NOT test SNPs.  Instead, it uses CODIS markers to estimate whether a test-taker’s results are likely to be found in “archaic populations,” which themselves are hypothesized to be more likely to possess Neanderthal DNA (i.e., “relatively little genetic inflow.”).  The list of archaic populations is found in the FAQ, and includes many Middle Eastern and worldwide indigenous populations.  From the test description:

“Note that this test does not directly examine your genetic material. Only a large-scale genomic sequencing procedure like the Human Genome Project or Draft Neanderthal Genome can do that. The Neanderthal Index is based on probabilistic predictions of the occurrence of your unique DNA Fingerprint in Archaic Populations retaining Neanderthal genomics and traits.”

While the website does a good job of explaining that it does not identify any specific “Neanderthal SNPs” but rather makes a incredibly rough probabilistic estimate based on the Science paper, it is important to fully understand the many limitations of this test.

DIY Genomics

Meanwhile, over at 23andMe, several test-takers refuse to wait for commercial companies to offer Neanderthal-specific testing.  In addition to asking in the 23andMe forums when the Ancestry Painting will include the percentage of Neanderthal DNA, others have proposed several so-called “Neanderthal SNPs” based on research published in other recent papers.  These SNPs include rs1864325 (forum discussion here) and rs930557 (forum discussion here).   This collaborative effort by 23andMe’s test-takers is just one of the many reasons that personal genomics and affordable sequencing are so exciting.

Although the science behind these Neanderthal SNPs is only in its infancy and should only be taken with an enormous grain of salt at this stage, there will be more of these types of studies in the future to provide companies and pioneers with new data to explore.  And we, the personal genome pioneers, will get to learn and explore as these developments unfold.

Conclusions

While there aren’t yet any commercially-available tests that examine your genome for evidence of Neanderthal contribution, there will undoubtedly be such tests in the next few years, especially as further drafts of the Neanderthal genome are released.

Doctor Radio

I was recently asked to participate in a discussion with Dr. Deb Neklason, Ph.D on the satellite radio channel “Doctor Radio,” hosted by Dr. Ira Breite.  We largely spoke about a 2008 study, led by Dr. Neklason (who I thought did a wonderful job of explaining the science and results in layman’s terms during the show), in which it was concluded that a gene that often causes cancer traces back to a Mr. and Mrs. George Fry who came to America in 1630.  I have a write-up of the study here (http://www.thegeneticgenealogist.com/2008/01/03/a-single-colon-cancer-gene-traced-to-1630-the-future-of-genetic-genealogy/).  There was also some brief discussion of mtDNA testing and the future of personal genomics.

Here is Dr. Breite’s description of this morning’s show:

“Colon Cancer is extremely common in the United States: it is the number two cancer killer of both men and women. Some families have a mutation which makes relatives who have it have an even higher risk than the general population. Now it turns out that this gene may have literally come over, if not with the Mayflower, then pretty darn close to that! Join me and Dr. Deb Neklason, Ph.D and Dr. Blaine Bettinger as we talk about how a single mutation in a single gene in a single person from 1630 has led to thousands of colon cancer cases today.”

For new visitors from the show looking for more information, feel free to browse the archives and featured articles here at The Genetic Genealogist.

Genomes Unzipped

I’m excited to announce the launch of a new personal genomics blog called “Genomes Unzipped.”  It’s authored by some of the best and brightest bloggers (and non-bloggers) in this area, including:

• Genetic Future‘s Daniel MacArthur
• Genomics Law Report‘s Dan Vorhaus
• Genetic Inference‘s Luke Jostins
• PHG Foundation‘s Caroline Wright and
• Saaien Tist‘s Jan Aerts, among others.

The blog (although it sounds like this will be much more than a blog!) promises the following:

Welcome to Genomes Unzipped, a new group blog bringing together experts in the scientific, legal, ethical and commercial aspects of genetics. Our goal is to provide you with independent analysis of advances in the field of genetics, with a particular focus on implications for the budding industry of personal genomics. We’ll also be discussing ways in which you can make the most of your own genetic data using online resources and techniques developed by researchers.

If you’re interested in genetic genealogy and/or personal genomics, I highly recommend subscribing to this blog (here) and their Twitter account (@genomesunzipped).  Also, look for a “major announcement” on the blog in the near future laying out some future plans for the group.

I wish everyone at Genomes Unzipped the best of luck, and I look forward to reading!

Today at noon, the American Society of Human Genetics lifted an embargo on “Inferring Genetic Ancestry: Opportunities, Challenges, and Implications (pdf),” which will be published in the May 14^th issue of the American Journal of Human Genetics.

This paper is a follow-up to a 2008 paper called the “ASHG Ancestry Testing Statement and Recommendations” in which a committee from the ASHG addressed concerns about the claims made by genetic ancestry testing companies.  I wrote an article here on the blog at the time – The ASHG Ancestry Testing Statement and Recommendations – that highlighted a number of concerns I had about the statement and the recommendations.

When I wrote the November 13, 2008 blog post, I began by pointing out my personal positions, which have largely remained unchanged in the intervening 1.5 years:

• After years of experience in this field, I am a proponent of genetic genealogy testing, a scientific endeavor that has been utilized by more than 800,000 customers.

• I believe that education, not more government regulation, is the most efficient and appropriate answer to the issues raised by the authors of the paper.

• I believe that autosomal genetic genealogy testing is in its infancy and should only be used with the understanding that the results are only extremely rough estimates that are subject to change as the field develops.

The 2010 paper begins with a brief introduction and a table of most of the companies currently offering genetic ancestry tests.  The paper also discusses many of the issues associated with genetic ancestry tests, including: (i) the differing definitions of ancestry [of which there are many]; (ii) the tools for inferring ancestry; (iii) accuracy of those inferences; and (iv) ancestry and health, among several other things.

Overall, as discussed in great detail below, the authors have done an excellent job of addressing the concerns I raised in my review of their 2008 paper, which I felt was a much poorer review of the field (see below where I’ve compared my concerns from 2008 to the 2010 paper).

The 2010 paper ends with the following two recommendations:

• “Leadership of the human-genetics community, diverse in its interests and its own identities, should develop mechanisms for promoting thoughtful and rigorous use of genetic ancestry estimation in academic research.”

• “Interested scientific and scholarly societies should collaborate to convene a national roundtable discussion of DTC genetic ancestry testing.”

Interestingly, the second recommendation is similar to the one that I made after reviewing the ASHG’s 2008 paper when I stated that “I hope that the Task Force is actively conversing with people outside the committee, including commercial testing entities, researchers, and customers of genetic genealogy in order to obtain a well-rounded view of the field.”

Additionally, the 2010 paper specifically offers an “alternative approach” to federal regulation of genetic ancestry testing (something that I have often and repeatedly stated my disagreement with):

• “Recently, Lee and colleagues called for federal regulation of genetic ancestry testing.  At this juncture, we offer an alternate approach, one that might itself lead to federal oversight, if subsequently deemed appropriate, necessary, or practical.  We believe that effective decision making regarding genetic ancestry inference, in particular DTC genetic ancestry testing, will be best initiated through cooperative interaction among a variety of stakeholders, including suitable federal agencies.  Considering that such collective engagement has not yet occurred, it is premature to assume reticence or resistance on the part of any of the players or that federal regulation is the only recourse.”

I thought it might be an interesting exercise to determine whether the new paper addressed the concerns I raised after reading the 2008 paper.

General Concerns:

• The 2008 Paper – In 2008, I wrote that “[t]here are statements in the paper about psychological reactions to testing results, including the conclusion that ‘[t]he occurrence of or potential for emotional distress in people and groups following receipt of conflicting information about their ancestry has been well documented.’  Unfortunately, the statements are based on anecdotal stories or isolated examples rather than any systematic or scientific investigation of the reactions of individuals to the results of genetic genealogy testing.  I am unaware of any systematic objective study that looks at the reactions of individual to genetic genealogy testing results (outside of the paternity test or health testing arenas).  Indeed, a prior policy paper from the ASHG cites only a BBC documentary that examined the ancestry of three individuals of African descent and a newspaper article to support their conclusion that “[t]est-takers may…suffer emotional distress if test results are unexpected or undesired.”  I would suggest that the Task Force, rather than assume that this “emotional distress” response to genetic genealogy test results has been well documented, conduct an objective study specifically tailored to analyze genetic genealogy testing. The difference between the results of genetic genealogy testing and the results of health or medical testing is so vast that drawing comparisons between the two is extremely problematic and potentially inaccurate.

• • The 2010 Paper – The new paper states that “Knowledge about genetic ancestry, particularly if undesirable and unexpected, can lead to the reshaping of group, familial, or personal identity (cites omitted)…The occurrence of, or potential for, emotional distress in people, families and groups after receipt of conflicting information about their identity through DTC ancestry testing has also been discussed [cites omitted]. Nonetheless, some research focused on consumers of ancestry testing has revealed that although ancestry tests might promote genetic thinking about ancestry and ‘‘race,’’ test takers also were able to construct meaningful narratives of their identity. [citing to Alondra Nelson’s article; see Article Review: “Bio Science: Genetic Genealogy Testing and the Pursuit of African Ancestry”].  Clearly, additional empirical research will need to adequately explore the relationship between genetic ancestry testing and the identities and overall psychological well-being of test takers, their families, and their communities.”

• • Thus, the 2010 statement clearly weakened the stance of negative perceptions from “well-documented” to “has been discussed,” and cites Dr. Nelson’s very interesting research, which suggests that test takers interpret results to meld with their preconceived identity.  The section ends by suggesting that more research is needed, which I suggested in my 2008 review.

• The 2008 Paper – In 2008, I wrote that “[t]he paper muddles the distinction between Y-DNA/mtDNA testing and autosomal testing, even though the differences are huge.  The results of Y-DNA and mtDNA tests are STR numbers, SNP designations, or differences from the CRS which are then used to estimate a haplogroup or compare with another’s results.  Given the extensive data regarding haplogroup designation, the estimates are highly accurate.  Additionally, a haplogroup designation implies only a very broad geographical origin many thousands of years ago; it is not an estimation of genetic ancestry, as the authors of the policy paper imply.  Haplogroup designations have existed for more than 20 years and continue to be used by population geneticists and anthropologists.  The results of autosomal testing, however, are estimations of genetic ancestry.  These autosomal tests look at anywhere from 13 to 500,000 locations – out of billions – on the human genome and return percentages of ancestry based on those markers.  Autosomal testing can be confusing to test-takers because customer often assumes that the percentages are final and represent an accurate picture of their entire genome.”

• • The 2010 Paper – The 2010 statement more clearly breaks up the analysis into the very different fields of “mtDNA and Y Chromosome Markers” and “Autosomal Variants” in one section, and “Lineage Identification with Uniparental Markers” and “Admixture Estimation” in another.

• The 2008 Paper – In 2008, I wrote that “[t]he authors mix the issues associated with the everyday genetic genealogy test-taker with the issues faced by very specific groups of test-takers.  For example, Native American groups are concerned about the effects that genetic genealogy will have on group identity and membership.  These same concerns have also been raised by lineage societies such as the SAR and the Mayflower Society.  Any regulations that a group believes it needs should be at the level of the group, not at the level of the testing! Groups that have these concerns should themselves decide whether and how to use genetic genealogy results for membership and group identity (such as the DAR and Mayflower Society are doing); regulating genetic genealogy at the testing level is not the most efficient or appropriate way for these groups resolve the ethical and social concerns.”

• • The 2010 Paper – The 2010 statement has a section on page 10 that addresses this issue.  It states that “[r]eports of the use (or intended use) of ancestry test results to make claims for benefits through affirmative action or for rights perceived to be associated with their new-found Native American status have increased unease over the loss or gain of certain rights or entitlements,” but reasonably notes that “It remains to be seen what tangible effects (if any) genetic ancestry inference will have on these pre-existing entitlement issues.”  Here, again, the ASHG has addressed my concerns.

• The 2008 Paper – In 2008, I wrote that “[t]here is mixing of the controversial phrase “direct-to-consumer” with genetic genealogy.  Of course it’s direct-to-consumer, who else would the results go to?  Surely the authors of the paper aren’t suggesting that genetic genealogy tests should be ordered and reviewed by a doctor or genetic counselor.  That would be a ridiculous restriction.”

• • The 2010 Paper – The 2010 statement still uses the term DTC, but I think in the last 1.5 years the use of the term in general has been to indicate that the testing is done without the use of a doctor or counselor rather than to suggest that a doctor or counselor should be involved.

• The 2008 Paper – In 2008, I wrote that “[a]lthough I am unaware of the composition of the ASHG Task Force, I hope that it is made up of a diverse group. Additionally, I hope that the Task Force is actively conversing with people outside the committee, including commercial testing entities, researchers, and customers of genetic genealogy in order to obtain a well-rounded view of the field.”

• • The 2010 Paper – The 2010 statement, very much in line with my 2008 recommendation, concludes with the recommendation that there be a “face-to-face conversation among ancestry-testing companies and promoters, consumers, community leaders, advocacy and interest groups, geneticists, social and behavioral scientists, humanists, healthcare providers, legal professionals, federal agencies, media, and other key stakeholders should be to identify major issues of concern and brainstorm practical solutions.”

Thus, with this paper the ASHG appears to have addressed almost every one of the concerns and misconceptions I raised in my review of the 2008 statement and recommendation.  Actually, it’s almost uncanny.  I applaud the committee for their work and thank them for addressing these issues.  Hopefully, when the ASHG’s proposed “national roundtable discussion of DTC genetic ancestry testing” is convened, I will be able to attend.

In honor of mother’s day, I’m reposting a portion of an entry from March 16, 2009 (“Visualizing Your Genetic Genealogy“).  It also follows a SNGF from Randy at Genea-Musings called “Matrilineal Line.”

In my genealogical research, I have sometimes found myself missing the trees by focusing on the forest.  I think it happens to many genealogists – we get caught up in the research, the dates, the places, and we forget that there was so much more to people than their vital statistics.

This can happen to genetic genealogists as well.  The connection between the results of a DNA test and the individuals in our tree can be easy to forget and difficult to visualize.  Take the results of an mtDNA test, for example.  The results are obtained from a tiny piece of DNA that has traveled thousands of years (and often thousands of miles) through hundreds of individuals to end up in your cheek cells and on the tip of a swab.  Everyone’s mtDNA is the product of an amazingly rich story that has largely been lost to history.

However, we as genealogists can do our part to connect the DNA to as much of the story as possible and prevent further loss.  In your own recent past, who were the people that contributed your mtDNA, your Y-DNA, or your autosomal DNA?

Visualizing My mtDNA Line

This is a compilation of the five most recent generations of my mtDNA line over the past 125 years, as shown in photographs:

Cora’s mother was Sarah L. Bodden, born January 1846.  Sarah’s mother was Julia Ann Rebecca, of which very little information is known.  What I do know, however, is that my mtDNA Hapl0group is A2, meaning that my matrilineal line is Native American.  Thus, Julia Ann Rebecca’s mother, grandmother, or more distant maternal ancestor was Native American, most likely of Central American or Caribbean origin.

Happy Mother’s Day to all my maternal ancestors.

The following is a press release from GeneTree:

New GeneTree Services Enable Users to Make Sense of Genetic, Genealogy Information

• New GeneTree Products and Services Focus on Making Genetic, Family History Information Comprehensible and Meaningful to Users
• As a wholly owned subsidiary of Sorenson Molecular Genealogy Foundation, GeneTree is able to Leverage the World’s Most Comprehensive Collection of Correlated Genetic and Genealogical Information on Behalf of Users
• Re-Designed Web Site Includes Enhanced Content and Features

SALT LAKE CITY (March 31, 2010) – GeneTree today announced that the company has launched a new product offering of integrated genetic and genealogical services unique in the marketplace for its ability to expand users’ knowledge of their genetic and family history connections. The company also announced it has significantly revamped its Web site, www.genetree.com.

GeneTree’s comprehensive new service offering focuses on integrating two essential sources of human identity: quality genetic tests and industry-standard family history consulting services. In contrast to providers that focus exclusively on anthropological deep ancestry, GeneTree’s product and service offering is designed to help people discover near-term family connections in the last six to ten generations as well as deep ancestral connections.

The company has developed a diverse array of genetic and genealogical consultation services to provide users with a rich sense of their family trees. These services range from providing instruction and support for people who want to make sense of their own research, to comprehensive services for those who prefer that GeneTree conduct research for them. GeneTree’s highly qualified, professional genetic genealogists provide individualized assistance about users’ family trees and how DNA results can help them in their search for connections.

Genetic information informs family history efforts in two primary ways. First, it helps to ensure the accuracy of the genealogical record, by validating family connections and identifying potential errors. Second, genetic analysis expands the universe of connections available to individuals and families for whom written genealogical records have hit a dead end.

GeneTree helped Lueda Thomas of Omaha, Neb., affirm the identity of her ancestor Josiah Sims, correct inconsistencies in two pedigree charts she was studying, and expand her family tree. “I have spent seven years trying to link Josiah Sims into another pedigree chart,” said Thomas. However, there was a 10-year discrepancy between the birth dates attributed to Sims on the two respective pedigree charts, though each reported the same name.

Thomas found two potential living relatives and worked with GeneTree to obtain DNA tests for each of them. Both tests yielded a perfect match and confirmed that the Josiah Sims on both of the pedigree charts she was studying were in fact the same person. In addition, a search in GeneTree’s database revealed another perfect match, providing Thomas with a third newly discovered living family member. “I had exhausted all of my resources and knew that DNA was the only way I could find an absolute answer to this question,” said Thomas.

GeneTree offers a series of DNA tests that can be tailored to the goals of users ranging from individuals to major family history research projects. The company’s genetic testing services, certified by the National Institute of Standards and Technology (NIST), include both Y-DNA (genetic information passed from fathers to sons) and mitochondrial (mtDNA; genetic information passed from mothers to all their children). GeneTree customers can use their DNA results to verify and significantly expand their family trees.

GeneTree’s revamped Web site features a complete redesign, together with practical insight about DNA testing and genealogy. A revised shopping cart contains products and services that enable users to take advantage of the synergies between genetic and genealogical information. In addition, GeneTree’s dynamic DNAvigator online map allows users to trace the geographic connections and migration patterns of their genetic ancestral groups.

“The popularity of shows like Who Do You Think You Are? demonstrate that there is a genuine hunger for people to know who they are fundamentally-what is their genetic legacy and how they fit into the larger family history picture,” said Jeff Wells, CEO of Genetree. “GeneTree is uniquely qualified to help people answer these questions.”

GeneTree clients will also benefit from the relationship with its parent, the non-profit Sorenson Molecular Genealogy Foundation (SMGF), which has developed the world’s largest and most comprehensive collection of genetic information correlated with multi-generational genealogical family pedigrees.

“Our relationship with SMGF enables GeneTree to combine sophisticated DNA analysis with traditional genealogical research to provide our customers with the most complete picture of human identity available anywhere in the world,” said Wells. “The extensive, complementary insights GeneTree customers can obtain through this process are without parallel in making genetic and family history information understandable and useful.”

About GeneTree

GeneTree (www.genetree.com) is the leading provider of genetic and family history services that unlock people’s ancestral legacy. Powered by the world’s largest, most comprehensive repository of genetic and genealogical information, GeneTree’s best-in-class genetic testing, genetic genealogy consulting and family history research enable individuals and extended families alike to dramatically extend their family trees.

• Daniel MacArthur at Genetic Future writes “Willful ignorance is not an effective argument against personal genomics,” which is a criticism of an embarrassingly bad op-ed by Camilla Long in the Times (U.K.) entitled “When DNA means do not ask.”  In the article Long mentions several types of genetic testing including “superficial services such as ancestry tests.”  A truly uneducated statement, considering that ancestry tests are among the informative of all genetic tests!

• Like Jasia (congratulations!!), I am truly honored to be on the 15 Genealogy Blogs You Need to Read! list that Leslie Albrecht Huber wrote for the Discovering Family History magazine.  I wasn’t previously aware of this magazine, so this was a great way to get their name out.  Thank you again!!  (via the  Family Matters blog).

• Thank you to Access DNA for including The Genetic Genealogist in their list of “Top 5 Genetics/Genomics Blogs“!!  Are you reading the Access DNA blog?

• Brad Templeton at Brad Ideas writes “The odds of knowing your cousins: 23andme Part 1” and “The privacy risks of genetic genealogy (23andMe part 2),” and”Haplogroups, Haplotypes and genealogy, oh my.”  I certainly don’t agree with everything he writes (including how dismissive he is of traditional genetic genealogy, which has fueled DTC genomics for the past 1o years), but the articles are worth a quick read.

• There’s a terrific discussion in the comments to “Genetic ancestry testing: people who don’t want to know” about people who refuse to undergo genetic ancestry testing for personal reasons.  I added my own 2 cents at comment 17 trying to explain some of the most common misunderstandings surrounding autosomal DNA testing.

Randy Seaver at Genea-Musings (“I’m Puzzled by DNA Claims on ‘Faces of America’”) writes about the fourth and last episode of “Faces of America,” a PBS documentary series investigating the ancestry of several famous people in America. This fourth episode included several different types of genetic genealogy to examine the ancestral origins and relatedness of the show’s members.

1. Whole Genome Sequencing by Knome

The first type of genetic genealogy was whole-genome sequencing by Knome of Henry Louis Gates and his father. This analysis examined Henry’s (“Skip’s”) genome for medical conditions and physical traits, and also compared his DNA to his father’s, thereby allowing them to deduce the entire DNA contribution from his deceased mother. This segment was actually quite moving, as Dr. Gates was able to establish this intimate connection to the mother that he and his father obviously missed very much.

2. SNP Analysis by 23andMe

The second type of analysis was large-scale SNP analysis of everyone’s genome by 23andMe. The show primarily focused on the Ancestry Painting, which uses information from throughout the entire genome to determine a very rough estimate of your ancestry. Ancestry Painting breaks down the genome into three categories: Asian/Native American, European, and African. Stephen Colbert, for example, was 100% European, while Eva Longoria was 70% European, 27% Asian/indigenous, and 3% African. I don’t recall any mention or use of 23andMe’s medical or physical trait analysis in the show.

3. mtDNA and Y-DNA Haplogroups

The third type of genetic genealogy was haplogroup testing. In this segment, Dr. Gates spoke with Dr. Bryan Sykes of Oxford Ancestors, which was interesting because it was the first time I’ve ever seen him speak. There didn’t appear to be any surprises here.

4. Mysterious Genomic Comparisons

The fourth type of genetic genealogy testing in the episode is what has caused so much confusion among genealogists. Dr. Gates introduced David Altschuler and Mark Daily as “research geneticists at the Broad Institute.” According to Dr. Gates, Altschuler and Daily have “pioneered a new kind of genetic analysis that can determine if any two people share a common ancestor within the last several centuries.” Although Dr. Gates repeatedly said within the last “250 years”, the scientists repeatedly said “hundreds of years.” A slight difference perhaps, but I tended to disregard the “250 years” as more of a simplification by Gates for purposes of the show rather than any actual limit discussed by the scientists. Regardless, this doesn’t make their analysis any more clear.

Unfortunately, I have been unable to locate any discussion, literature, or publication by Altschuler or Daily (or anyone else) discussing this “new kind” of genetic analysis. If you’re familiar with one, please point it out in the comments so that we can understand their analysis.

Interestingly, the members of the series apparently did not match each other in 23andMe’s Family Finder, since the 23andMe system would have picked up on that, and further analysis would not have been necessary. And since it appeared that they did NOT undergo further testing, I imagine they used their 23andMe data for the analysis by Altschuler and Daily.

As an example of this comparison, according to Altschuler and Daily, Yo-Yo Ma (who was 100% Asian in his 23andMe Ancestry Painting) is related to Eva Longoria (who was 70% European, 27% Asian/indigenous, and 3% African) within the last few centuries. It obviously wasn’t through Native American DNA since any connection there was many, many thousands of years ago. Does Longoria have more recent Asian DNA perhaps? It seems unlikely (but is certainly not impossible). The fact that this was simply glossed over was an oversight.

I’m having a hard time understanding the results from Altschuler and Daily.  Can anyone else shed any light on their analysis?

Conclusion

Despite the confusion created by the fourth type of genetic analysis, I really enjoyed this episode of Faces of America. As always, it was interesting and entertaining to watch them receive their results and explore their ancestry.

What are your thoughts?