Thursday, 26 February 2015

The saga continues - CymruDNAWales, S4C, the Tudor surname and "Who are the Welsh?"

A genetic astrology alert has been issued for Sunday evening in Wales. I have received reports that S4C, the publicly funded Welsh language TV station, is scheduled to broadcast a programme at 8.00 pm entitled "Who are the Welsh?". This is another venture involving Alistair Moffat, the Managing Director of the Moffat Partnership, a company which offers genetic ancestry testing through its BritainsDNA, ScotlandsDNA, IrelandsDNA and CymruDNAWales websites. He is also the former Rector of St Andrew's University and has the unique distinction of being the only Rector in the university's entire history who was not nominated for an honorary degree. Readers of this blog will be well aware of the ongoing BritainsDNA saga which we have documented at length on our UCL Debunking Genetic Astrology website. The latest development in the saga follows a familiar pattern. Once again it would appear that tax payers' money is being used to promote a commercial company which has been disguised as a "scientific" research project. Not surprisingly it turns out that Ian Jones, the CEO of S4C, who commissioned the programme, is an old friend of Alistair Moffat's. A trailer for the programme can be seen here:


S4C have a dedicated website for CymruDNAWales where Alistair Moffat introduces the project in his usual florid prose:
Using the most advanced DNA testing in the world, we will replace myth-history, wish-fulfillment and folk tales with scientific facts. By sampling the DNA of the modern population of Wales we can trace the story of an ancient people far beyond written records, back into the darkness of prehistory, right up to the retreat of the ice and the coming of the pioneers, the first to see the familiar landscape of the old land for more than 14,000 years.
In order to participate in the "project" it is necessary purchase a commercial DNA test from the Moffat Partnership who are described as the "science experts in this project".

In anticipation of the programme Sense About Science have issued a Welsh-language version of their pamphlet on Sense About Genetic Ancestry. For details see here:

http://www.senseaboutscience.org/news.php/434/welsh-translation-of-sense-about-genetic-ancestry-testing-ahead-of-s4c-documentary

The programme has already generated controversy before it has even been aired because of the commercial interests involved and the unscientific claims that have already been made by CymruDNAWales. A critical blog has been published in Welsh in which the author claims that S4C were aware of the concerns of scientists but chose not to reveal them to the audience. The blog can be read here:

https://syndod.wordpress.com/2015/02/25/dna-cymru-s4c/#more-7

If you use Google Chrome it will automatically translate the text into English and you should be able to pick up the gist of the article.

The Welsh news website golwg360 reported on the concerns raised in the blog post and have published a response from Llion Iwan, Commissioner Factual Content for S4C. He claims that the "project" has "consulted widely with academics and experts in history, archaeology and the biosciences, in a number of respected organizations across the UK". You can read the article here:

http://www.golwg360.com/newyddion/cymru/178817-blog-yn-codi-amheuon-am-raglen-am-dna-y-cymry

We will have to reserve judgement until we've seen the programme and we find out who these "experts" are.

However, the coverage that CymruDNAWales generated in the Welsh press when it was launched in September last year does not inspire confidence in the scientific and historical credibility of the project as can be seen from the following stories which are remarkably devoid of "scientific facts":

- Dafydd Iwan, the former president of Plaid Cymru, was regaled with a fanciful story about his rare "Celtic" marker.

- Alistair Moffat's friend Ian Jones, the CEO of S4C, was told that his Scandinavian DNA marker indicated he was probably descended from Svein, the "invading Scandinavian warlord from whom Swansea first got its name".

- In a story published on Wales Online it was claimed that "a staggering quarter of all men in Wales with four Welsh grandparents can actually claim to be descended from about 20 rulers from the Dark Ages period – kings, warlords, or other powerful men who governed the land around 1,500 years ago".

It is of course very easy to make up exciting stories about our ancestry but storytelling is not science. Publishing misleading stories in the guise of science only serves to mislead the public and to detract from the legitimate scientific research in this field which is being done by reputable scientists.

In addition to the advertorial on S4C, CymruDNAWales are also trying to promote sales of their DNA kits by launching an appeal for "Welsh men with the surname of Tudor to volunteer to be tested by CymruDNAWales to ascertain if they can lay claim to having the family of Henry VIII and Elizabeth I as their forbears [sic]". To gain maximum publicity the appeal went out on the same evening that the last episode of the Tudor drama Wolf Hall was aired. However, the concept of the project appears to be fatally flawed. The family tree of Henry VIII, in common with all royal lineages, has already been very well researched and there are not thought to be any direct male-line descendants. Furthermore, surnames were adopted very late in Wales, and in some of parts of Wales the old patronymic naming system was still being used well into the nineteenth century. Testing men with the Tudor surname is, therefore, not likely to yield any meaningful insights! 

If you wish to watch the Welsh DNA programme on S4C, despite the genetic astrology warning, it can be seen in Wales on S4C and elsewhere in the UK on Sky 134 / Freesat 120 / Virgin 166. It can also be viewed live online at http://www.s4c.co.uk/clic/c_live.shtml though I'm not sure at present if the programme will be streamed in other countries. A recording of the programme will be made available for 30 days on the S4C/BBC iPlayer.

© 2015 Debbie Kennett

Wednesday, 28 January 2015

AncestryDNA test now on sale in the UK and Ireland

The AncestryDNA test is now on sale in the UK and Ireland. The AncestryDNA test is an autosomal DNA test which puts you into a database and gives you matches with your genetic cousins on all your different family lines going back for about the last five or six generations. It also gives you estimates of your ethnicity percentages from different regions of the world. AncestryDNA are now the third of the big testing companies along with 23andMe and Family Tree DNA to offer an autosomal DNA test in the UK.

We received reports in the ISOGG Facebook group that e-mails started to be sent out late last night to Ancestry.co.uk subscribers who had applied for an invitation. The invitation e-mail can be seen below.
AncestryDNA have a ready-made market in the UK and Ireland with around 250,000 subscribers, and their test is probably going to introduce many new people to genetic genealogy. That can only be good news for all of us who are already in the databases and who are looking for those all important matches to solve our family mysteries.

However, it is somewhat disappointing that the UK price is so high. The dollar and the pound are not at parity yet Ancestry are charging £99 in the UK - the same price in sterling as they charge in dollars in the US. Ninety-nine dollars works out at just £65. It is difficult to understand how Ancestry can possibly justify charging us 52% more than they charge their American customers. Ancestry have their headquarters in the Republic of Ireland so it may well be that the cost of the test also includes VAT which would account for some of the extra cost.

The postage is double the price that they charge in the US. It will cost £20 for the first kit with a reduced rate of £10 for each additional kit. In the US the charge for shipping is $9.95 (£6.60). However, the £20 shipping charge does include a prepaid mailer to cover the cost of the return postage. It is not known as yet if the kits will be sent out from the US or from Ireland.

When Ancestry launched in the US they offered a free test to 12,000 Ancestry subscribers in order to kickstart the database. The test was officially launched in the US on 3rd May 2012 at an introductory price of $99. In November 2012 the test became available to everyone and the price went up to $129 for subscribers and $199 for non-subscribers. There has been fierce competition in the autosomal DNA testing market in the US. 23andMe reduced the price of their test from $299 to $99 in December 2012. Ancestry later responded by lowering their price to $99 for subscribers and $129 for non-subscribers. In May 2013 the price of the AncestryDNA test was changed to $99 for everyone - subscribers and non-subscribers alike. Family Tree DNA reduced the price of their autosomal Family Finder test to $99 in August 2013. Since then it's been a level playing field in the US with all three companies charging $99 for a test.

However, in the UK it's a somewhat different picture. We now have three autosomal tests available, but all at different prices. The 23andMe test costs £125 inclusive of shipping, though this test provides health reports in addition to the ancestry reports. Canada, the UK and Ireland are currently the only countries where the 23andMe health reports are sold. 23andMe withdrew their health reports in December 2013 and are currently seeking regulatory approval from the FDA. The health reports were relaunched in the UK in December 2014. The FTDNA Family Finder test, which is purely an ancestry test, costs $99 (£65) plus $9.95 (£6.60) for shipping bringing the total cost of the test up to about £72. The new AncestryDNA test works out at £119 (£99 for the test plus £20 for shipping.)

The choice of testing company will depend on your objectives for testing. There is a detailed autosomal DNA comparison chart in the ISOGG Wiki, which offers a side by side comparison. 23andMe and FTDNA both provide a lot of essential features such as a chromosome browser and the ability to download your matching segment data which are not available at AncestryDNA. However, Ancestry have tried to simplify the testing process and offer a nice interface for integrating with your Ancestry family tree. They also offer a DNACircles feature which puts you in groups with your genetic and genealogical cousins though it remains to be seen how this feature will work in practice for testers in the UK and Ireland. However, in order to have access to the family trees and the DNA Circles feature you will need to maintain your AncestryDNA subscription. Once your Ancestry subscription lapses you will have to pay an additional subscription charge (currently $49 per year in the US) to access these features. Dave Dowell has further details in his blog post Did AncestryDNA quietly become more expensive?

23andMe currently have the largest database. They sell their test in 56 countries and have around 800,000 people in their database. However, I estimate that about 90% of their database are in America. Also, a significant proportion of the 23andMe customers have only tested for health reasons and are not interested in participating in the DNA Relatives cousin-matching service.

Family Tree DNA sell their tests in almost every country of the world and have the benefit of a well established network of projects. There are over 8000 different projects with a wide range of surname projects, geographical projects and haplogroup projects all run by volunteer project administrators. FTDNA are the market leaders for both Y-chromosome and mitochondrial DNA testing. It is estimated that FTDNA have around 120,000 people in their autosomal DNA database. FTDNA have the highest proportion of international customers. It is thought that around 70% of their customers are in the US, and they already have lots of British, Irish, Canadian and Australian people in their database. FTDNA are the only company who allow you to transfer your autosomal results from other companies. 23andMe results (version 3 chip only) and AncestryDNA results can be transferred free of charge, though a small fee is required to unlock additional features. If you test at AncestryDNA make sure you also transfer results over to FTDNA. For details see the article on the autosomal DNA transfer programme in the FTDNA Learning Center.

We now know from the Ancestry e-mail reproduced above that there are around 700,000 people in the AncestryDNA database. (My estimate last week of 740,000 was not far off! See my blog post What is the current size of the consumer genomics market?) However, the AncestryDNA database is about 99.9% American. Much will depend on how many people in the UK and Ireland decide to take the plunge with the AncestryDNA test. I was able to test with Ancestry back in June 2012 when their test first came on the market and before they closed the loophole to stop people from ordering the test from outside the US. I've written a series of articles about my AncestryDNA test which you can find here:




At the moment an autosomal DNA test is best used for testing a particular hypothesis. The databases still have a long way to go before they reach critical mass for testers in the UK and Ireland so if you take a test to go on what we call a "fishing trip" you will probably find that you don't get that many meaningful matches. You should regard an autosomal DNA test as a long-term investment. I've tested with all three companies and here are my statistics:

23andMe: I have 1100 matches. I have one predicted 2nd to 4th cousin, two predicted 3rd to 5th cousins, and 48 predicted 3rd to 6th cousins. My remaining matches are predicted to be 3rd to distant cousins. I have not been able to find the genealogical connections with any of my matches.

AncestryDNA: I  have 1250 matches. I have nine predicted 4th to 6th cousins. The rest of my matches are predicted to be 5th to 8th cousins. I have no "leaf hints" and I am not in any DNA Circles. I have not been able to find the genealogical connections with any of my matches.

Family Tree DNA: I have 357 matches. I have tested both my parents at FTDNA. I have five predicted 2nd to 4th cousins and 31 predicted 3rd to 5th cousins. The remainder of my matches are predicted to be fifth to distant cousins. Apart from confirming that my parents are my parents (!) I have been able to make just one genealogical connection from my FTDNA matches. I have written about that match in my blog post on My first autosomal DNA success story.

If you are testing to find genetic cousins then it's worth being in all three databases if at all possible as you just don't know where you might get the long-awaited match. When the tests work and you do manage to make the connection it does become very exciting and, as the databases grow, we will see many more success stories.

With thanks to Trevor Rix, David Hollister and Stuart Phethean.

Update 29th January 2015
Chris Paton has published the official press release from AncestryDNA on his British Genes blog:

http://britishgenes.blogspot.co.uk/2015/01/ancestry-launches-ancestrydna-service.html
© 2015 Debbie Kennett

Tuesday, 20 January 2015

What is the current size of the consumer genomics market?

The subject of how many people have taken a DNA test is always the source of much speculation, and reliable figures are hard to come by. However, in a report published this week by GenomeWeb Spencer Wells, director of National Geographic's Genographic Project anticipates that "the 3 millionth person" [will] test him or herself during the next few months". In the same article Roberta Estes, who writes the popular DNAeXplained blog, suggests that the three million milestone might already have been achieved. She notes: "23andMe has stated publicly that it has genotyped 800,000 kits, AncestryDNA and the Genographic Project each has genotyped perhaps more than 700,000, and Family Tree DNA has genotyped close to 120,000 people for its Family Finder autosomal DNA offering alone." I thought I would take a look at the available sources for the different companies to see if it might be possible to verify these figures and provide an estimate of the current total.

23andMe
23andMe state in their media fact sheet that they have genotyped more than 800,000 customers.

The 23andMe test is sold in 56 countries of the world. However, I estimate that about 90% of their customer base is in the US. Canada and the UK are currently the only countries where the 23andMe test includes the health and trait reports.

The Genographic Project
The Genographic Project's home page states, as of today's date, that the project has 705,343 participants.

I understood that the Genographic Project kit could be purchased from any country in the world, but from the dropdown menu in their online shop it would appear that the kit is now sold in just 33 countries.

AncestryDNA
AncestryDNA confirmed in August 2014 that they had tested over 500,000 DNA customers. In a presentation given towards the end of last year by Ken Chahine, Ancestry's senior Vice President and General Manager, he stated that AncestryDNA were selling 30,000 to 50,000 DNA kits per month. If we take the middle figure of 40,000 multiplied by six that gives us a figure of 240,000 kits sold since August 2014, bringing the total up to 740,000.

The AncestryDNA test is currently only sold in America, but there are plans to launch the test in the UK, Ireland, Australia and perhaps other countries later this year.

Family Tree DNA
Family Tree DNA provide details only on the number of different types of tests taken and not the total number of customers. According to their website, as of today's date, their stats are as follows:

- 520,257 Y-chromosome DNA records in the database. The Y-DNA database includes 180,005 people who have tested at least 37 Y-STR markers. The FTDNA database also includes several thousand people who have taken the advanced BIG Y test, a comprehensive Y-chromosome sequencing SNP discovery test. FTDNA almost certainly have the largest Y-chromosome DNA database in the world with samples tested at higher resolution than in any other database.

- 190,105 mitochondrial DNA records in the database. The mtDNA database includes 47,849 people who have taken the full mitochondrial sequence (FMS) test. (This test was previously known as the FGS - full genomic sequence test). FTDNA probably have the world's largest database of full mtDNA genomes.

- The number of autosomal Family Finder tests in the FTDNA database has not been publicly disclosed. It is not clear if the 120,000 figure cited by Roberta Estes in the GenomeWeb article mentioned above is an estimate or an actual figure obtained from FTDNA staff, but the number certainly seems to be in line with my own estimates.

FTDNA sell their tests in theory to any of the 200 or so countries of the world. However, they are unable to ship to Iran and Sudan because of customs restrictions.

FTDNA have partnerships with the European company iGENEA and the Middle Eastern company DNA Ancestry & Family Origin. These partnerships have helped to bring in many non-English-speaking customers from Europe and the Middle East, but again many more who will have tested direct with FTDNA.

iGENEA kit numbers are preceded by the letter E. The iGENEA kit numbers in my mtDNA Haplogroup U4 Project go up to kit no. E17977 so it would appear that nearly 20,000 Europeans have tested through iGENEA. Many Europeans will also have tested directly through FTDNA. (It is in fact considerably cheaper to order direct through FTDNA rather than through iGENEA, but iGENEA do have the advantage of a website which is available in French, German, Spanish and Italian.)

The kits from the Middle East are preceded by the letter M. The highest kit with the M prefix that I can find in the large Arab Tribes DNA Project is kit no. 9658 so there are perhaps around 10,000 people who have tested through the FTDNA affiliate in the Middle East.

Family Tree DNA also have partnerships with a number of smaller companies such as DNA Worldwide and Jewish Voice, though these partnerships probably only account for a few thousand kits. For details on the various prefixes see the ISOGG Wiki article on Family Tree DNA kit numbers.

The international diversity of the FTDNA database can be seen in the huge range of geographical DNA projects, which are run by volunteer project administrators from around the world.

Family Tree DNA are the testing partner for the Genographic Project, and all the Geno 2.0 tests are processed in FTDNA's lab in Houston, Texas. Genographic Project participants have the option of transferring their results into the FTDNA database. Genographic Project kit numbers are preceded by the letter N. The highest Genographic Project kit number in the Haplogroup U4 Project is kit number N129937. We therefore know that around 130,000 Genographic Project customers have transferred their results to FTDNA.

Family Tree DNA are the only company who will accept autosomal transfers from other testing companies. They can accept transfers for people who have tested at both AncestryDNA and 23andMe. However, 23andMe transfers can only be accepted if the test was done on the version 3 chip which was sold between November 2011 and November 2013. Kit numbers for the autosomal transfers are prefixed by the letter B. The same prefix is also used for Y-DNA transfers from AncestryDNA and DNA Heritage. AncestryDNA no longer offer Y-STR testing. FTDNA purchased the British company DNA Heritage in April 2011. The highest B kit I can find in my projects is B39616 in the Haplogroup U4 Project, so it would appear that there are getting on for 40,000 third-party transfers in the FTDNA database. Both DNA Heritage and AncestryDNA only ever had quite small Y-DNA databases, and in any case not everyone transferred their Y-DNA results, so I would guess that the majority of the third-party transfers (perhaps in the region of 35,000) are autosomal results from 23andMe and AncestryDNA. It is not clear if the third-party transfers are included in the estimate of the size of the FTDNA Family Finder database or if these transfers are in addition to the autosomal tests processed directly by FTDNA.

It is impossible from these figures to determine precisely how many individuals there are in the Family Tree DNA database because many people who have ordered a Y-DNA test will also have gone on to order a Family Finder test and/or a mitochondrial DNA test and vice versa. The kit numbers probably provide the closest approximation of the number of people in the database. My highest FTDNA kit number is kit number 394825 in the Devon DNA Project. It may well be that the 400,000 milestone has already been passed. If we assume that there are 400,000 FTDNA kits, 130,000 Genographic transfers, 20,000 iGENEA kits, 10,000 kits from FTDNA's Middle Eastern partner, and 5,000 miscellaneous kits, we get a figure of 565,000 which is probably a reasonable estimate of the number of individuals in the FTDNA database.

Other companies
In addition to the big four companies there are a number of other smaller companies such as BritainsDNA, Oxford Ancestors and GeneBase which sell genetic ancestry tests direct to the consumer. A full list of DNA testing companies can be found in the ISOGG Wiki. However, none of these smaller companies disclose the size of their databases, and many of the people who've tested with the smaller companies have retested with one of the big four companies. I hesitate to estimate the number of people tested with these different companies but I do not think the figure can be more than 50,000 and is very likely to be much less than this.

What is the total?
To sum up, the total number of individuals tested at each of the four big companies is as follows;

Genographic Project  705,343
23andMe                    800,000+
Family Tree DNA      565,000 (DK estimate)
AncestryDNA            740,000 (DK estimate)

If we add all these figures together we get a total of 2,810,343. However, this figures makes no allowance for the significant overlap in the four databases as there are many people who have tested at multiple companies. For example, I've had my own DNA tested at 23andMe, Family Tree DNA and AncestryDNA. We can subtract the 130,000 people who have transferred their Genographic results to FTDNA and we can perhaps estimate that about 35,000 people have transferred autosomal DNA results to FTDNA.  That brings the total down to 2,645,343. There is probably more overlap than I've allowed for, but it does seem very likely that there are currently around two and a half million people in the world who have paid for a DNA test with the big four companies. It will be interesting to see what these figures look like this time next year.

© 2015 Debbie Kennett

Thursday, 8 January 2015

The Ancestry Y-DNA and mtDNA samples have not been destroyed after all

Ancestry announced back in June 2014 that they would be retiring their Y-DNA and mtDNA tests. Ken Chahine, Ancestry's Senior Vice-President, wrote at the time that the company had taken the decision to destroy the Y-DNA and mtDNA samples:
"Second, as part of the decision to retire Y-DNA and mtDNA tests we were faced with another difficult decision of what to do with the customer samples. On the one hand, we understand the value of these samples to many of you. On the other hand, we take customer privacy seriously and, regrettably, the legal framework used to collect these samples does not allow us to retest or transfer those samples. Practically speaking, many of these samples are also no longer useable. For example, many of the swabs were exhausted of genetic material during our testing or the sample may be past its shelf life. In the end we made the difficult decision to destroy the samples and are committed to trying to find solutions to these roadblocks for future products." (Source: http://blogs.ancestry.com/ancestry/2014/06/12/comments-on-y-dna-and-mtdna-tests)
There was widespread concern in the genetic genealogy community at the potential loss of this valuable resource. The decision was particularly hard on those people with deceased relatives in the AncestryDNA database. Many people wrote to Ancestry to ask for the samples to be retained and a petition was started asking them to reconsider. A number of leading genetic genealogists and bloggers also pleaded directly with Ancestry to ask them to change their minds. Nevertheless, it was widely assumed that once Ancestry's Y-DNA and mtDNA database was taken down at the end of September 2014, the DNA samples would be destroyed at the same time. However, I'd heard unofficially that the samples hadn't been destroyed after all so I asked Mike Mulligan, International Product Manager of Ancestry.com, for clarification on the issue. This is the official response that he sent me from the AncestryDNA team:
AncestryDNA stores DNA samples in a secure facility designed specifically for the preservation of DNA. Though we no longer offer Mitochondrial and Y-DNA specific DNA tests, Ancestry continues to store the DNA samples collected from the past. We are currently in discussion as to the future of the stored Y-DNA and Mitochondrial samples and take this responsibility seriously. Ancestry understands the value of the tests to family history research and for this reason, members will continue to have access to their digital results by downloading the file from the AncestryDNA results page. This feature will be available for the foreseeable future. 
When a decision is made, Ancestry will work to inform customers affected by these changes. In the meantime, be assured that Ancestry is working toward the best outcome for the Mitochondrial and Y-DNA samples.
It's reassuring to know that Ancestry have listened to their customers, and I hope that a satisfactory solution can be found for everyone concerned.