Showing posts with label Alistair Moffat. Show all posts
Showing posts with label Alistair Moffat. Show all posts

Wednesday, 23 March 2016

Acquisition of BritainsDNA by Source BioScience

I wrote in January about the changes at the Moffat Partnership (the parent company of BritainsDNA and ScotlandsDNA), the resignation of the directors, including Alistair Moffat and Jim Wilson, and their replacement with directors from the Nottingham-based sequencing company Source BioScience.

It's now been officially confirmed that Source BioScience have purchased BritainsDNA. See this story in the Nottingham PostThere are further details in the Source BioScience financial report for 2015 which is available on their website. Here are the three relevant paragraphs from the report:
"In December the Group acquired BritainsDNA, a provider of DNA-based ancestry and genealogy products to the consumer market. Source BioScience has been providing the laboratory testing and analysis for BritainsDNA for a number of years. The acquisition will deliver incremental revenue and increased operational efficiency for this business. The commercial activities will be migrated across to the Group’s ecommerce platform and e-Shop early in 2016."
"The Moffat Partnership Limited (‘BritainsDNA’) On 10 December 2015 Source BioScience completed the acquisition of the entire ordinary share capital of BritainsDNA for total consideration of £0.1 million. The principal activity of BritainsDNA is the provision of DNA Ancestry testing. The acquired business contributed negligible revenue and profit before tax to the Group for the period from 10 December 2015 to 31 December 2015. If the acquisition had occurred on 1 January 2015, Group revenue would have been £0.5 million higher and the profit before tax would have remained unchanged on a pro forma basis. These amounts have been calculated by adjusting the results of the subsidiary to reflect the additional amortisation that would have been charged assuming the fair value adjustments to intangible assets required by IFRS had been applied from 1 January 2015."
“During 2015 we completed the acquisitions of Select and BritainsDNA and invested in a number of infrastructure projects to improve operational efficiencies, enhance capacity to meet demand and address new markets for our expanded portfolio of Laboratory Services and Products. 
According to the Companies House website the Moffat Partnership has now changed its name to Source BioScience Scotland. At the moment all the various BritainsDNA websites seem to be operating as usual with no indication of the change of ownership or the changes in the company personnel.

BritainsDNA normally have a stand at Who Do You Think You Are? Live, the big UK family history show, but this year they are not included on the list of exhibitors.

It remains to be seen what plans Source BioScience have in store for the company. Does anyone have any further information?

Friday, 15 January 2016

Big changes at the Moffat Partnership, the parent company of BritainsDNA and ScotlandsDNA

There seems to have been a big shake up at the Moffat Partnership, the parent company of BritainsDNA, ScotlandsDNA, CymruDNAWales, IrelandsDNA and YorkshiresDNA. According to reports filed yesterday at Companies House Alistair Moffat, Lindsay Moffat, Jim Wilson, Angelika Kritz-Wilson and Francis Rowan Oldfield De Courcy Hamilton stood down as directors on 9th December last year. Three new directors were appointed on 9th December: Timothy Charles Metcalfe, Dr. Nicholas Watson Ash and Dr. Nicholas Ivor Leaves. The three new directors all work for Source Bioscience, the company who process the Chromo2 DNA tests for the Moffat Partnership companies. Nick Ash is the CEO of Source Bioscience. Dr Nick Leaves is the company's Chief Operating Officer and Timothy Metcalfe is the Group Finance Director. It therefore looks very much as though the Moffat Partnership has been acquired by Source BioScience though I can find no official announcement. The various Moffat Partnership websites seem to be trading as normal.

Here is a description of Source BioScience from the company website:
With over 15 years of Sanger sequencing experience, the service operates from state of the art facilities in Nottingham, Cambridge, Oxford, Rochdale and BioCity Scotland, with European facilities in Ireland and Germany. The sequencing service provides unique benefits for the customer including an Overnight service, easy online ordering and SpeedREAD automated data delivery. 
Complimenting this, the next generation sequencing service for life science research, molecular pathology and clinical diagnostics utilises the Illumina MiSeq™ and HiSeq™ platforms to provide the most comprehensive and advanced service from GLP/GCP accredited laboratories. 
Contract research services feature a broad range of microarray, genotyping and gene expression applications on Affymetrix, Agilent, and Fluidigm platforms.
An extensive product portfolio includes over 20 million clones and over 200,000 antibodies, plus a wide range of research reagents for use in applications such as cell culture, immunology, nucleic acid analysis and cloning, gene expression and regulation. 
Source BioScience can offer researchers in academia and in the pharmaceutical industry the highest quality resources and innovative technology with maximum flexibility and cost effectiveness.
No doubt further announcements will be forthcoming in due course. It will be interesting to see what the company's plans are for the various Moffat Partnership websites.

©2016 Debbie Kennett

Saturday, 5 December 2015

My thoughts on DNA Cymru Part 3 and the significance (or lack thereof) of large genetic clusters

The third part in the controversial S4C series DNA Cymru was broadcast on the Welsh-language TV channel S4C last Sunday. The programme (with English subtitles) is available on the BBC iPlayer for the next 28 days, and can also be viewed on the S4C catch-up website.  For background read my reviews of Part 1 and Part 2.

The DNA Cymru series has been criticised because of the perceived use of a public service broadcaster to promote a commercial company in the guise of a research project. In order to participate in the "research" it is necessary to purchase an expensive DNA test, and the TV programmes themselves have been used to promote the sale of the kits. The results of the "research" have not been published in a scientific journal, and have therefore not gone through the usual process of peer review which is the minimal standard for credibility.

In the third programme in the series we were presented with further findings from DNA Cymru's "research". Dr Jim Wilson, the Chief Scientific Officer of Cymru DNA Wales, featured prominently on the programme. CymruDNAWales is one of a family of companies operated by the Moffat Partnership.* Jim Wilson is a major shareholder of this company, though his financial interests were not mentioned in the programme. CymruDNAWales have partnered with S4C to produce the DNA Cymru series. It also turns out that Alistair Moffat, the co-founder of the Moffat Partnership, is an old friend of Ian Jones, the CEO of S4C.

Chieftains, noblemen, princes and kings
The main finding of this episode was that "a high percentage of today's population are the descendants of brave warriors alluded to in our national anthem  the nation's ancient chiefs and princes". This "research" is based on the test results of 1000 people who have paid for a Y-chromosome DNA test from the CymruDNAWales website over the past year. A Y-chromosome test is taken by males, and focuses on the patriline - the line of inheritance which usually corresponds with the transmission of surnames. No details were provided as to the qualifying criteria for inclusion in the study other than an ability to pay for a DNA test, though I imagine that participants would probably be required to have a paternal grandfather who was born in Wales.

An analysis of the Y-DNA results revealed that there were twenty genetic clusters in Wales. These clusters were defined as "unique sub-branches in the Y-chromosome tree". Ten of these clusters were analysed in more detail to get an estimate of their age, and in some cases this involved sequencing the Y-chromosome.

The claim was made that these ten genetic clusters trace back to ten men who were born about 1000 to 2000 years ago, and that these men are the direct male-line ancestors of 18% of all Welshmen today or around one in five of the male population. This figure equates to over 200,000 men in Wales and nearly 500,000 men all around the world. It was further claimed that these ten men were probably all brave warriors, prominent chieftains, noblemen, princes and kings who had "shaped society in a way that no one had suspected before". Dr Jim Wilson commented: "They certainly outbred their peers. Probably they were nobleman, chieftains and kings. If this prominence is inherited the ability to have more sons is inherited down the male line."

It was stated that similar genetic clusters had been found in Scotland for some of the Scottish clans and in Ireland where many males are the descendants of early chieftains, though the clustering seen in Wales was more extreme than that seen in Ireland and Scotland.

The details were not given on the programme but there was a study carried out in 2006 out by a team at Trinity College Dublin which found a prevalent Y-chromosome DNA signature in Ireland (Moore et al 2006). It was suggested that this signature showed "a significant association with surnames purported to have descended from the most important and enduring dynasty of early medieval Ireland, the Uí Néill ". This line traces back to a "possibly mythological 5th-century warlord" known as Niall of the Nine Hostages. However, the testing in this study was done at very low resolution (17 Y-STRs), and there is considerable uncertainty over the dating of the TMRCA (time to the recent common ancestor). Better TMRCA estimates can now be obtained from the results from the newer next-generation sequencing tests. The findings have also been criticised on historical grounds (Swift 2013).

No equivalent study has been carried out in Scotland, though there are numerous surname DNA projects run by genealogists investigating Scottish surnames. Dr Jim Wilson mentioned on the programme that a large number of people with the surnames MacGregor and Stuart formed a big genetic family - a genetic cluster of closely related Y-chromosomes. There are large DNA projects for the McGregors and the Stewarts. Both projects are hosted at Family Tree DNA, but some of the project members will have had supplementary testing through one of the Moffat Partnership companies.

For an independent opinion on the question of the plausibility of the suggestion that the "genes of people today" can be connected with "the bloodline of historical princes" the programme paid a visit to Dr Chris Tyler-Smith at the Sanger Institute in Cambridge. Tyler-Smith's lab published a paper in 2003 on "The genetic legacy of the Mongols" (Zerjal 2003), and he described the results of this research. A large Y-chromosome cluster   a set of closely related Y-chromosome types  – was found purely by chance in the "genetic landscape across Europe and Asia". The cluster was thought to date back to Mongolia about 1000 years ago. This large cluster could be a result of natural selection where "the lineage has a particular biological advantage" but that is not thought to be a plausible explanation in the case of the Y-chromosome. The alternative is that there is "some social advantage. In simple terms this means that one man has fathered many different children, and this social advantage must have lasted over many generations." It was suggested that the most likely explanation for this large genetic cluster is that it is linked to "the exploits of Genghis Khan" who is thought to have around 20 million living descendants.

Tyler-Smith also appears to have been given the opportunity to look at the data from the DNA Cymru project. He commented that the number of clusters was remarkable, and he also noted how much of the population was included in these clusters which was higher in the Welsh data than in other datasets he'd seen.

The programme's researchers seemed to be unaware of a subsequent study by Balaresque et al (2015) which analysed the Y-DNA signatures of 5321 males in Asia and identified 11 descent clusters "that represent likely past instances of high male reproductive success". These clusters were associated with "expansions that began between 2100 BCE and 1100 CE, found both among sedentary agriculturalists and pastoral nomads". One of the clusters corresponded with the "Khan" descent cluster identified in the Zerjal study. The authors commented that this was "the most striking signal of an Asian expansion lineage, representing 2.7% of the entire data set, and the highest number of identical Y-chromosomes (N=71)". They suggested that "High reproductive success is often associated with high social status, ‘prestigious’ men having higher intramarital fertility, lower offspring mortality and access to a greater than average number of wives". They also suggested that with next generation sequencing and new ancient DNA approaches it might be possible to identify "the prestigious and powerful pastoralist founders" of these high-frequency descent clusters.

But how plausible is the suggestion that large descent clusters must always be associated with prestigious and powerful people? Is there another explanation? Could such clusters occur by chance? Guillot and Cox (2015) have published an interesting preprint in response to the Balaresque paper which investigates this question using computer simulations. The paper is currently going through an open peer review process. The authors concluded:
The most parsimonious explanation is therefore that the high frequency haplotypes observed in Central Asia are simply expected chance events, and an explanation invoking cultural transmission of reproductive success is not necessary to account for them. As no other evidence is presented to support proposed links to famous historical men, these haplotypes instead most likely reflect the chance proliferation of random male lines, probably from historically unrecorded, culturally undistinguished, but biologically lucky Central Asian men.
Similar conclusions were reached in a study of 131,060 Icelanders which combined genetic information with detailed genealogical records (Helgason et al 2003). They found skewed distributions of both mtDNA and Y-chromosome haplotypes:
These results demonstrate even over a short timeframe of a few hundred years, during which the size of the Icelandic population increased almost fivefold, only a minority of potential ancestors actually contributed mtDNA or Y chromosomes to the contemporary population. The vast majority of contemporary females (58,832 or 91.7%) are descended from only 22% (7,041) of the potential matrilineal ancestors born between 1848 and 1892, and most contemporary males (57,686 or 86.2%) are descended from only 26% (8,275) of the potential patrilineal ancestors. The results are even more striking for matrilines and patrilines traced back to the 1698–1742 ancestor cohort.
It may well be that with ancient DNA samples and further genealogical research it will be possible to attribute some high-frequency haplotypes to specific prestigious individuals, but it seems plausible that many of these clusters have arisen by chance and it will never be possible to identify the founders.

The Tudors
The programme also included a discussion of the results from a rather puzzling study of the Tudor surname. Men with the surname Tudor were invited to take a Y-DNA test as part of the "project" in an attempt to identify the genetic signature of the royal Tudor lineage. However, such an investigation was doomed from the start because there are no known male-line descendants of Henry VII and Henry VIII. In addition, Wales has traditionally used a patronymic naming system so there is no historical link between the surname and the Y-chromosome. The adoption of hereditary surnames was a gradual process, and the patronymic system persisted in some parts of Wales right through until the nineteenth century. The undisclosed number of men who had their DNA tested as part of the Tudor research were divided into three genetic families, and the results were not surprisingly described as "inconclusive".

However, although there are no direct male-line descendants of Henry Tudor it is possible to trace his tree further back in time to Ednefyd Fychan, a prominent 12th-century Welsh leader. The line can then be traced forwards through a different line of descent to the present day. Two males descended from Ednefyd Fychan were identified and had their DNA tested but the DNA results did not match. However, if further descendants can be traced then it may well be possible to determine the Y-DNA signature of the Tudors.

Some genealogy
The rest of the programme was taken up with an investigation of the genealogical lineages of some of the men who had taken part in the DNA Cymru "project" with a particular focus on noble and ancient lineages. While the emphasis on genealogy was most welcome the approach seemed somewhat ad hoc, with the DNA testing done first and the genealogy explored afterwards but in a very unstructured way. In each case only one person from the lineage was tested, whereas the usual practice in a genealogical research project is to test at least two cousins who share descent from the ancestor in question in order to identify his ancestral haplotype (DNA signature) and to rule out the possibility of what is known as a non-paternity event. I'm not familiar with the ancient Welsh genealogies but it also seemed that many of the ancient connections were highly speculative. We would not normally expect genealogical research to go through the peer review process, but we would hope to see the research published on a website or in a respectable genealogical publication such as The Genealogist, the journal published by the Society of Genealogists. None of the research featured on the programme appears to have been published anywhere so I've summarised the results briefly below.

A man by the name of Jim Williams was interviewed. His family had lived in Llywele as far back as the 15th century, and the family claim to be descended from the Welsh king Hywel Dda. His haplogroup was R1b-S300 (L371)

Jim Cockburn-Powell has a lineage which can be traced back to one Roland Powell who was born in 1599. His male-line ancestry can then possibly be linked with a man called David Powell of Flint who appears in the Welsh genealogies and this line ultimately traces back to Cunedda Wledig, a British chieftain of the Votadini in south-east Scotland. Jim Cockburn-Powell belongs to haplogroup R1b-PF5191 which we were told is rare in England and not seen outside Wales.

Alexander Talbot-Rice lives at Newton House, the home of the Barons of Dinefwr, and is supposedly descended in the direct male line from a George Rice who married Lady Cecil Dinefwr, Baroness Dinfwr. George Rice is descended from Henry Rice Fitz Urien whose lineage supposedly goes all the way back to Urien Rheged, a sixth-century king. Alexander Talbot-Rice's haplogroup is G-Z674 which is apparently "highly enriched" in Wales, and particularly in southern Wales.

At the end of the programme we were introduced to the Welsh rugby player Colin Charvis. His dad is from Jamaica and his Y-line can be traced back to his great-great-grandfather Frederick Charvis who was born soon after the abolition of slavery in Jamaica. He would be expected to have an African Y-DNA haplogroup but his results showed that he is R1b-A228, a genetic cluster which is found predominantly in Wales.

Conclusion
Genetic genealogy  the use of DNA testing in combination with genealogical and historical records  is a legitimate and credible process. It was therefore encouraging to see a greater emphasis on genealogy in this programme, though it would have been interesting to have had feedback from historians and expert family historians who could have commented on the credibility of the published Welsh genealogies. While stories about kings and nobles are good for attracting the headlines and publicising sales of DNA kits, unfortunately the claims made on the programme were pure speculation. In any case if you want to make a programme about the DNA of Wales you need to look at the entire population rather than focus on celebrities and the elite classes. This episode focused solely on the results of Y-chromosome testing which by definition excluded half the population of Wales. I hope this means that a future programme will focus exclusively on the DNA of the female lineages of Wales.

References

Balaresque P et al (2015). Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populations. European Journal of Human Genetics 23, 1413-1422.

Guillot EG and Cox MP (2015).  High frequency haplotypes are expected events, not historical figures. Preprint. BioRxiv. Published online on 8 July 2015.

Helgason et al (2003). A populationwide coalescent analysis of Icelandic matrilineal and patrilineal genealogies: evidence for a faster evolutionary rate of mtDNA lineages than Y chromosomes. American Journal of Human Genetics 72(6): 1370-1388.

Moore LT et al (2006). A Y-chromosome signature of hegemony in Gaelic Ireland A Y-chromosome signature of hegemony in Gaelic Ireland. American Journal of Human Genetics 78(2): 334-338.

Swift C (2013). Interlaced scholarship: genealogy and genetics in twenty-first century Ireland. In: Duffy S (ed). Princes, Prelates and Poets in Medieval Ireland. Four Courts Press.

Zerjal (2003). The genetic legacy of the Mongols. American Journal of Human Genetics 72(3): 717-721.

*The other trading names of the Moffat Partnership are BritainsDNA, ScotlandsDNA, IrelandsDNA and YorkshiresDNA.

© 2015 Debbie Kennett

Thursday, 26 November 2015

My review of DNA Cymru Part 2 - the controversy continues

I wrote earlier on this year about the controversy over the DNA Cymru series on the Welsh-language TV channel S4C. The first programme in the series was broadcast on St David's Day. A further four programmes were planned and the first of these was shown on Sunday. The programme can be seen on the BBC iPlayer with English subtitles, and is available online for the next 28 days. There is also a DNA Cymru website to accompany the new series.

The launch programme was widely criticised. (See for example this article from the Welsh blogger Jac o' the North, this article in Private Eye, and the BBC Radio 4 programme The Business of Genetic Ancestry.) It contained very little in the way of real science and was little more than a promotional tool for the commercial genetic ancestry business CymruDNAWales, one of the trading names of the Moffat Partnership, a company founded by the former journalist and TV executive Alistair Moffat. The editorial integrity of S4C was also brought into question when it transpired that Ian Jones, the CEO of S4C, was an old friend of Alistair Moffat's. One viewer lodged a complaint with S4C about the programme and this complaint is now being investigated by an independent editorial consultant who should be reporting back in the next few weeks

The criticisms clearly touched a raw nerve because in Sunday's programme some time was spent trying to address the concerns. However, the programme makers appear to have misunderstood the nature of the complaints, and they failed to tackle some of the biggest issues. The programme was also very one-sided and they did not give any of their critics the opportunity to voice their criticisms in person. Nevertheless it was a big improvement on the first programme, the claims were not quite so extravagant, and they did include some real science that was mixed in with the storytelling, although it is notable that the real science was coming from independent and credible scientists like Professor Dan Bradley and Professor Peter Donnelly, and not from the ‘tests’ performed by CymruDNAWales

Phylogeography
The programme tried somewhat unnecessarily to defend the concept of phylogeography yet, as far as I'm aware, no scientist is critical of this concept. Phylogeography is the process of matching a genealogical lineage with its present-day geographical distribution. In human evolutionary studies the process is often applied to the phylogenetic trees of mitochondrial DNA and Y-chromosome DNA. The mtDNA tree is published on the Phylotree website. ISOGG (the International Society of Genetic Genealogy) maintains the Y-DNA tree. There is also a minimal reference version of the Y-tree on the Phylotree website. The different branches of the Y-DNA and mtDNA trees refer to different haplogroups, and these haplogroups can be divided into subhaplogroups and ultimately haplotypes. The different branches of the Y-DNA and mtDNA tree often have distinct geographical distribution patterns. This information can in itself sometimes be informative for genealogical purposes and also for forensics.

While phylogeography in itself is a perfectly valid term to describe the present-day geographical distribution of known lineages, issues arise when it comes to making inferences about the geographical origins of those lineages in the past and of the population history that shaped the phylogeography.  The most common approach to this is known as interpretative phylogeography. It is the interpretative aspect that is questioned by the majority of population geneticists (Balloux 2009, Chikhi 2010, Goldstein and Chikhi 2002). Interpretative approaches are, by definition, highly subjective, and can easily be influenced by the preconceived biases or research agendas of the researchers.

By testing the Y-DNA and mtDNA of living people we can learn about the present-day distribution of the different haplogroups, but it is much more difficult to make inferences about the past from modern DNA. Our ancestry is convoluted and very complicated, and is confounded by migration, genetic drift and population size changes in the past. Throughout human history migration has been the rule rather than the exception, and we now know from empirical data that "the current inhabitants of a region are often poor representatives of the populations that lived there in the distant past" (Pickrell and Reich 2014). There is also considerable uncertainty in the dating of the different branches of the Y-DNA and mtDNA trees. Nevertheless, despite these limitations there are some researchers who still try to link Y-DNA and mtDNA haplogroups with specific tribes and historical events. It is, of course, very easy to make such associations and – given the flexibility of interpretative phylogeography – to make the data fit your favourite hypothesis, but there are almost always many different explanations that would fit the available data (Nielsen and Beaumont 2009).

In addition, Y-DNA and mtDNA represent an increasingly smaller percentage of our ancestry as we go further back in time, and consequently they are only weakly informative about our deep ancestry. Y-DNA and mtDNA are also more prone to the problems of genetic drift. However, despite the limitations for deep ancestry, Y-DNA and mtDNA tests are very useful for genealogical purposes where the results can be analysed in combination with genealogical and historical documents.

Ancient DNA is now beginning to transform our knowledge of the past. Although only a limited number of Y-DNA and mtDNA samples are available it is already very clear that the distribution and frequency of Y-DNA and mtDNA haplogroups were very different in the past. With the new next generation sequencing methodologies it is possible to sequence the entire genome whereas early ancient DNA studies focused mainly on mitochondrial DNA.

Real science
The DNA Cymru programme did feature some real science. There were interviews with Professor Sir Walter Bodmer and Professor Peter Donnelly from the People of the British Isles Project (POBI). This project is based at the University of Oxford. They published a landmark paper on the genetic composition of the British Isles earlier this year (Leslie et al 2015). The POBI paper was based on analysis of autosomal DNA, but Y-DNA and mtDNA have also been extracted, and Professor Mark Jobling at the University of Leicester is in the process of analysing these results. This should provide a useful insight into the geographical distributions of the Y-DNA and mtDNA haplogroups of the British Isles. It is strange that the programme makers do not seem to have been aware of this Y-DNA and mtDNA research prior to arranging their partnership with a commercial company to do the same type of testing.

Professor Dan Bradley of Trinity College Dublin was interviewed about his ancient DNA research. He is sequencing 30 DNA samples "across the whole pre-history of Ireland". He says "It's almost like dropping a plumb line through history". He cautioned about making inferences from modern DNA: "There's one problem about looking at the present to study the past, and that is, essentially, the past is a different country. The models we bring up from the present to understand the past may miss big things". He cited the example of Ötzi the Iceman who was found in the Alps but who has a genetic signature which is more like the people of the southern Mediterranean.

The programme also featured interviews with other academics. Archaeologist Rhys Mwyn described Brymbo Man, a Bronze Age skeleton whose burial was typical of the Beaker People. Brymbo Man's DNA has not yet been tested but it would be an interesting study. The linguist and historian John Koch discussed the migration of the Beaker People.

It is not clear how much the academics who agreed to appear on the programme knew about the nature of the collaboration with CymruDNAWales/ScotlandsDNA. The S4C website does state: It’s important to remember that - except where they comment specifically on screen in the programmes – their involvement should not be read as an endorsement of commercial DNA testing". I noticed earlier this week that the text had been changed to clarify that "their involvement should not be read as an endorsement of commercial DNA testing or inferences made from such data", no doubt after concerns were raised by some of the credible scientists interviewed.

Celebrity DNA
The credible science was interspersed with stories about three Welsh celebrities  Caryl Parry Jones, Roy Noble and Ken Owens – who received their DNA results from CymruDNAWales on the programme. Roy Noble was told that his G2a haplogroup was found in the first people who brought farming to Europe. Ken Owens was told that his R1b sub-haplogroup S145 (L21) was brought to Wales with the Beaker People. However, we do not have any way of knowing when these haplogroups appeared in Wales and this is pure speculation. By mixing up the company's storytelling with legitimate scientific research from respected scientists like Dan Bradley and Peter Donnelly, the company are no doubt hoping that some of that credibility rubs off on their own "findings". Unfortunately viewers who are not familiar with the scientific literature might not realise where the legitimate science ends and the storytelling begins.

Commercial interests
The minimum standard for scientific credibility is publication in a peer-reviewed scientific journal. Unfortunately none of the "research" from the CymruDNAWales project has been published anywhere. It is in any case unlikely to get through the peer review process in a respected journal. In order to participate in the DNA Cymru "project" it is necessary to order an expensive DNA test from CymruDNAWales. Consequently the samples are likely to be very biased.

It was reported in the programme on Sunday that DNA Cymru had conducted tests on 1000 people. It seems highly likely that many of these people were encouraged to pay for a test after seeing the launch programme. I note too that the tests are still being surreptitiously promoted on the S4C website. Visitors are invited to click on a link to find out more about the CymruDNAWales "project" but the link provides no information about a scientific research project; instead it takes you to the Moffat Partnership's CymruDNAWales website where you can buy one of their ancestry tests.



We learnt from the programme that the principal scientist for the DNA Cymru series is Dr Jim Wilson. It just so happens that he is also the Chief Scientific Officer of CymruDNAWales and the other associated companies. He is a director of the Moffat Partnership and is a major shareholder with the company. His company, and in particular his business partner Alistair Moffat, have been heavily criticised for manipulating the press and misleading the public with their outrageous stories. At UCL we set up a whole website to counter these unscientific claims, an initiative which has been very well received by the academic community. One is therefore left wondering if the choice to partner with this company was made not as an independent editorial decision but as a result of the friendship of S4C's CEO Ian Jones with Alistair Moffat.

I should clarify that the Chromo 2 test sold by ScotlandsDNA is a perfectly valid test if you are interested in learning about your Y-chromosome and mitochondrial DNA markers. It is only the haplogroup reports provided by the company that have no scientific validity. There is nothing wrong with a TV company using the services of a commercial company. However, S4C, as a public service broadcaster, is bound by strict editorial guidelines to ensure that its impartiality and integrity are not compromised. It has a duty to provide accurate content which is not influenced by commercial interests.

Although the programme was better than the previous one, this is mainly because they incorporated highly respected scientists like Dan Bradley and Peter Donnelly. It is still a big disappointment to see a public service broadcaster being used to promote a commercial genetic ancestry company in the guise of a research project, and to see speculative stories mixed up in such a misleading way with serious science.

Further reading
For more information on the problems of making inferences about deep ancestry from Y-DNA and mitochondrial DNA see the pamphlet Sense About Genetic Ancestry Testing from Sense About Science. This guide was written by my colleagues at UCL Professor Mark Thomas and Professor David Balding in collaboration with some of the big names in population genetics: Dr Turi King, Dr Lounès Chikhi, Dr Rosalind Harding, Professor Mark Jobling and Professor Guido Barbujani.

For further information on phylogeography and the problems with the interpretative approach see the ISOGG Wiki article on phylogeography.

References

Balloux F (2009). The worm in the fruit of the mitochondrial DNA tree. Heredity 104: 419-420.

Chikhi L (2010). Update to Chikhi et al.'s "Clinal Variation in the Nuclear DNA of Europeans” (1998): Genetic Data and Storytelling - From Archaeogenetics to Astrologenetics?" Human Biology 81(5/6): 639-643.

Goldstein DB, Chikhi L (2002). Human migrations and population structure: what we know and why it matters. Annual Review of Genomics and Human Genetics 3: 129-152.

Leslie S, Winney B, Hellenthal G et al (2015). The fine-scale genetic structure of the British population. Nature 519: 309–314.

Nielsen R, Beaumont MA (2009). Statistical inferences in phylogeography Molecular Ecology 18: 1034–1047.

Pickrell J, Reich D (2014). Towards a new history and geography of human genes informed by ancient DNA. Trends in Genetics 2014; 30 (9): 377-389 (subscription required). Available as a preprint from from BioRxiv.

© 2015 Debbie Kennett

Saturday, 7 March 2015

More on the S4C DNA Cymru controversy and my review of "Who are the Welsh?"

I wrote last week of my concerns over the programme Who are the Welsh which was broadcast last Sunday evening on the Welsh language TV station S4C. It is the first chapter in a series of programmes on Welsh DNA (DNA Cymru) with the remaining programmes scheduled to be broadcast in the autumn. I had intended to watch the programme live but unfortunately while BT were in the process of trying to fix our phone line we lost our internet connection. Our internet was finally restored on Thursday and I've only now had a chance to catch up on the programme, and to investigate in more detail the issues involved.

DNA Cymru is billed on the S4C website as being part of a "groundbreaking project" undertaken in partnership with the "successful Scottish research company responsible for ScotlandsDNA". ScotlandsDNA is one of the trading names of the various websites operated by the Moffat Partnership. The other websites include CymruDNAWales, BritainsDNA, IrelandsDNA, YorkshiresDNA and IzzardsDNA. However, the Moffat Partnership is not a "research company" but a for-profit company. There is no evidence of any research activities from the company. There have been similar "projects" before, particularly in Scotland, which have generated a lot of media coverage over the last few years but these "projects" appear to be nothing more than marketing exercises. There has so far not been a single paper published in a scientific journal and no results have ever been presented at a scientific conference. Many of the exaggerated claims emanating from BritainsDNA and ScotlandsDNA would in any case be unlikely to stand up to scientific scrutiny.

S4C is a Welsh-language public service broadcaster funded by taxpayers' money and it has a statutory duty to ensure impartiality and fairness. The S4C programme guidelines state: 
S4C’s ability to ensure due impartiality and fairness in its services is essential in order to retain its credibility as a public service broadcaster. The viewing public must be able to have faith in the integrity and objectivity of S4C’s programmes and services at all times. It is vital to S4C’s credibility and reputation that its viewers can be sure that any outside activities or interests of Faces and Editorial Persons (as defined in section 3 below) will not in any way undermine S4C’s impartiality or integrity and that editorial decisions are not influenced by any conflict of interests. These guidelines aim to ensure that S4C’s impartiality and integrity are not compromised or perceived to be compromised. At the same time, S4C wishes to avoid imposing unnecessary or disproportionate restrictions on its Faces or Editorial Persons and will apply these guidelines in a way which ensures this.
S4C introduced new product placement guidelines in February 2011, and product placement and commercial references are now permitted in some programmes. However, the guidelines make it clear that such arrangements should not influence editorial decisions:
S4C’s principal concern as a public services broadcaster is protecting and maintaining the editorial independence and integrity of its programmes. The viewing public must be able to have faith in the objectivity of S4C’s programmes and services at all times. It is vital to S4C’s credibility and reputation that its viewers can be sure that any product placement is not unduly prominent or promotional so as to undermine S4C’s impartiality or integrity and that editorial decisions are not influenced by any conflict of interests.
It is therefore a matter of some concern that S4C has been used as a vehicle to promote a non-scientific project which is designed purely to generate sales of DNA kits for the Moffat Partnership. The entire programme seemed to be nothing more than an extended advertorial. Viewers were told that the DNA tests are "available to everyone regardless of family background or how recently you've come to Wales". However, to participate in the "project" viewers were encouraged to pay for a very expensive DNA test from CymruDNAWales, one of the websites run by the Moffat Partnership. The screenshot below is taken from the S4C DNA Cymru website which has been set up to promote the programme.


Clicking on the red link takes you straight through to the Moffat Partnership's CymruDNAWales website where you can read their terms and conditions and go on to explore the website and order a DNA test. There are currently only two main tests advertised on the website - the Chromo 2 Complete test for males which costs £250 and the Chromo 2 Complete mtDNA test for females which costs £220.1

The Moffat Partnership are of course not the only company offering genetic ancestry tests. For details of alternative testing companies and comparison charts for the currently available tests see the list of DNA testing companies in the ISOGG Wiki. Nearly all of these companies offer equivalent or more advanced tests and often at much lower prices. However, the programme failed to mention any of these alternative testing options. It would be interesting to know if any of the other companies had been approached to tender for the DNA Cymru "project".

The programme also failed to mention any of the legitimate ongoing scientific research that might be of interest to the people of Wales. For example, the People of the British Isles Project (POBI), based at the University of Oxford, is a real groundbreaking scientific research project which is due to publish a major paper in the next month or so. The POBI researchers have been able to detect genetic differences between the people of North and South Wales and also possible signals of "Little England" in Pembrokeshire. The Impact of the Diasporas is a major five-year research project at the University of Leicester focusing on the "cultural, linguistic, and genetic interactions between peoples known to history as ‘Celts’, ‘Britons’, ‘Anglo-Saxons’, and ‘Vikings’". There is also a project at Oxford University led by Dr Ceiridwen Edwards which is using ancient DNA to investigate "mass migration and apartheid in Anglo-Saxon Britain".

So what did the programme itself actually cover? The first half of the programme provided a very dumbed down and and at times inaccurate version of the human story. There was a lot of loud music that might have been more appropriate in an advertisement for after shave, and brooding shots of bearded men and long-haired women dressed up in cloaks and furs, and often riding on horses.

There were some rather nice graphics which were used to explain some of the basic DNA concepts such as haplogroups (populations groups which share a common genetic line of descent). However, the programme's researchers seemed to be completely unaware of all the recent advances in ancient DNA testing which is now helping to transform our knowledge of the past. It was mistakenly claimed that "by identifying where haplogroups are common today we can estimate where they came from in the past" yet we know from ancient DNA testing that the distribution of haplogroups even a few thousand years ago is very different from the present-day distribution.2

The whole premise of the "project" is deeply flawed because the researchers are only using Y-chromosome DNA and mitochondrial DNA which, as was stated on the programme, comprise only 2% of our total DNA. While Y-DNA and mtDNA tests can be very useful for genealogical purposes because of the lack of recombination, they become increasingly less meaningful as you go further back in time and can only ever represent a small fraction of the total ancestry of the human population, and consequently can tell us very little about our ancient origins.

The second half of the programme featured Welsh celebrities receiving their DNA results from CymruDNAWales. They were regaled with the usual fanciful and unscientific haplogroup stories that will be familiar to anyone who has been following the BritainsDNA saga. The stories given to the celebrities looked as though they were identical to the reports that are given to ScotlandsDNA/BritainsDNA customers. 

The weather forecaster Sian Lloyd told viewers that she desperately wanted to be Welsh. She was found to belong to haplogroup T2a1a (the "foragers!") and was told that she was related to Tsar Nicholas II and four British kings. It was not explained to her that the test she took only represented her matrilineal line (the line of her mother, her mother's mother, her mother's mother's mother...), which represents only a tiny proportion of her total ancestry. There is in any case no DNA test which can determine your nationality and there never will be because we are all such a complex mix. The testing that was done on the remains of Tsar Nicholas II was a very low resolution test which was only able to determine that the base haplogroup was T2. The shared mtDNA ancestry is likely to go back many thousands of years and is therefore quite insignificant.

Dafydd Iwan, the former president of Plaid Cymru, was informed that he had a newly discovered marker (SNP) known as S300 which had been been labelled as "Ancient Welsh" and which the programme's "experts" believe denotes a "quintessentially Welsh haplogroup". We were told that S300 is supposedly found in only about 3% of Welsh people and a few people in England. ScotlandsDNA/BritainsDNA use a proprietary naming system for most of their markers and they precede many of their marker names with the letter S. Many of these markers are more commonly known by alternative names. S300 is not a newly discovered marker. S300 is more commonly known as L371 and was added to the ISOGG SNP tree back in March 2011.

Gareth Edwards, the rugby player, was told that his Y-DNA haplogroup is I-M253 Tiwtonaidd (Teutonic) and that his motherline was H2a2a1 and shared a genealogy with the "pioneers". Bryn Terfel, the opera singer, was informed that his Y-DNA haplogroup was I-S2606 which was given the nickname Rhinelander and is supposedly most common in Scandinavia.

The silly nicknames given to the haplogroups in the programme are a particular feature of the reports provided with the Chromo 2 test. However, there is no scientific justification for the use of these nicknames, and the implied association with historical groups is highly misleading. A full list of the haplogroup names used for the Chromo 2 test can be found here.

I was unable to translate the Welsh job titles in the list of credits at the end of the programme but, not surprisingly, I did not spot the names of any geneticists or historians. Dr Jim Wilson, the Chief Scientific Officer of ScotlandsDNA/BritainsDNA, was notable by his absence despite the fact that Llion Iwan, the Commissioner of Factual Content for S4C, had previously stated that Dr Jim Wilson was the chief scientist of the DNA Cymru project. Perhaps Jim Wilson is wisely trying to distance himself from his association with the company. He has already had his name removed from a book that he was previously scheduled to write with his business partner Alistair Moffat. The book The British: A Genetic Journey was published at the end of 2013 with Alistair Moffat listed as the sole author.

I cannot understand how such a programme ever got the go ahead. The embarrassing lack of science and the blatant promotion of a commercial company reflect very badly on the credibility of S4C as a public service broadcaster. The controversy has been highlighted in an article in the current issue of Private Eye Magazine (No. 1387, 6 March - 19 March 2015) which investigates the latest "hokum science" from "self-styled 'genetics expert' Alistair Moffat". Private Eye asks "How does the former journalist and TV executive get away with another commercial undertaking dressed as proper collaborative science?" They go on to speculate "Looks like he has again used his old boys' network, just as he did at the BBC. Ian Jones, chief executive of S4C, happens to be a mate."

The BBC have also clearly not learnt any lessons because they promoted DNA Cymru on two occasions last weekend though for once it was not Alistair Moffat who was being interviewed. Conveniently, Jason Mohammed, one of the presenters of the DNA Cymru series, hosts his own show on BBC Radio Wales, and he promoted DNA Cymru in his show on Friday 27th February. Jason interviewed John Geraint, the series producer, and Gareth Edwards, one of the celebrities who appeared on the programme. John Geraint inaccurately stated that there was "a lot of science" in the programme. He did acknowledge that a commercial company was being used but mistakenly claimed that the company could identify "where that individual's ancestral DNA comes from". The Jason Mohammed show is available on the BBC iPlayer. The relevant segment starts at around 38 minutes.

On Sunday 1st March Anwen Jones, another of the DNA Cymru presenters, was invited onto the Roy Noble show on BBC Radio Wales. Anwen Jones gave Roy Noble his DNA results on air and regaled him with some silly stories about his haplogroups. His Y-DNA haplogroup was G-Z759 which he was told was "Ancient Caucasian" (this is another one of the BritainsDNA haplogroup nicknames). His subhaplogroup is G2a which we were told represents the first people to bring farming to Europe though it is ludicrous to speculate that all the first farmers belonged to a single haplogroup. Roy Noble was then told that his mtDNA is haplogroup H1 which is given the nickname "Western refuges". He was told that H1 is from the Pyrenees and was possibly spread around Europe by Beaker folk. However, it is not possible to determine the origins of haplogroups in such a simplistic way and to associate their spread with specific cultures. The Roy Noble programme is also available on the BBC iPlayerThe relevant segment starts at around 1 hour 4 minutes.

It is very disappointing to see public service broadcasters being used to promote an individual's commercial venture, and even more so when that venture is disguised as a scientific research project. The almost total lack of credible science and the silly romanticised haplogroup stories serve to mislead the public about what genetics can and can't tell us about our ancestry. Such programmes undermine the work of serious scientists working in the field and also the efforts of genetic genealogists who are using DNA testing for legitimate purposes in combination with traditional genealogical sources. S4C should be ashamed of themselves.

Update 9th March 2015
Two more critical articles have been published about the DNA Cymru programme since I wrote this post.

- My colleague at UCL Professor Mark Thomas was interviewed by BBC Radio Wales and described the programme as an "embarrassment to science": http://www.bbc.co.uk/cymrufyw/31708205

- A blogger by the name of Jack o' the North independently came to the same conclusions as me about the commercial nature of the programme: http://jacothenorth.net/blog/are-you-welsh-ill-tell-you-for-250/

Update 10th March 2015
- The controversy over the DNA Cymru programme was discussed on S4C news (in Welsh) on 9th March. The segment starts at 5 minutes 39 seconds: http://www.s4c.cymru/clic/c_level2.shtml?programme_id=523846365

- There was also a lengthy discussion (in Welsh) on the current affairs show ‘Dan yr Wyneb’ on Radio Cymru on 9th March: http://www.bbc.co.uk/programmes/b054v7pj

Update 13th March 2015
The Raw Y-DNA test has now been restored to the product menu.

Related blog posts
- The saga continues - CymruDNAWales, S4C, the Tudor surname and "Who are the Welsh?"
My review of DNA Cymru Part 2 - the controversy continues
- My thoughts on DNA Cymru Part 3 and the significance (or lack thereof) of large genetic clusters

Footnotes
1. The Moffat Partnership previously used to offer a standalone Chromo 2 Y-DNA test for £189 and a Raw Y-DNA test for £129 which provided the raw data without the interpretative reports. A genetic genealogist friend advises me that he has been told that the Raw Y-DNA test is still available but you currently have to e-mail the company to place an order. He was told that they have recently updated their website and the Raw Y-DNA product will eventually be put back on the website.

2. For a good summary of the potential of ancient DNA testing and the limitations of Y-DNA and mtDNA testing for deep ancestry, see the paper by Joseph Pickrell and David Reich "Towards a new history and geography of human genes informed by ancient DNA".

© 2015 Debbie Kennett

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.

Related blog posts
- More on the S4C DNA Cymru controversy and my review of "Who are the Welsh?"
- My review of DNA Cymru Part 2 - the controversy continues

© 2015 Debbie Kennett

Friday, 14 November 2014

The ongoing saga of BritainsDNA and the BBC

I wrote back in March this year about yet another misleading interview with Alistair Moffat of BritainsDNA which had appeared on the Mark Forrest programme on BBC radio. I wrote to the BBC at the time to complain about the interview. Since then I've been engaged in a lengthy exchange of correspondence with the BBC. I eventually escalated my complaint to the BBC's Editorial Complaints Unit. They conceded that the interview did constitute "a breach of editorial standards". A summary of my complaint and of the findings of the Editorial Complaints Unit was published on the BBC Complaints website on 29th October. However, the summary was somewhat misleading and does not tell the full story. We've devoted a whole page on the UCL Debunking Genetic Astrology website to our correspondence with the BBC about Alistair Moffat and BritainsDNA. I've now added all my correspondence with the BBC dating from 1st May through to the present to our BBC complaints page in order to ensure that the information is available as a matter of public record for all interested parties.

It has been a somewhat frustrating and protracted process. Although the ECU classified my complaint as "resolved", the main substance of my complaint fell outside the ECU's remit.  I wanted to find out how Alistair Moffat had been invited onto the Mark Forrest show to talk on the subject of Viking DNA when he has no expertise in the subject. I was also concerned about the sheer amount of exposure given to Alistair Moffat and his company by the BBC in the last couple of years and the BBC's failure to give qualified experts the right to respond to his inaccurate, misleading and sometimes ludicrous statements. Richard Hutt, the BBC Complaints Director, advised me in an e-mail dated 1st May
However it isn’t open to me to look at the circumstances which led to Mr Moffat being booked to appear, or the question of whether others might have been booked instead. Generally speaking, the choice of guests is a matter of editorial discretion and does not fall within the remit of the ECU. In practice that means I can consider whether what was said during the broadcast met the BBC’s editorial standards but not whether the programme ought to have invited him to participate. 
You have also raised the issue of Mr Moffat’s appearances across the BBC over a number of years. Again, this falls outside our remit – we are limited to considering specific items broadcast or published by the BBC and are not able to investigate claims of editorial breaches over time and across output. I should also note that the complaints framework asks that complaints are logged within 30 days of broadcast, whereas most of the examples cited in the document you point to were aired some time ago.
In the final stage of the complaints process I sent an e-mail to the BBC Trust on 26th September asking them to investigate these outstanding concerns. I have been told that they will let me know by 21st November whether or not they will take up my case. It is somewhat frustrating that there is no mechanism within the existing BBC complaints framework to deal with such issues. I shall await with interest to see how the BBC Trust respond.


Saturday, 12 July 2014

Red hair and climate change

A number of newspapers this week, including The Independent, the Sunday Telegraph, the Daily Mail and the Huffington Post, reported on a ludicrous story suggesting that the gene associated with red hair could die out as a result of climate change. The source of this story appears to be an interview with "DNA expert... Dr Alistair Moffat, boss of genetic testing company ScotlandsDNA" published in the Scottish Daily Record. I have not been able to find any evidence that Alistair Moffat has a PhD in any subject and he does not seem to have any qualifications in genetics so it is somewhat surprising to find that he is described both as a doctor and as a DNA expert. Most unusually the story was supported by a quote from "another scientist, who asked not to be named because of the theoretical nature of the work". I do not ever recall seeing any story in the press before where a scientist insisted on retaining his or her anonymity, though it is perhaps understandable in view of the nonsensical nature of the theory.

ScotlandsDNA have since claimed that Alistair Moffat was misquoted, though they have not enlightened us as to what exactly Alistair Moffat is supposed to have said.

The science writer Adam Rutherford has written an excellent article for The Guardian, Relax, redheads. You're not about to die out, exposing the bad science behind the red hair and climate change theory. As a side note, I get a brief mention at the end of the article for my blog post debunking the story of  Prince William's "Indian" DNA. The Prince William story emanated from a press release from ScotlandsDNA's sister company BritainsDNA and, as with the red hair story, was picked up unquestioningly by a gullible press.


Friday, 7 March 2014

More pseudoscience from Alistair Moffat on the BBC

It is ironic that on the very day it was announced that the BBC had upheld a complaint about a misleading interview given by Alistair Moffat on the BBC Radio 4 Today programme, the BBC decided to give him yet another opportunity to promote BritainsDNA, his genetic ancestry testing business. His latest interview was on yesterday’s edition of the Mark Forrest show on BBC Local Radio. You can listen to the interview for the next six days on the BBC iPlayer. Here is the direct link:

http://www.bbc.co.uk/programmes/p01s6pt4

The interview starts at around 2 hours four minutes and thirty seconds.

Once again the for-profit nature of Britains DNA is disguised. Alistair Moffat is introduced as “a historian and the managing director of BritainsDNA, a project set up to map DNA across the British Isles”. Although Moffat does make it clear that people have to pay for the DNA tests he gives the false impression that all the profits are ploughed back into the company for research purposes: “What we do when people pay for a test is we plough what we get from customers back into research.” We have yet to see any "research" from BritainsDNA published in a peer-reviewed scientific journal.

The interview is full of inaccurate statements and misleading claims. Here are some examples:
“What we have discovered, Mark, is that Viking blood still runs very deep in Britain. We’ve done research recently where we’ve looked at the [Y-chromosome] DNA of 3500 men and we think that almost a million men in Britain – one in every 33 British men –  can claim to be the direct male-line descendants of the Vikings. And it’s extraordinary that that is so clearly present in the modern population.” 
“We can tell when it [the Y-chromosome marker] arose… where it arose, and we can sometimes track its movement.” 
“I have Scandinavian DNA, and it comes from Northern Denmark and from Norway so I’m a Viking and I know that because I did a test which looked at my Y-chromosome and it was able to track it back to Scandinavia and because it was attached to a historical event I’m pretty sure that I came over with the Vikings.” 
“If you have Viking DNA we can tell you.” 
“I haven’t got much hair and I’m not blond but I’m still a Viking.” 
“My mitochondrial DNA from my mum is from Pakistan 30,000 years ago – quite remarkable – and her ancestors made this extraordinary trek across the face of the earth to get to Scotland from Pakistan.”
All of the above is of course complete nonsense. It is not possible to tell where any specific “marker” arose thousands of year ago simply by testing the DNA of living people. We can get a good idea of the present-day distribution of Y-chromosome and mtDNA lineages but the present-day location of a lineage does not necessarily correlate with its distant origins.

For further information on the reasons why we cannot make these extrapolations from Y-chromosome and mitochondrial DNA tests see the Understanding genetic ancestry testing page on the UCL website.

The BBC have either wittingly or unwittingly given Alistair Moffat and his BritainsDNA testing company a huge amount of free publicity in the last few years, and have failed to give any independent geneticists the opportunity to counter his ludicrous stories. See the PR attack on the BBC page on the UCL website to understand the full scale of the problem.

Update May 2015
The BBC have finally redeemed themselves and have produced an excellent documentary on Radio 4 introduced by Dr Adam Rutherford entitled "The Business of Genetic Ancestry". Some of the misleading claims from BritainsDNA are examined in the programme.

Related blog posts
- Alistair Moffat, BritainsDNA and the BBC - a "uniquely British farce"
BritainsDNA, the BBC and Eddie Izzard
The British: a genetic muddle by Alistair Moffat
BritainsDNA, The Times and Prince William: the perils of publication by press release

Thursday, 6 March 2014

Alistair Moffat, BritainsDNA and the BBC - a "uniquely British farce"

After a prolonged and frustrating complaints process, the BBC has finally upheld a complaint brought by my colleague Professor David Balding of University College London (UCL) about the now infamous radio interview on the Today programme between Jim Naughtie and Alistair Moffat, the Managing Director of BritainsDNA and the current Rector of St Andrews University. The interview was deemed to be in breach of the BBC’s guidelines on both "accuracy" and "product prominence". Fraser Steel, Head of Editorial Complaints, writing on behalf of the BBC, conceded that Alistair Moffat “spoke in terms which either went beyond what could be inferred with certainty from the evidence or were simply mistaken” and that “some of the terms used on this occasion conduced to an exaggerated impression of what was possible”. He considered that “the programme-makers should have done more to guard against this”.

With regards to the issue of product prominence Mr Steel concluded: "it seems to me that Mr Moffat’s statement that 'we subsidise it massively' may have contributed to an impression that it [BritainsDNA] was a disinterested research study (an impression which Mr Naughtie’s description of the company as a 'DNA database' and this reference to 'people who give their DNA for the project' would have done nothing to dispel)... it seems to me that the reference to the website amounted to undue prominence for what is in fact a commercial organisation..."

The BBC have promised to put a summary of the outcome of the complaint on their Complaints Website, together with the actions they propose to take in response to the finding. We have been informed that this is the responsibility of the News Department, and that the summary and actions should be published within the next couple of weeks. In the meantime there is a brief account of the story in the latest issue of Private Eye (No. 1361, 7 - 20 March 2014, p13). (Update: The summary of the upholding of the complaint was finally published on the BBC's Editorial Complaints Unit's website on 15th April 2013 and can be found at: http://www.bbc.co.uk/complaints/comp-reports/ecu/today9july2012radio4. A summary has also been provided as a Correction and Clarification.)

Although not disclosed by the BBC in the Today interview, Alistair Moffat and Jim Naughtie are old friends. Jim Naughtie publicly endorsed Alistair Moffat's bid to become Rector of St Andrews. The issue of this conflict of interest is still under investigation by the BBC but is being handled by management in the BBC News Department. David Balding was advised on 20th February that he can expect a response within 20 working days. Somewhat surprisingly, Mr Steel advised that Jim Naughtie was "unaware of the financial structure of BritainsDNA at the time of the interview", but even if Naughtie did not know of the commercial interests there seems to be no excuse for his failure to ask more probing questions in response to his friend's ludicrous claims.

However, the most troublesome aspect of this whole affair has been Alistair Moffat’s use of legal threats in an attempt to silence legitimate criticism and stifle public scientific debate. Professors David Balding and Mark Thomas at UCL wrote privately to the then BritainsDNA scientists expressing their concerns about the Today interview. They were subsequently the recipients of a threatening letter from Alistair Moffat's solicitor, but bravely held their ground and eventually went public with their concerns, after failing to get a satisfactory response to private e-mails. Students writing for The Saint, the St Andrews University student newspaper, were similarly intimidated by threats to sue when they tried to cover the events, but they courageously ignored the threats and went ahead and published their story. Although much of the affair is already in the public domain, the full facts have not been revealed. Now, to coincide with the upholding of the BBC complaint and for the sake of transparency and public interest, a new UCL website has been launched which documents the events in full and provides links to all the relevant correspondence, including all the legal threats and the complaints to the BBC. The website can be found here:

www.ucl.ac.uk/mace-lab/genetic-ancestry

I hope that anyone else who has been similarly intimidated by threatening legal letters will take inspiration from this case and will be encouraged to stand up for their principles.

It is interesting to note that this is not the first time that Alistair Moffat's attempts to take legal action have backfired on him. In 1999 he lost a £25,000 defamation case that he brought against the West Highland Free Press. He objected to being described as ''the Laird o' Coocaddens' in-house bully'' in the newspaper's diary column. The judge "did not accept that the article... was attacking Mr Moffat's private character or business reputation, or that the words were capable of being read that way" and he dismissed the action.

Nature memorably described the Moffat/UCL case as “a messy and perhaps uniquely British farce”. The affair highlighted the antiquated English libel laws which, rather than protecting the interests of society, had the effect of restricting free speech and suppressing academic debate. Following nearly five years of campaigning by the Libel Reform Campaign, Sense About Science, and other organisations and individuals, a new Defamation Act came into force in England and Wales on 1st January 2014. Although it remains to be seen how the new law will be interpreted in practice, it seems likely that it will have the effect of restricting such trivial and vexatious claims. If the new Defamation Act had been in force at the time of the Moffat/Naughtie interview it is quite possible that the whole sorry saga would never have happened.

The new UCL website also highlights some of the problems with the haplogroup stories provided by BritainsDNA, but it should be noted that BritainsDNA is not the only genetic ancestry company providing misleading stories. Furthermore, there have been many papers published in the peer-reviewed scientific literature which make similar subjective and unsubstantiated claims about the origins of Y-chromosome and mitochondrial DNA haplogroups. Advances in ancient DNA testing and the new next-generational sequencing tests, which will provide ever-greater resolution of the Y-chromosome and mitochondrial DNA trees, will no doubt expose the deficiencies in previously proposed hypotheses. It is perhaps time for a wider scientific debate on the legitimate inferences which can be made from deep ancestry tests.

Related blog posts
- More pseudoscience from Alistair Moffat on the BBC
- BritainsDNA, the BBC and Eddie Izzard
- The British: a genetic muddle by Alistair Moffat
- BritainsDNA, The Times and Prince William: the perils of publication by press release

© 2014 Debbie Kennett

Monday, 16 December 2013

The British: a genetic muddle by Alistair Moffat

The British: A Genetic Journey is the latest book by Alistair Moffat, the co-founder of the DNA testing companies BritainsDNA, ScotlandsDNA, IrelandsDNA and YorkshiresDNA. Moffat was previously the Director of the Edinburgh Fringe Festival and Director of Programmes at Scottish Television. He currently also serves as the Rector of St Andrew’s University. Moffat’s business partner is James Wilson, who works at the Centre for Population Health Sciences at the University of Edinburgh, and is BritainsDNA’s chief scientist.

According to the pre-publication publicity from the publisher Birlinn Books the book was originally planned to be written by both Alistair Moffat and James Wilson with the comedian Eddie Izzard lined up to write the foreword. It was originally scheduled for publication in March 2013 to coincide with the screening of the BBC programme Meet the Izzards in which Eddie Izzard, with the aid of Jim Wilson, went on a journey to explore his deep ancestry though DNA testing.

For whatever reasons the book was obviously extensively delayed but it was eventually published at the beginning of November. Until fairly close to the publication date the book was shown on Amazon.co.uk and other websites with both Jim Wilson and Alistair Moffat as co-authors and with the advertised foreword from Eddie Izzard. An example of the old cover can be seen here.

I was therefore somewhat surprised when I received my copy of the book from Amazon to find that Alistair Moffat was listed as the sole author. I could not find Jim Wilson’s name mentioned anywhere in the book. Furthermore, the long-promised foreword from Eddie Izzard is notable by its absence. Eddie Izzard similarly doesn’t get a mention in the book despite the fact that BritainsDNA did the DNA testing for Meet the Izzards and even went to the trouble of setting up a dedicated IzzardsDNA website.

The book is described on the dustjacket as being “based on exciting new research”. Having now read the book I’m at a loss to understand quite what this exciting new research actually is. The book itself mostly focuses on history and pre-history, with a heavy emphasis on pre-history, and there is very little on genetics. The genetics component largely consists of summaries of a small selection of genetics papers combined with a rehash of the many press releases issued by BritainsDNA over the last few years, some of which have attracted publicity in the British media.

Chapter 6 covers the Roman occupation of Britain. Alistair Moffat read out large extracts from this chapter during his lecture at Who Do You Think You Are? Live in February 2013.  I wrote about the misconceptions in this talk at the time. Sadly nothing has changed and no new evidence is offered.

In Chapter 9 on “The Royal British” we are regaled with the story of Prince William’s supposed Indian ancestry. This story was published in an advertorial in The Times newspaper in June this year and I discussed the problems with this research in an earlier blog post. Unfortunately, the book adds no further evidence to support the claims.

The casual reader of the book who is not familiar with the scientific literature will possibly have difficulty distinguishing between the genuine research published in peer-reviewed scientific journals and Alistair Moffat’s own somewhat unique take on our ancestral origins. There is not a single reference in the book and it is therefore not clear which genetics findings are based on peer-reviewed research, which sections are based on BritainsDNA’s unpublished research, and which sections are merely Moffat's own speculations. Some of the more ludicrous interpretations appear to be the product of Moffat’s fertile imagination.

The reader who is not familiar with the basics of genetic genealogy will probably also be somewhat confused by Moffat’s rather muddled terminology and his highly romanticised and at times laughable interpretations of our genetic history. He appears to have a very limited understanding of genetics. Confusingly he uses the word “marker” to describe both haplogroups (the branches of the human Y-chromosome DNA and mitochondrial DNA trees) and the markers known as SNPs – single-nucleotide polymorphisms –  that define those branches. For example, the mtDNA haplogroup L3 is described as being “a marker labelled L3”. This is particularly misleading for mitochondrial DNA because haplogroups are sometimes defined by several SNPs and, as can be seen on Phylotree, there are in fact three markers commonly used to define L3. Furthermore, especially for mtDNA, the same SNPs can occur in parallel in different haplogroups.

Moffat has a touching but misguided faith in the “ability of scientists to identify the origins and dates of DNA markers and to use them to track the movement of people across the Earth”. He tells us that “The dim and very distant prehistoric past can come brilliantly and movingly alive when the passage of a marker is traced from Manchuria and the shores of the Yellow Sea in the North Pacific clear across the Eurasian landmass to be found in Edinburgh in 2013.”  He attempts to correlate specific "markers" (more correctly, haplogroups) with ethnic groups or tribes such as the Vikings, the Picts, and the Maetae based on the flimsiest of evidence, conjuring up pictures in the reader’s mind of little bands of haplogroup armies migrating in unison in order to preserve the integrity of their markers. Unfortunately our genetic ancestry is somewhat more complicated than that. The problems of making such simplified interpretations and assigning arbitrary labels to groups and cultures are nicely summarised in Sense About Genetic Ancestry Testing, a pamphlet published earlier this year by Sense About Science.

Moffat unfortunately makes no attempt to explain any of the marker names and labels that he uses and provides no resources where the reader might seek clarification. The problem is readily apparent in the opening chapter of the book where Moffat’s imagination runs riot with the descriptive names used for the genetic groups that he describes:
     "On any London Monday morning packed trains rattle into King’s Cross, Euston, Cannon Street and Waterloo. The brakes hiss, the doors open and Saracens, Saxons, Berbers, Cave Painters, Vikings, Angles and Picts pour out onto the platforms. On any Saturday afternoon at Ibrox, St James’s Park, Old Trafford and Anfield crowds of Caledonians, Deer Hunters, Kurgans, Iberians, Rhinelanders and Anatolians roar on their teams, passionate in support, their sporting allegiances central to their identities. On any weekday morning all over Britain the school run delivers the children of the First Farmers, the Shell Collectors, the Foragers, the Shebans and the Yenesei to the gates of the playground.
     These are the British, named by their DNA markers, all of them immigrants, all of them descendants of men and women from somewhere else, from the distant, shadowy millennia of deep time, the survivors of many epic journeys lost in the darkness of the past."
The names he uses here are in fact the nicknames that BritainsDNA assigns to the various Y-DNA and mtDNA haplogroups and their sub-branches. There is a page in the ISOGG Wiki which provides a translation of the BritainsDNA nicknames for the Y-DNA haplogroups, but such names have no scientific basis. Furthermore, the ancestry we inherit on the Y-chromosome line (males only) and the mitochondrial DNA line represents only a decreasing fraction of our total ancestry as we look further back in time.

BritainsDNA mostly use their own proprietary S series names for the Y-SNPs that define the male-line branches of the tree, and these marker names are used throughout the book. A full list of the alternative and better known SNP names can be found in the ISOGG Y-SNP index.

In Moffat’s confused and simplified version of our genetic ancestry “Only 1.5% of all British and Irish Y-chromosome markers, principally M26 [the SNP that defines haplogroup I2a1a] from the ice age refuges and S185 [also known as L161.1, the SNP which defines haplogroup I2a1b2] from across Doggerland, certainly predated the arrival of the farmers c4000 BC, and a further 3.5% may have done.” We are then told that “Archaeology and DNA appear to agree on the origins of the vast majority of the incomers to Britain and Ireland after c4200 BC, those enriched for the G lineages.” The reason for this is supposed to be that the Y-chromosome “marker” of Ötzi the Iceman is “in the haplogroup G and it makes a clear link with the development of farming in Europe.” He then adds: “Almost certainly, those who carried the G markers sailed to Britain and Ireland in groups.”

The true story is of course much more complicated than that, and scientists and archaeologists don't have all the answers. There is no general agreement as to when and, most importantly, where the various haplogroups originated. There is also no evidence that any haplogroup was exclusive to any particular ethnic group in the past. Ancient DNA analysis and comprehensive Y-chromosome sequencing will provide further insights. Only a limited number of Y-DNA samples have been extracted from ancient DNA specimens to date. Richard Stevens provides a useful map showing the location of the finds together with details of the associated scientific papers where the results were published. Note that no ancient Y-DNA samples have yet been analysed from the British Isles. Comprehensive Y-chromosome sequencing is still in its infancy though we can expect to see a flood of new results in 2014 from genetic genealogists who have taken the state-of-the-art comprehensive Y-DNA sequencing tests. And of course the Y-chromosome markers, which are the primary focus of Moffat's book, only tell us about our ancestry on the fatherline or patriline, which represents only a small percentage of our total ancestry.

At times the prose is so melodramatic as to be unintentionally hilarious. For example, Moffat correctly notes that R1b-M269 is the most common haplogroup in Europe, and that it increases in frequency from east to west, but then goes on to offer the following explanation for the dominance of R1b (pages 99-100):
     "This increase in frequency from east to west obviously shows the direction of travel and the marker’s origins. R1b-M269 is the DNA of a second wave of farmers and as this revolutionary way of life, of producing food, washed across Europe, this marker, which first arose in the Near East, became tremendously widespread. And its dynamic movement to every corner of the continent shows something unarguable, that this new wave of farming and farmers was not a process of acculturation or adoption. Rather, it was the cultural cargo of an invasion, the deposit of a takeover by new people, the bearers of the marker of R1b-M269.
     Recent research has dated the origin of the cluster of R1b Y-chromosome markers to the middle of the third millennium BC and attached its dramatic spread across Europe to the advance of the Beaker People. And it seems that there was conflict, perhaps even something close to genocide. When the carriers of the R1b lineages arrived in Britain and Ireland, they took over, and this process must have involved the elimination of many of the men who carried the G lineages of the first farmers." 
Y-DNA haplogroup G is indeed the predominant haplogroup found in the very limited range of ancient DNA samples from the Neolithic period and only one R1b sample has been published to date, but we cannot extrapolate from 40 or so samples and conclude that all of the first farmers were haplogroup G. The published scientific papers on R1b are in fact contradictory and do not agree on the date of the origin of R1b. Mass genocide is one far-fetched hypothesis to account for the present-day dominance of R1b in Europe, but it is equally possible that R1b has spread dramatically purely by chance. Moffat is seemingly unaware of the work of his Chief Scientist, Jim Wilson, who was one of the authors of a recent paper entitled The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269 (Busby GBJ, Brisighelli F, Sanchez-Diz P et al. Proceedings of the Royal Society B 2012; 279: 884–892) in which the authors concluded that "the existing data and tools are insufficient to make credible estimates for the age of this haplogroup, and conclusions about the timing of its origin and dispersal should be viewed with a large degree of caution". A recent paper by Sikora et al in Investigative Genetics (2013; 4: 25) entitled Modeling the contrasting Neolithic male lineage expansions in Europe and Africa provides a summary of the contrasting findings in the literature. The authors use a simple demographic model which suggests that "in Europe, the R1b lineage experienced an extremely rapid and extensive increase as soon as it entered the continent, expanding more than a thousandfold in a few generations".

The lack of basic research that has gone into the genetics aspects of the book is evidenced in the statement in the final chapter on Comings and Goings: “Near Eastern markers can be distinguished in the modern population of Britain but specifically Jewish DNA is hard to find.” Moffat goes on to provide an outdated description of the Cohen Modal Haplotype, but seems to be blissfully unaware of the large number of scientific studies investigating “Jewish” DNA. It has been found that there are a number of Y-DNA and mtDNA subclades that are almost exclusively confined to people with Jewish ancestry. This oversight might perhaps explain why, as I wrote in an earlier blog post, his company mistakenly ascribed a Japanese origin to an Ashkenazi Jewish customer.

Some of the genetic findings he discusses may be more plausible, but it is a shame that the company’s scientists have so far failed to publish any of their research. I do not feel qualified to comment on the historical content which comprises the majority of the book. This subject matter might well be of interest to the general reader who wishes to have an overview of British history and pre-history. However, the lack of references is a cause for concern, especially in view of the fact that Moffat has a background in journalism rather than academic research.

However, if you are interested in the genetic history of the British then I regret that this genetic jumble of a book cannot be recommended. I can only think that Jim Wilson and Eddie Izzard are very grateful that they do not have their names associated with it.

Note
Despite my reservations about Alistair Moffat's book, please note that the Chromo 2 test offered by his company BritainsDNA is a credible and useful test for males wishing to explore their deep ancestry and who would like to have a detailed Y-DNA haplogroup assignment. There are also a number of other tests on the market at varying prices. For details see the ISOGG Y-SNP testing chart. For an explanation of the different deep ancestry tests and possible future developments in this fast-changing market see my article on a confusion of SNPs. Y-SNP testing is best co-ordinated through a Y-DNA haplogroup project. Please note that Y-SNP tests do not currently have a direct application for genealogy. For information on suitable tests for genealogical purposes see the beginners' guides to genetic genealogy in the ISOGG Wiki.

See also
Genetic astrology: a tale of misleading claims and legal threats

Related blog posts
- BritainsDNA, the BBC and Eddie Izzard
Alistair Moffat, BritainsDNA and the BBC - a "uniquely British farce"
More pseudoscience from Alistair Moffat
BritainsDNA, The Times and Prince William: the perils of publication by press release

© 2013 Debbie Kennett