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

Friday, 27 November 2015

Full Genomes winter discount

Full Genomes Corporation have announced a winter sale (or summer sale if you're in the southern hemisphere!). The tests offered by this company are suitable for the very advanced genetic genealogists in our community.

There is a $100 discount on the Y Elite test if you use the following code:

Winter15FGC

This brings the price down to US $675.

The Y Elite is a comprehensive Y-chromosome sequencing test, which is used for the discovery of new SNPs. It is currently the most advanced Y-DNA test on the market, and the only next generation sequencing Y-DNA test which offers a read length of 250 bps.

If you're thinking of taking a Y Elite test it's best to make sure that you join the appropriate Y-DNA haplogroup project so that you can share your results with the volunteer admins.

There are also discounts on the whole genome sequencing tests from Full Genomes. A report on the Y-chromosome is included with this test, but the autosomal DNA results are provided without medical interpretation or advice. However, users can upload their data to third party tools such as Promethease, which accepts VCF files from Full Genomes.

The 30x whole genome is now $1600 (reduced from $1850), a saving of 13.5%

There is a 10% reduction on the other whole genome sequencing tests:

10x is $670 instead of $745
4x   is $337 instead of $375
2x   is $225 instead of $250

These offers are only available for a limited time so if you are thinking of ordering don't delay.

For further information about any of these tests contact Full Genomes via their website at www.fullgenomes.com.

For a comparison of the different SNP testing options see the ISOGG Y-SNP testing chart.

AncestryDNA sale for the "Black Friday" weekend

AncestryDNA have announced a flash sale for what is now known as "Black Friday", the day after the American Thanksgiving holiday. The AncestryDNA test is on sale in the UK for £69 plus £20 for shipping so it will cost you £89 in total. The sale lasts until 11.59 pm GMT on 30 November. This is the lowest price ever for the AncestryDNA test in the UK. For further information go to: http://dna.ancestry.co.uk


Ancestry also has sales on in Australia, Canada and the United States. Here are the prices and the links to the various country websites:

- Australia AUS$119 + $29.99 for shippinghttp://dna.ancestry.com.au 

- Canada CAD$119 + $19.95 shipping http://dna.ancestry.ca

- United States US$69 + $9.95 for shipping: http://dna.ancestry.com

It will not escape anyone's attention that the AncestryDNA test is considerably cheaper in America than in any other country.

AncestryDNA is one of three companies that offer an autosomal DNA test for genealogy purposes. See Tim Janzen's autosomal DNA testing comparison chart in the ISOGG Wiki for a detailed comparison,

Family Tree DNA currently have a sale on until the end of the year. Their Family Finder autosomal DNA test is on sale for  US$ 89 +$9.95 for shipping. This works out at £67 in sterling prices. For details of the sale prices of the other FTDNA DNA tests see my blog post FTDNA Group Administrators' Conference 2015 and the FTDNA winter sale.

If you test with AncestryDNA you can transfer your results to Family Tree DNA using the autosomal DNA transfer programme. This will cost US $39, and is the cheapest way to be in the two databases. AncestryDNA do not accept transfers from Family Tree DNA.


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

Friday, 20 November 2015

FTDNA Group Administrators' Conference 2015 and the FTDNA winter sale

Family Tree DNA Group Administrators' Conference 2015
The Family Tree DNA group administrators' conference took place last weekend. Jennifer Zinck has written two very detailed summaries of the two-day event which include news of forthcoming developments at Family Tree DNA:


- 11th International Conference on Genetic Genealogy – Sunday

A very detailed report with lots of photos has also been provided by Roberta Estes:


The slides for most of the presentations are available on the Family Tree DNA Slideshare account:


Family Tree DNA Winter Sale
It was also announced at the close of the conference that the Family Tree DNA winter sale has now started. The sale will end at 11.59 pm Texas time on 31st December 2015. A list of the sale prices can be found below.

YDNAStandard PriceGroup PriceSale
Y12$59 not on sale
Y25$109 not on sale
Y37$169 $149 $139
Y67$268 $248 $228
Y111$359 $339 $309
YDNA UpgradesStandard PriceSale
Y12 - 37$119 $99 $79
Y12 - 67$209 $189 $151
Y12 - 111$359 $339 $271
Y25 - 37$69 $49 $39
Y25 - 67$168 $148 $118
Y25 - 111$269 $249 $199
Y37 - 67$119 $99 $79
Y37 - 111$240 $220 $176
Y67 - 111$149 $129 $103
Big YStandard PriceSale
Big Y$575 $525
Family FinderStandard PriceSale
FF$99 $89
mtDNAStandard PriceSale
mtDNA+$69 not on sale
mtDNA FullSeq$199 $169
mtDNA+ to FullSeq$159 $149
SNP PacksStandard PriceSale
SNP Packs$99, $119$10 off each pack

To convert the US dollar prices into your local currency you can use the XE Currency Converter.

FTDNA are also releasing special discount codes on a weekly basis every Monday to existing FTDNA customers. These codes can be shared with family and friends, and offer additional savings of up to $75.

Someone on the ISOGG DNA Newbie list has very kindly compiled a collaborative spreadsheet on GoogleDocs where people can post their spare discount codes so take advantage of these special offers to get the best available price. The spreadsheet is shared with permission and can be found here.

If you've not already take a DNA test or if you want to order a test for a friend or family member then now would be a very good time to do so!

Tuesday, 10 November 2015

Ten years since the end of donor anonymity: have we got it right?

Last week I attended a public meeting organised by the Progress Educational Trust to mark the 10th anniversary of the change in the law in the UK which gave donor-conceived people the right to access information about their birth once they reach the age of 18. The meeting 10 years since the end of donor anonymity: have we got it right? was held at the Institute of Child Health in London. I've shared below my notes from the meeting and some of my photos. It is a very important subject and these issues should be the subject of a much wider debate.

Sarah Norcross, Director of the Progress Educational Trust, opened the meeting and introduced Charles Lister, the Chairman of the National Gamete Donation Trust, who was chairing the meeting.
Sarah Norcross from the Progress Educational Trust opens the meeting and introduces Charles Lister.
Charles Lister described the evening as an event celebrating ten years since the end of donor anonymity. He shared a moving quote from a 2004 speech by Melanie Johnson, the then Minister of Public Health:
"Clinics decide to provide treatment using donors; patients make a decision to receive treatment using donors; donors decide to donate. Donor-conceived children, however, do not decide to be born – is it therefore right that access to information about the donation that led to their birth should be denied to them?"
The new law ending the right to donor anonymity in the UK came into effect on 1st April 2005. Prior to the change it was predicted that there would be a drop in the number of donors coming forward, but that hasn't come to pass though there are still not enough donors.  Children conceived before that date can access their data if the donor makes the information available. Lister emphasised that the rights of the children should be the prime consideration.

Five panellists were given the opportunity to make a seven-minute presentation and this was followed by an extended session in which members of the audience were invited to comment and ask questions of the panellists.

Juliet Tizzard,  Director of Strategy at the Human Fertilisation and Embryology Authority (HFEA)
Juliet Tizzard presented data showing that the number of newly registered sperm donors has increased between 2004 and 2014.
Jo Tizzard: How many people donate?
She told us that donors can retrospectively remover their anonymity. One third of the sperm used in the UK is imported from overseas, primarily from the US. Denmark is the next biggest contributor. There were 2050 babies born in the last year as a result of sperm and egg donation. HFEA have services available to talk to people about what they might expect from the treatment. She also presented figures showing the number of information requests over the last four years. To date 151 donors have removed their anonymity. Eighty-seven donor-conceived people have joined Donor Sibling Link.
Juliet Tizzard: Information requests.
Joanna Rose, donor-conceived person
Joanna Rose was conceived from an anonymous donor conception in the 1970s. It was largely thanks to a legal challenge she brought in 2002 regarding the disconnection between the identity and the genetic kin of donor offspring that the law on donor anonymity was changed. Joanna has completed her PhD A Critical Analysis of Sperm Donation Practices. A copy of the thesis can be downloaded from the Confessions of a Cryokid blog. Joanna began by citing the words of a song written by Kevin Staudt on his experience of growing up as a donor-conceived child and the search for his father.
Jo Rose: The words of Kevin Staudt's song "Novum".
 Prior to the event Jo had requested that all attendees watch a recording of Kevin's song. You can listen to the recording on YouTube.


Joanna gave a powerful and heartrending speech about the pain of being a donor-conceived person. She spoke of her friend Narelle Grech who campaigned for fifteen years against donor anonymity in Australia. Narelle was diagnosed with Stage IV stomach cancer, but she was lucky to find her biological father just six weeks before she died.

Joanna told us that she had no support when she brought her court case, and she used up all her inheritance money to bring the action. When she asked about her father she was told that he was an "irrelevant third party". Jo pointed out that donor-conceived children do not have any representation on HFEA. Consequently HFEA have no accountability. She claimed that many HFEA members have a conflict of interest because of their work with the infertility industry. Jo concluded by recommending that we should change from adult to child-centric practices. There must be multi-disciplinary protections to counter the conflict of interests from the infertility industry and its users. Services need to be provided to help address the problems of donor offspring.
Jo Rose: Conclusions and recommendations.
Eric Blythe, Emeritus Professor of Social Work, the University of Huddersfield
Eric Blythe commented that the change in the law is only the first step. We now have a situation where different categories of donor-conceived people have different rights depending on the date of donation. There were 21,000 infants born between 1991 and 2004 before the law was changed. HFEA hold the records but donor-conceived people can't access the donor's ID. There are an unknown number of donor-conceived children born before 1991 where no records may exist. If it is considered right that donor-conceived people born after 2005 should be able to learn their donor's ID, should this right not be extended to all donor-conceived people?
Eric Blythe: Moving forwards
The traditional response has always been that donors who donated prior to 2005 consented on the basis of anonymity. Retrospective disclosure without their consent would be an unreasonable breach of their privacy. However, this means that the donors' rights trump the rights of the donor-conceived person. There is no reason why these potentially conflicting rights should be prioritised in this way and why all donor-conceived people should not be treated equally as far as is humanly possible.
In Victoria, Australia, the right to donor anonymity was rescinded retrospectively. (We were later told that this law is known as Narelle's Law in memory of Joanna Rose's donor-conceived friend Narelle Grech.) There is no reason why other jurisdictions should not follow the lead of Victoria.

Venessa Smith, London Women's Clinic and London Sperm Bank
Venessa stood in at the last minute for the advertised speaker Jo Adams who was unable to attend because of a family crisis. Venessa spoke about how the change in the law had affected fertility clinics. Donor applications plummeted due to rumours in the press and some of the smaller banks closed down. There is less donor availability and longer waiting lists. Patients are reluctant to use UK donors due to the ambiguity and consequently there are more overseas imports.

The people coming forward to be sperm donors are different today. The focus is much more on the donor experience. In the past men used to donate for "beer money". Now young professionals with families are donating altruistically. Pre-2005 the focus was on a successful outcome. Now the focus is on the welfare of the child.

Susan Golombok, Professor of Family Research and Director of the Centre for Family Research, the University of Cambridge
Susan Golombok reviewed the last 30 years of research on donor conception. The European Study of Assisted Reproduction Families was the first longitudinal study of donor insemination (DI) families. There were 111 DI families included in the study from the UK, Spain, Italy and the Netherlands. The children were all born in the 1980s. The families were assessed when the children were aged six, twelve and eighteen. At the age of six not one of the families had disclosed the donor conception to the child. At age twelve fewer than 10% of the parents had disclosed the information. At eighteen no further parents had disclosed.

The UK Longitudinal Study of Assisted Reproduction Families was conducted 15 years after the first study. The researchers looked at 50 DI families and 51 egg donation families. The parents were interviewed when the children were one, two, three, seven, ten and fourteen. The children who were aware of their donor conception were interviewed at seven, ten and fourteen years. At age one 56% of egg donation parents and 46% of DI parents planned to disclose donor conception to the child. By age seven only 39% of egg donation parents and 29% of DI parents had done so. Seven is the key age when most adopted children become aware of their adoption. By age fourteen 67% of egg donation parents and 41% of DI parents had disclosed. However, some parents who said they had told their children had only partially disclosed.
Susan Golombok: Donor conception research findings.
The children's reaction to disclosure varied from lack of interest to curiosity but no child responded in a negative way. No parents regretted disclosure. However, just because the parents say they have disclosed it doesn't mean that the child understands the implications. Also, although parents generally tell their children that they were conceived by in vitro fertilisation they often don't reveal that the child was born by egg or sperm donation.

Susan Golombok then shared some slides showing children's understanding of donor conception at age seven and age ten, and how they felt about being donor conceived. Although the children claimed to feel fine, it was notable that many of them had not discussed the issue with their friends. One ten-year-old girl said:  "That's the only secret that I haven't told any of my friends because I don't really want anyone to know". At age fourteen their feelings ranged from lack of interest to curiosity about the donor's characteristics. They did not reject their father. The lack of genetic relatedness was insignificant in terms of their feelings for him.

Finally Susan Golombok shared the findings from a study of children born following the removal of donor anonymity. Forty-seven two-parent families and 31 solo-mother families with children aged between four and seven years were included in the study. Sixty-four percent of  two-parent families had not disclosed and 45% of solo-mother families had not disclosed. Almost all solo-mother families planned to disclose. Of the two-parent families who had not disclosed around half were uncertain about disclosure or were not planning not to tell.

Audience questions and panel responses
A heated discussion followed the presentations. The first questioner, Elizabeth Howard, a donor-conceived person, raised a number of issues about Susan Golombok's research. The sample sizes were all very small. All her research has been done on children up to the age of 18, and had generally presented a fairly rosy picture of donor conception. However, no research has been done on donor-conceived adults, yet it is adults who are often the most affected by these issues. People only start to wonder about their heritage when they start a family or in later life. A court case has established that some of the research was a breach of human rights and that proper consent had not been obtained from the children. It was also suggested that Golombok's research was biased because some of it is supported by the fertility industry. One study was funded by Stonewall. In contrast, there is no money for supporting donor-conceived adults. Golombok robustly denied that there was a conflict of interest. Whatever the truth of the matter it is clear that there is an urgent need for research to be done on the long-term effects for donor-conceived adults. I suggested that it should be possible to make use of the large 23andMe database which now has records for over one million people. 23andMe would easily be able to identify through questionnaires a large cohort of sperm-conceived adults in their database who would be interested in participating in research. Unfortunately there seems to be a general lack of funding available to support such research.
The panel. From left to right: Juliet Tizzard, Susan Golombok, Jo Rose, Venessa Smith and Eric Blythe.
Jo Rose commented that donor conception is human experimentation which has been done without the consent of the child and it is a violation of human rights.  Donor-conceived children do not even have the same basic rights as adoptees. In 1975 the law was changed so that adopted children have the right to access their birth information but this privilege was only granted to donor-conceived children in 2005.

Gerard, a donor from New Zealand, has six donor offspring. Anonymity was removed in New Zealand in 1990. He did not think that the law should be changed retrospectively but suggested that there should be a public campaign for donors to come forward. However, with the increasing availability of genetic ancestry testing and the ever-growing genetic genealogy matching databases, donor anonymity can no longer be guaranteed. With a match with a close cousin up to about the third cousin level it is often possible to trace the genealogy forwards to identify a likely candidate for a biological father. As many children were not told they were donor conceived people should also be prepared for family secrets being revealed unexpectedly as a result of a commercial genetic ancestry test. (For an example of one such case see the story of Thomas Lippert, an artificial insemination nightmare that was revealed by genetic ancestry testing. Further coverage of the story can be found here.)

The Children's Act specifies that the rights of the child should always come first. However, despite the change in the law there is no legal requirement for parents to tell their children that they are donor-conceived. There is a divorce in reproductive research between the best interests of the child and the interests of the parents and the fertility clinics. Some clinics actively encourage women to go abroad. The parents don't realise that the laws are different overseas.

Emma Cresswell, a donor-conceived child, made a strong case for the need to reform the birth registration system. She proposed that the information about the biological father and the adoptive should be recorded on the child's birth certificate. The clinics must insist that the parents tell the children. Emma was the first donor-conceived person in Britain to have her father's name struck off her birth certificate. She doesn't know the name of her biological father and the space is now a blank.

Parents of donor-conceived children and those working in infertility research were more cautious about legislative changes. It was suggested that parents should be given encouragement to tell their children before conception. They should talk to the child about their conception as soon as as they are born. Juliet Tizzard suggested that parents should be given the tools to build up their confidence to tell the child.

Conclusions
The subject of donor conception is a highly charged and emotive issue. I find it difficult to remain objective on the subject because I am exposed on an almost daily basis to adoptees and foundlings on genetic genealogy mailing lists and in Facebook groups who have been denied access to their biological heritage and who are desperate to find out who they are. Increasingly, many of these people are finding answers and connecting with their biological families through DNA testing. My sympathies inevitably lie with them. The knowledge of one's identity is a fundamental human right and it is shocking that so many people today are still denied this most basic of all rights. I was struck by the disconnect between the donor-conceived people at the event and the people who are involved in the infertility industry. Clearly the change in the law was just the start of the process and there is much more that still needs to be done. Given that there is no legal requirement for the parents to disclose that a child has been donor conceived it seems that further legislation is likely to be the only way to guarantee the information that should be a child's right by birth.

Update 30th November 2015
A podcast recorded by Pod Academy captured some of the highlights of the meeting.

Update 13th April 2016
I have a co-written a paper with UCL colleagues Joyce Harper and Dan Reisel on The end of donor anonymity: how genetic testing is likely to drive anonymous gamete donation out of business. The article has been published in the journal Human Reproduction.

Further reading
- A Storify of the event compiled by Bionews
- A report of the event for Bionews from Arit Udoh
- As consumer genomics databases well, more adoptees are finding their biological families by Justin Web, GenomeNews, 25 September. Although this article is written from the perspective adoptees the same principles will apply to donor-conceived adults.
- We must support parents in being open with their donor-conceived children by Nina Barnsley, Jennie Hunt and Julia Feast OBE.
- DNA = Donors Not Anonymous by Wendy Kramer, Huffington Post.

Resources
- Donor Conceived Register
- Donor Sibling Link
- The Donor Conception Network - an organisation set up to provide a supportive network for the parents of donor-conceived children and for donor-conceived adults.
- DNA Detectives - a Facebook group for genetic genealogists focused on finding biological family for adoptees, foundlings, donor-conceived individuals, unknown paternity and all other types of unknown parentage cases.
- DNA testing for adoptees - many of the resources listed are applicable for donor-conceived adults.
- The Donor-Conceived DNA Project
- Human Fertilisation and Embryology Authority
- National Gamete Donation Trust