The consumer genomics market is often thought to be dominated by a handful of American players, but across the Atlantic, a UK-based company called ScotlandsDNA is specifically courting British and Irish customers.
According to Jim Wilson, co-founder and CSO of ScotlandsDNA, the two-year-old Edinburgh-headquartered firm has offered array-based genetic ancestry tests since its inception, with services available for both Y chromosome and mitochondrial DNA testing. That changed at the end of last year, though, when ScotlandsDNA and its affiliates introduced All My Ancestry, an autosomal DNA test that is to some extent competitive with offerings from Ancestry.com, Family Tree DNA, National Geographic's Genographic Project, and 23andMe.
Like those other services, ScotlandsDNA's All My Ancestry service relies on a custom designed, Illumina-made genotyping array to provide clients with information about their deep ancestral makeup. But unlike those other services, ScotlandsDNA's service is focused specifically on the roughly 70 million people who reside in England, Ireland, Scotland, and Wales.
To reach customers in these markets, ScotlandsDNA maintains affiliate companies called BritainsDNA, IrelandsDNA, and YorkshiresDNA
Wilson told BioArray News that the firm's array, called the Chromo2 Chip, is based on Illumina's Infinium HumanCore BeadChip design, and contains about 300,000 markers for autosomal interference.
Chromo2 is the main platform for ScotlandsDNA's various tests, including All My Ancestry, Y, mtDNA, as well as a test called Redhead that informs a client if he or she carries some of the 40 known variants on the MC1R gene that are associated with having red hair.
"The interest in redheads is very Scottish and Irish, and we wanted to tap into that while finding out new things at the same time," said Wilson of the Redhead test.
Each of the tests relies on a different set of SNPs and carries its own price tag. All My Ancestry costs £169 ($280). According to ScotlandsDNA's website, All My Ancestry customers are provided with a report that shows the average geographical origin of one's ancestors, a population percentage plot that infers which proportions of one's genome come from seven regions in the world, and a chromosome painting report that breaks down the blocks of each chromosome by inferred geographic origin.
ScotlandsDNA also offers three different versions of its Y tests and two separate mtDNA tests, which differ in terms of markers and comprehensiveness, as well as the 40-SNP, £25 Redhead test. The company also offers a service called Chromo Complete. For £220, female Chromo Complete clients can receive their All My Ancestry, mtDNA, and Redhead reports; and for £250, Chromo Complete male customers can have their All My Ancestry, Y, mtDNA, and Redhead reports generated.
While such tests seem to be directly competitive with those offered by 23andMe, Family Tree DNA, and Ancestry.com, ScotlandsDNA does not yet provide a mechanism for matching relatives and allowing clients to engage in genetic genealogy via online communities, as those other companies do. However, Wilson said that such kinship tests are "on the horizon" for the company as well as other trait tests that would become available later this year. He did not elaborate.
Still, because of its shared heritage and language, customers in the UK and Ireland are a definite source of revenue for American consumer genomics firms.
23andMe spokesperson Catherine Afarian told BioArray News in August that the company has seen the "strongest response in other English-speaking countries," though it does have customers around the globe and ships its kits to 50 countries. Likewise, Spencer Wells, director of National Geographic's Genographic Project, similarly told BioArray News at the time that the bulk of the firm's customers are in the "US, Canada, Australia, and other countries where English is spoken."
'Keen on heritage'
ScotlandsDNA has its origins in Ethnoancestry, a company established in 2004 that offered Y and mtDNA products and was absorbed into ScotlandsDNA when it was founded in November 2011. The related brands BritainsDNA, IrelandsDNA, and YorkshiresDNA were created in April 2012, and the company does business under each name, though Wilson prefers to refer to the company as ScotlandsDNA, because that business predates the others by a few months.
When the company began using its Chromo2 Chip, it superseded Decode Genetics as the main European source of array-based autosomal DNA testing services. Reykjavik, Iceland-based Decode had offered a service called DecodeMe from 2007 until 2013 that assessed an individual's ancestry as well as personal disease risk.
Wilson said that ScotlandsDNA offers its service globally, and contains enough Y and mtDNA SNP markers to determine the deep ancestry of individuals from far-removed populations in, for example, East Asia. Still, Britain and Ireland remain the firm's main markets, especially England and Scotland.
"It's hard for me to tell whether there has been a bigger response in Scotland versus England as there are different marketing campaigns in the different places at different times and there are ten times more people in England," said Wilson. "The English are also keen on heritage, not just the Scots."
Since most of ScotlandsDNA's customers reside in England, Ireland, Scotland, and Wales, the company can use their data to enhance clients' experiences to a degree that competitors abroad might not be able to do. He noted that the company now has markers for Scottish clan surnames such as MacGregor, Lamont, Hamilton, and even for cadet branches of these families, such as MacGregor of Glencarnaig or Stewart of Lennox.
"The British origins actually drive some of the results we can return to people, for instance mapping the frequency of their narrowly defined haplogroup across 16 regions of Britain and Ireland, using reported grandparental origins from thousands of customers previously tested," said Wilson. "There's so much data, I haven't had time to process them all, but there are lots of fine-scale patterns emerging."
Based on those results, Wilson envisions a scenario where ScotlandsDNA might be able to eventually break down the ancestral proportions of a Londoner, whose antecedents likely came from different shires.
"Given enough ancestral population structure, it is possible that [rare variants] could be used to infer the proportion of Cornish versus Yorkshire in someone's genome," Wilson said. "Of course, there has been a lot of movement since the Industrial Revolution, and in some places this would be impossible, but even with the arrays on the market now, which only include common variants, advanced analyses can differentiate many English counties," he added.
To distinguish ScotlandsDNA from competitors, there is also the matter of the redheads. As described on the firm's blog, ScotlandsDNA presented data on the geographic distribution of individuals carrying redhead-associated variants at the annual Irish Redhead Convention, held last August in County Cork.
"It is interesting to discover for instance where the most redheaded parts of Britain are, whether some redhead variants are more Irish and others more Scottish and in time potentially to explore whether certain variants or combinations of variants might give a tendency to certain tints of red hair," said Wilson. He noted that the company sequences any redheads who come back with no variants to discover new variants that can be introduced into the service.
"It's all about enriching the experience for the consumer, and we differentiate ourselves from other companies by focusing more on interpretation, historical or geographical," said Wilson.
Wilson predicted that such fine mapping of the British and Irish populations will continue to better the experience of ScotlandsDNA customers. He suggested that the UK Biobank's effort to genotype its 500,000-sample biorepository using a custom Affymetrix-made chip could also benefit ScotlandsDNA.
Peter Donnelly, who led the team that selected content for the UKBB chip, provided BioArray News with an overview of its content in October. According to Donnelly, a professor of statistical science at the University of Oxford, the array contains about 821,000 markers, and was designed to include markers specific to the white British population, which represents 450,000 samples of UKBB's half-million-sample holdings.
"There is going to be much more crossover between complex trait genetics and ancestry genetics," said Wilson. "The former drives the collection of larger and larger sample sets, and ever better genotyping arrays, an example of both being UK Biobank, with 500,000 samples and a bespoke genotyping chip forthcoming, that includes variants down to 0.1 percent frequency and below," he said. "As such, it represents not only a groundbreaking health study but also great raw material for population genetics and thus, in time, ancestry testing."
The 'fruits' of sequencing
One question looming over the heads of consumer genomics firms is how to best integrate next-generation sequencing into their offerings. Both Family Tree DNA and startup Full Genomes have introduced Y chromosome sequencing services, and 23andMe has stated that it is interested in developing services on the technology.
Wilson said that ScotlandsDNA began performing whole Y chromosome sequencing as part of internal discovery efforts in 2012. But rather than introducing a Y chromosome sequencing service, the company is taking the markers identified via sequencing and putting them onto its array platform.
"The future of this work is a combination of sequencing and then taking the fruits out into much larger samples using chips, at least until such time as sequencing is literally cheaper than chips," said Wilson. "This is the start of a new era in genealogy," he added, "where we will be able to draw family trees without paper records."