DNA testing is on the rise as people look to discover the hidden histories of their families and unlock their own genetic heritage

Despite its initial dismissal as ‘junk science’, DNA testing has become big business in recent years as the technology improves and more people look to unlock their own genealogical secrets

Kitty Taylor had heard since a young age of an ancestor called Uraine Figaro, whose birthplace and life story were a mystery to her family. She was intrigued by the woman’s name, but it wasn’t until her father died suddenly in February this year that she resolved to discover more about her and her own ethnicity by registering with Ancestry.com and taking a genealogy DNA test.

“My father started researching the family tree about 18 months ago because we knew of this person, Uraine Figaro,” says Taylor, a Launceston artist and photographer.

“My father had gone onto Ancestry.com and started researching [the family tree] and he became really quite obsessed by it. Then in February he suddenly died, and so all that wealth of knowledge [about our family history] was lost.

“It really sparked me to want to know more about my father and our family background.”

She says the results of the DNA test shocked her. Not only did they solve the mystery of Uraine Figaro and connect Taylor with previously unknown cousins, the results contradicted what she had hitherto believed to be her heritage – English, Scottish, Irish – as suggested by her pale skin, curly red hair and blue eyes.

Rather, the results showed she was 22 per cent French, 15 per cent Irish and a mix of British, Scandinavian, Italian and – significantly for Taylor – Nigerian.

“I was shocked to discover my majority ethnicity is French. Uraine Figaro is my great, great, great-grandmother. She was born a slave to a Nigerian mother and a French father,” Taylor says. “It really surprised me to discover how much of her, and her mother and father’s, DNA is in me. She’s the only black woman in the family tree so that’s where the Nigerian [ethnicity] would have come from. Now I have everyone saying, ‘It explains your crazy hair’.

“When I was in Paris when I was about 32, I remember some black people on a train had called me ‘negre blanc’, which means white negro. I was really quite blown away by that. As soon as I read Nigerian on my DNA test result, I thought, ‘those French people knew’.”

Taylor was able to discover her ancestor’s story and the

names of cousins (including a first cousin in Canada) she had never met because she’d opted into another Ancestry.com service, which matches you up with people who share your DNA on its database. “It flagged quite a few people and they had done heaps more research into Figaro’s background than I had.”

She plans to use the experience for her arts practice. “I’d like to do residencies in the regions that were identified and just draw from the whole process. Genealogy DNA testing is booming. Ancestry.com, which started out in 1983 publishing small genealogy magazines for family history buffs in Utah, US, leads the pack, estimated by Forbes to be now worth $1.09 billion.

The company’s introduction of do-it-yourself DNA-testing kits in 2012 is responsible for its massive growth: from 2015 to 2016 alone, membership of its DNA database doubled from one to two million. In January this year it reached three million; in April four; and by August, five million people around the world had taken its DNA test, making it the world’s largest ancestry DNA database. Chief executive Tim Sullivan expects 10 million people will join within two years. “The DNA business has exploded,” he says.

The company’s nearest rival, Californian-based 23andMe, founded in 2006, has two million members. Relative newcomers, Israeli-founded MyHeritage and UK-based Living DNA – which both entered the DNA home-testing market last year – have not released membership figures, but MyHeritage (which has run an online genealogy research business since 2003) claims 92 million users, 40 million family trees and billions of historical online documents, the largest international database of historical records anywhere. But just what are these companies testing and how do they arrive at their conclusions? The vast majority of genealogy testing is autosomal: humans are made up of 23 chromosomes, 22 pairs of autosomal chromosomes and one pair of sex chromosomes (that is X or Y, male or female), and it’s the autosomal DNA that’s tested (DNA is an abbreviation for deoxyribonucleic acid, the nucleic acid containing our genetic code).

AncestryDNA and 23andMe require saliva samples; MyHeritage, Family Tree DNA and Living DNA use a cheek swab, which is sent off for analysis using genotyping chips of varying complexity. These DNA samples are then dissolved in liquid that is brushed over the chip, and any similarities in up to 700,000 genetic DNA markers encoded on the chip are turned into data, which can be read.

The results are then fed into algorithm programs that seek to identify which sections of the DNA best match the databases of hundreds of human populations with different geographical or ethnic labels.

No two companies use exactly the same algorithms, which means ethnicity estimates and relationship predictions differ. The entire process between swab and result takes between four to eight weeks.

Any Australians of UK heritage using AncestryDNA, for example, might expect a mixture of Irish, Scottish, Welsh, English and a smattering of Scandinavian and Western European (French or German) broken down into estimated percentages, which reflect general human population movements.

Some French Huguenots fleeing religious persecution in the 17th century moved to England, for instance, so some English heritage will be French. Australians of Asian heritage might expect to see South Asian heritage or East Asian (Chinese or Vietnamese) and others, Middle Eastern or North African.

MyHeritage often throws up slightly different results (its chip marks any Ashkenazi Jewish ethnicities, for instance) and it has been involved in work recording the DNA of less documented groups (in Papua New Guinea, among others).

Living DNA claims to employ the most advanced testing technology in the world, using a custom version of the latest Illumina Global Screening Array (GSA) chip. It claims to provide the most detailed results, identifying through its encoded chip both maternal ancestry in mitochondrial DNA (inherited only from the mother) and paternal ancestry, by comparing variations on the Y chromosome.

The company’s unique selling point is its ability to break down UK ancestry to 21 specific regions of Britain and Ireland, using data collected by Oxford University’s ongoing People of the British Isles project, as well as the worldwide databases used by other ancestry DNA companies. It works closely with University of Bristol geneticists, statisticians and computer scientists developing and refining its algorithms.

David Nicholson, managing director of Living DNA, said in a phone interview from the company’s headquarters in Frome, Somerset, in southwest England, that Living DNA “gives people the most accurate and detailed estimate of their extended family tree, stretching back thousands of years”.

And technology now allows users to upload their DNA data from one genealogy service site to another. As a result, databases worldwide are expanding.

If the BBC’s runaway hit show Who Do You Think You Are? – first aired in 2004 and now in its 13th consecutive season, with spin-offs in several countries including the US and Australia – helped kickstart the genealogy craze, it’s no longer only celebrities wanting to know who they are. These days it seems almost everybody does.

The jury is still out among research geneticists, population statisticians and others in the worldwide scientific community as to the value of ancestry DNA testing. It’s not so much the relative matching that’s the issue – if two cousins or sisters are on the same database, the relationship will be immediately clear – it’s the ethnicity estimates.

The most famous swipe came in 2013, when testing was still in its infancy, when Mark Thomas, Professor of Evolutionary Genetics at University College London’s (UCL) Department of Genetics, Evolution and Environment described some genetic ancestry testing as “business, and the business is genetic astrology”. Television shows such as the BBC’s Meet the Izzards claimed that the British comedian and actor Eddie Izzard was a descendant of Vikings on his mother’s side and pure AngloSaxon on his father’s.

An ancestry testing company (since gone out of business) claimed to have found DNA evidence that proved actor Tom Conti was a direct descendant of Napoleon Bonaparte.

Since then, companies have made huge advances in a relatively short space of time: the quality of chips has improved, algorithms refined and databases are growing at extraordinary rates. All commercial DNA-testing companies now use tools based on solid science. However, David Balding, Professor of Statistical Genetics at the University of Melbourne and formerly a population geneticist at UCL with Professor Mark Thomas, says there are still misunderstandings, exaggerations and misleading claims made.

“Basically, DNA testing can help identify people that have been tested and who have DNA similar to yours, which means you could have recent ancestors in common. But it’s hard to say how recent or where those ancestors were,” he says.

“Generally, if you have a lot of similarity with people from a certain part of the world, it’s a reasonable guess that your ancestors came from there, but it’s just an educated guess. DNA can’t tell you that, and humans have always moved around a lot.”

Moreover, he says there’s an in-built bias in the system because there is no single database containing the DNA of every human population group.

It’s spurious science, therefore, to suggest Conti is a direct descendant of Napoleon: DNA is an assortment of genetic sequences inherited from thousands of different ancestors, which are passed on randomly, and effectively rendered negligible within three or four generations. The amount of DNA any one person shares with a very distant relative, however, is tiny compared with the huge amount of DNA we all share with our common ancestors.

Because everyone has two parents, the number of ancestors doubles with each generation, so going back only 10 generations results in more than a thousand ancestors from whom very little DNA is directly inherited. Ultimately, everyone has more ancestors than we have sections of DNA and – if we go back far enough – most humans share sequences of DNA.

One influential evolutionary biology study found that every person alive in Europe 1000 years ago – if they left descendants – is an ancestor of every European alive today.

In 2013, 23andMe was banned by the US Food and Drug Administration from selling a health test because of concerns about how such data might be interpreted. Now many companies besides 23andMe offer health DNA information, using the same ancestry DNA data, which looks for genetic variants potentially putting you at risk of inherited diseases. 23andMe has also partnered with biotech and pharmaceutical companies to study disorders ranging from Crohn’s disease to Parkinson’s, using data voluntarily supplied by its customers.

According to New Scientist, about 80 per cent of customers altruistically volunteer data for research purposes, but it is the increasingly valuable databases of genetic information that are the issue. Big profits can potentially be made by selling this data, which is a concern.

Hobart-based Menzies Institute for Medical Research geneticist Kathryn Burdon has expertise in both laboratory and analytical genetics, including genotyping and sequencing. Her research aims to use genetics to accurately predict the risk of disease in individuals.

Burdon’s biggest concerns about genealogy DNA testing relate to the potential future use and/or sale of health information gleaned by the tests to businesses such as health insurance companies, and privacy issues. She believes commercial DNAtesting companies don’t yet have the ability to return reliably accurate health information to consumers, though “some of them think they do”.

“The science is not there yet for the genetic predictions from the tests they’re using,” Burdon says.

“The human genome has three billion letters in it and they only look at 700,000 letters. That’s still a very big number and it’s definitely enough for looking at ancestry. But if you can imagine if all three billion letters are doing something in the genome and you’re only looking at a few of them, the information you are inferring about the rest of the genome and how that re- lates to complex diseases that have a lot of different inputs to them is not yet accurate.”

Burdon goes on to say that the science behind current DNA genealogy testing is “tight” and provides reliable information about ancestry. However, she says people should ask questions and read the “fine print” to find out what their genetic data will be used for, and by who, and how long it will be stored, before doing tests.

“I think people should be really careful and clear about what’s happening to their data and if they’re comfortable with that when they sign up to any of these things,” Burdon says.

“I wouldn’t do it. I’m not a very big sharer. I don’t put my personal life out in the public area very easily and I just have a disquiet that ultimately that might be what happens to this data and particularly as the health predictions do increasingly become more accurate and are better and more useful.

“There are no laws in Australia preventing insurance companies from denying you from insurance like health and life insurance. We have the technology now to look at the whole genome and from some of those new technologies we can relatively accurately predict genetic diseases that are caused by single genes, not things like diabetes and heart disease but some of the hereditary cancers and some of the early onset neurodegenerative diseases.

“If a company like Ancestry.com retests your DNA down the track, they could sequence your whole genome. Then if you have that information and your [health] insurance company asks you for it, you are in a tricky situation.”