What Are Genealogical DNA Tests?

Once I decided to conduct an ethnography of direct-to-consumer genetics (DTCG), I began researching the topic, including a formal definition.  As I learned, DTCG tests are marketed directly to consumers via television, print advertisements, or the Internet, and sold to them directly for use at home, typically without the involvement of a medical professional or an insurance company. These genetic, or DNA tests are therefore sold by private businesses and are mostly outside of the purview of the medical community.

About Consumer Genealogy DNA Kits

The tests are often sold by companies that exist outside of the traditional healthcare sector. Upon purchase, a test kit is mailed to the consumer which allows them to collect a DNA sample. The sample can be collected in many ways, but most often involves spitting saliva into a test tube or swabbing the inside of the cheek and then placing the swab into a solution to transfer the cells. Either way, the sample is collected by the consumer in a sealable test tube which is typically placed in a biosafety bag that goes inside a pre-paid box and mailed back to a laboratory. At the lab, the DNA is sequenced, which usually takes between one month to a few months. When the results are ready, the company contacts the consumer, typically by email, and usually displays the results on a password-protected website (US National Library of Medicine n.d.).

The Start of DNA Genealogy Research

The rise of the DTCG health testing model is a relatively new phenomenon, only becoming a possibility for consumers in the late 1990s and early 2000s as sequencing and analysis costs started to drop. At this time, the first tests that became available, and popular, were genealogy tests. This process of creating awareness and popularization started with surname research by Bryan Sykes, a molecular biologist at Oxford University. His study sought to understand whether genetics could be used to assist genealogical research. The study, which looked at only four markers on the male chromosome, proved useful (Sykes and Irven 2000).

The Rise of Genealogical DNA Tests

Following this, in March of 2000, Family Tree DNA (FTDNA) launched eleven marker Y-Chromosome STR tests and HVR1 mitochondrial DNA tests that expanded on the Sykes surname project (Wikipedia 2018). With this test, and FTDNA’s online surname database, genetic genealogy research moved out of academia and into the publicly available commercial space of capitalism. This was followed the same year by Oxford Ancestors, a spinout from Oxford University, based on the Sykes surname project (Oxford Ancestors n.d., International Society of Genetic Genealogy 2017). These two publicly available tests marked a turning point, and after their release, the floodgates broke open. By 2003, the field of DNA testing for genealogical purposes was deemed to have arrived by Jobling and Tyler-Smith in the Nature Reviews Genetics that year (International Society of Genetic Genealogy Wiki 2015). They made this claim based on the fact that many more consumers were starting to buy tests, and more tests were becoming available from other private companies, a trend which would only continue.

By late 2007, there were many new private players in the industry such as the National Geographic’s Genographic Project, African Ancestry, DNAPrint Genomics, Sorenson Genomics, Genomac, and Relative Genetics, as well as FTDNA and Oxford Ancestors. Together, these private DTCG companies had sequenced an estimated 550,000 to 650,000 genomes for genealogy purposes, with bullish estimates ranging from 600,000 to 700,000 (Bettinger 2007). Since 2007, this trend has continued, supported by ever decreasing costs in the sequencing space, as well as other technology costs associated with storing and delivering the results. For example, the cost to sequence a whole human genome in 2008 was almost $10 million. In mid-2015, it was just above $4,000, and by late in 2015 it had fallen below $1,500. Today it is close to $1,000 (National Institute of Human Genome Research 2016).

Making these tests even more affordable is the fact that a whole genome sequence is typically not carried out for genealogical purposes. In fact, a very small portion of the entire genome is often sequenced by one of the three common types of tests: mitochondrial, Y, and autosomal. Mitochondrial DNA (mtDNA) tests, trace a person’s matrilineal or mother-line ancestry using the DNA in their mitochondria. Y-DNA tests, while more expansive than the mitochondrial tests, still only look at one chromosome, the Y chromosome, out of the 23 total human chromosomes. Autosomal DNA tests look at any DNA that exists within the 22 non-sex chromosomes, as opposed to the sex chromosomes. Typically, these tests look at known single-nucleotide polymorphisms (SNP), which are changes to a single nucleotide in a DNA sequence. The number of SNPs reviewed differs by company, but is often in the range of 500,000 to 750,000 SNPs. (International Society of Genetic Genealogy 2017).

Online DNA Testing For Genealogy Explodes

When taken together, the rapidly falling costs of sequencing, combined with the practice of carrying out only partial sequences, has led many more players into the market. In fact, by 2016 there were an estimated 74 companies providing DTCG tests for ancestry purposes (Phillips 2016). But despite there being an estimated 74 companies, only a few seem to be leading the way today based on acquisitions, diversification, partnerships, and/or venture capital. AncestryDNA for example, which only started its DTCG testing service in 2012, has since acquired other ancestry companies including Relative Genetics, GeneTree, and Sorenson Molecular Genealogy Foundation. These acquisitions, paired with the existing market share Ancestry had in the genealogical family tree space, allowed them to sequence over one million customers in their first three years, and 12 million by the close of 2017 (MIT Technology Review 2018).

Similarly, Gene by Gene, founded in 2000 as Family Tree DNA, later diversified to create the brands DNA Traits and DNA DTC for the purposes of offering other types of DTCG tests, such as a whole genome test. They have also acquired other ancestry companies along the way, including DNA Heritage and DNA-Fingerprint, and have partnered with National Geographic to provide testing for National Geographic’s global genetic survey, the Genographic Project (Petrone 2015).

23andMe, a latecomer to the DTCG space like AncestryDNA, is also worth noting for it epitomes the Silicon Valley model of DTCG. Started in 2006 by Anne Wojcicki, an ex-investment banker looking to disrupt conventional business models of health care, 23andMe raised $8.95 million in 2007 from a number of high-powered investors, including the biotechnology powerhouse, Genentech in South San Francisco and Google, whose co-founder Sergey Brin, was married to Wojcicki from 2007 to 2015. Using this capital, 23andMe was able to rapidly scale with less concern for breaking even in their early years. In October 2009, two years after their first round of investment, 23andMe only had 30,000 active genomes in its database (Patch C 2009). But given their various rounds of funding, including their most recent raise of $250 million announced in September 2017, their database grew to include 2,000,000 genomes by October 2017, a change of 6566.66% over eight years (Hayden 2017).

Current Genealogical DNA Test Prices

The competition that these acquisitions, diversification, partnerships, and/or venture capital unleashed, has created a race to the bottom when it comes to the cost of selling genealogical tests. Whereas in the early 2000s, DNA tests were many hundreds of dollars, today you will often find an autosomal kit priced around $100 or less when on sale. In fact, during the 2017 week of Black Friday sales and the end of year holiday sales, when the DTCG companies are fiercely competing for business, most autosomal kits were selling near the $70 price point. This, in turn, has led to many more consumers buying the kits, across all 74 DTCG companies, particularly the leading brands of AncestryDNA, 23andMe, Gene to Gene (FTDNA), and National Geographic’s MyGeno which is now powered by a recent startup, Helix.


Also published on Medium.

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