By Sunny Um WIRED Korea 
 
When Kang Kim-koo, a public service worker, learned that at-home genetic tests could show a person’s ancestry, he wondered if he had any genetic heritage rarely found among Koreans, such as Siberian.

To satisfy his curiosity, Kang ordered a tiny tube from an at-home genetic testing company last month. Kang put his saliva into the tube, tightly sealed the tube and sent it back to the sender’s address. 

A week later, he received a report from the company, which said his genetic heritage was 49.97 percent Korean, and that the rest was Chinese and Japanese. Kim posted a screenshot of it on Instagram with a remark: “My genetic heritage was nothing but common.” 

It is not only the genetic heritage that Kim can learn through at-home genetic testing. Some tests provide a person with information about his common trait, genetic disorder, skin type and even wine preferences. Experts say that genetic testing would be widely available in Korea soon – but that’s if the government is willing to relax relevant regulations.  
 
DTC Genetic Testing 

In Korea, public interest in at-home genetic testing has been surging since 2016 when the government first approved its sales. Theragen Bio, a leading biomedical company in the nation, carried out more than 50,000 such tests since its launch in 2016, the company’s official says. Another company, Eone-Diagnomics, conducted more than 10,000 tests from February to May, according to a Korea Economic Daily report.

Clinical genetic testing is another type. It is a medical test conducted on human cells to identify changes in genetic or chromosomal conditions. It also shows a person’s chance of developing or passing on genetic disorders. A medical doctor may order a genetic test if he wants to find if a disorder runs in the family of his patient. 

At-home genetic testing, better known as direct-to-consumer (DTC) genetic testing, is different from the clinical testing, as its purpose is to satisfy consumer curiosity.  

The most popular DTC genetic tests give information on genetic disorders, along with information on personalities, skin types and even a person’s ancestry, for which Kang requested a test. 

“DTC genetic testing identifies many things about us in a scientific manner,” says Jong Bhak, a genomics professor at Ulsan National Institute of Science and Technology. “It says much about how compatible a person would be with his partner, what his future kid would be like, or how a person would behave at work.” 
 
Decode, Read, and Categorize 

When a person places an order for a genetic test kit, he will receive a tube or a cotton swab from a DTC company. He puts his saliva into the tube or brush the inside of the cheek. The company extracts DNA from the cells contained in the saliva or in the swab. Then it puts the DNA on a semiconductor chip and decode with a software that can read over 700,000 positions where people’s genetic codes vary. 

“When the decoding process is done, researchers read and categorize the DNA, find its origins, and compare with other DNA samples,” says Professor Bhak. “Researchers then determine whether a person has a genetic disorder or where his genetic heritage is from.” 
 
Statistical Calculation 

The accuracy of such a test is highly dependent on a statistical calculation, which leaves a margin of error. “The result of genetic testing is useful in so far as a person learns about his genetic conditions,” says Professor Bhak. “But it is based on statistics, so it's hard to say that test results show what his actual health conditions are really like.”

He says, “It is possible to say, for example, a person has a 20 percent higher chance of developing cancer, but it is difficult to say that he will definitely have it.” 

To have test results with a lower margin of error, DTC companies try to build a database with many DNA samples. World-renowned companies, such as 23andMe and Ancestry, are scaling up their sample size with DNA from millions of people.  

However, Korean DTC companies are dependent on public datasets. An official of Theragen Bio says that his company uses public datasets available in the United States or European countries along with outsourced data from a third-party company. 

Those datasets are found to have limitations. “Some American data simply group many Asian heritages into the same category,” Theragen Bio official says. “Sometimes Korean samples are categorized as Japanese, or Northeast Asians.” 

Some companies build their database by doing joint research with medical institutions. Macrogen, a biotechnology company in Seoul, has a dataset of 2,000 Korean samples that it has obtained from a research project it conducted with several medical institutions. “Our testing process is one of the best for analyzing intestinal microbiomes of Koreans,” says an official of Macrogen.

Yet, a large number of samples that go into the database does not guarantee a correspondingly high level of accuracy, though it may raise a chance of being accurate. That is why DTC companies must inform consumers that genetic testing has its limitations.

Bermseok Oh, a genomics professor at Kyung Hee University, says that DTC companies are obliged to inform consumers about possible statistical errors in the test results. In his thesis “Direct-to-consumer genetic testing: advantages and pitfalls”, he wrote: “Consumers may make decisions on their own with inaccurate or non-deterministic DTC results, and take action, without appropriate consultation with clinicians, which can do damage to their health.” 
 
Putting the Brakes 

Theragen Bio official says the government’s regulations pose the biggest challenge for DTC companies’ growth in the Korean market. “Other countries allow DTC genetic testing for many purposes, but not in Korea,” he says. “Some (Korean-owned) DTC companies are incorporated outside of Korea and do their businesses (in Korea) as foreign companies to avoid domestic regulations.” 

At first, the Korean government relaxed regulations on 12 categories of DTC genetic testing, while questioning the accuracy of test results and possible health risks. Later, the government lifted regulations on 56 categories, including vitamin-level estimations, hair loss predictions, and ancestry tracking. 

Last year, the government put DTC genetic testing in the regulatory sandbox, a measure allowing test kits to be exempted from regulations for two years. But none of the companies, including Theragen Bio and Macrogen, have managed to have their business plans approved by the Ministry of Trade, Industry and Energy yet, which is a preset requirement for putting their test kits in the regulatory sandbox.