First, Katie Stoll sent the company a swab from her mixed-breed dog; later, a sample of tap water from her kitchen sink. Neither sample was identified as non-human by Orig3n lab employees.

Genetic counselor Katie Stoll was skeptical when she bought an at-home genetics test kit from a company called Orig3n in December 2017.

The kit was advertised to parents looking to better understand their childrens genetic profiles.

From food allergies to natural abilities for language and learning, the results help you get to know your child even better, Orig3n said of its Childhood Development genetic test kit.

Stoll purchased the test kit not to learn more about her child, but to learn more about Orig3n, a Boston-based consumer genetics company that pivoted to COVID-19 testing last spring and is now facing sanctions from the Centers for Medicare & Medicaid Services after the lab produced at least 383 false positive coronavirus test results last summer.

Stoll, working on her own, eventually submitted two samples to Orig3n for analysis. First, she sent the company a swab from her mixed-breed dog, Ginger; then later, a sample of tap water from her kitchen sink. Neither sample was identified as non-human by Orig3n lab employees.

Stoll is a board-certified genetic counselor who now works as executive director for the Genetic Support Foundation, an Olympia, Washington-based nonprofit that aims to provide independent information about genetics.

In a 2018 complaint she wrote to the Massachusetts Department of Public Health spurred by Orig3ns failure to identify the dog and tap water samples as non-human Stoll said that in ordering the kits, she as a consumer wanted to see if the company was forthright about the potential risks and limitations of the kind of genetic testing it offered. She also wanted to know if the company required a consent form, since the test was for children.

Orig3n CEO Robin Smith said last week that while the type of DNA analysis his company offers is relatively new, it provides one tool among many to help people make decisions about their lives.

The philosophy and culture here is, let's optimistically look at how you make yourself better, which is what everybody's interested in, he said. It's just another tool in that approach.

Scientists skeptical

But direct-to-consumer genetic testing continues to be viewed with skepticism in the scientific community.

Sarah Nelson is a senior research scientist at the University of Washington specializing in the ethical and social implications of genomics the study of all of an individuals genes and direct-to-consumer genetic testing. The university'sMolecular Biology and Genetics programs were ranked sixth in the world by U.S. News & World Report.

Theres a wide range in the quality and validity of direct-to-consumer genetic testing companies and the products they offer, Nelson said, but overall, the genetics community has reservations about genetic tests billed as being able to advise people about their predisposition to certain traits.

There's skepticism that we even understand the genetic basis of diseases and traits well enough to be reporting back to individuals, just the scientific credibility, she said. Maybe in 20 years we'll know enough to give people that type of information, but right now, it's premature.

Lindsay Farrer, a medical geneticist and Boston Universitys chief of biomedical genetics, said direct-to-consumer genetic testing often misleads customers because the companies use population-level data from studies about genetic links to certain traits or diseases and wrongly applies that data into risk assessments for random individuals.

Usually, the studies used by companies like Orig3n are based on very specific populations, such as older white European women, that dont always represent the range of people ordering the tests.

The information they give, even if it's of limited applicability, the accuracy of it is, at best, modest, he said. I guess my conclusion would be buyer beware.

Orig3n fails to flag samples as non-human

Stoll watched Orig3n advertise at sporting events including NFL and NHL games with concern, but it was the companys online advertisements for its Childhood Development test kits that prompted her to place an order herself.

Stoll thinks consumer genetic test kits like the ones offered by Orig3n also push important ethical boundaries, especially when it comes to children. Children cant consent to learning information about their DNA that has the potential to shape the rest of their lives, she said, even if their parents can.

Stoll said she didnt trust Orig3n with her childs DNA or her own, so instead, she swabbed the cheek of her dog, Ginger. After sending the kit containing Gingers DNA to Orig3n, she got a full report back from the company on Jan. 18, 2018 about the dogs genetic profile, which showed, among other things, that she was likely to have mild struggles with reading.

She said she gave the company a second chance. She ordered another Childhood Development kit, and sent in a sample of tap water from her kitchen sink on March 17, 2018. Again, she got a full report back from Orig3n. According to the report, the tap water would need longer to develop skills required for language learning.

Farrer laughed out loud when he learned that Orig3n had returned profiles for Stolls dog and the sample of tap water from her kitchen sink.

I can't think of a word to describe it, but it is beyond incompetence, he said. If that's the case, they are not competent to do what they're doing. If theyre getting DNA out of tap water, then thats bacterial DNA and that is clearly different from human DNA.

If they cant generate results reliably, then its worse than snake oil, Farrer said. Its downright chicanery.

A lab in transition

The companys report on Stolls sample of tap water was signed by Orig3ns then-lab director, a board certified geneticist, which deeply disturbed Stoll.

She reached out to the lab director, who told Stoll that she had resigned from the company, and that when the tap water sample was submitted, Orig3n was transitioning to a new director.

The lab director was not on-site at the laboratory when the test was performed and she had very limited visibility into the testing operations at that time, Stoll wrote in her complaint letter.

Stoll told the DPH that she was concerned about Orig3ns ethics, its technical proficiency and its professional oversight.

I hope that (the Centers for Medicare & Medicaid Services) will investigate these concerns and act as necessary in the interest of public safety, Stoll wrote in the complaint, dated Sept. 24, 2018.

In an emailed response to a similar complaint Stoll sent to the federal Food & Drug Administration, Tim Stenzel, writing on behalf of FDA Commissioner Scott Gottlieb, said the agency takes reports like hers seriously.

...We will evaluate this matter to determine what follow-up action is appropriate, Stenzel wrote. The type and extent of any follow-up is dependent upon the nature of the problem, the possible impact on the public health, and the availability of our resources.

A DPH investigation into Orig3n conducted before Stoll filed her complaint found the lab had fixed lab issues that led to the companys failure to identify dog DNA as non-human.

In April 2020, despite three previous investigations by other agencies into quality control problems in Orig3ns lab, the FDA gave the company emergency authorization to conduct coronavirus testing.

In May, the DPH recommended Orig3n as a testing option for nursing homes facing deadly outbreaks.

For Stoll, the eventual finding by regulators that problems at Orig3ns lab led to the reporting of hundreds of false positive COVID-19 tests showed a dangerous weakness in how governmental agencies are overseeing labs that test human samples, whether those tests are used for diagnostic purposes or personal betterment. False diagnostic test results can pose a danger to patients because doctors make medical decisions based on those results.

That weakness needs to be addressed so Americans can trust the results of their lab tests, especially amid a deadly pandemic, she said.

I feel discouraged, Stoll said last week. What does the system mean when you do things the right way and you file complaints to the right agencies and nothing happens, and then something horrible like this happens? It just feels terrible, really.

Jeannette Hinkle is a reporter for The MetroWest Daily News. Reach her at jhinkle@wickedlocal.com.

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Skepticism led woman to send dog DNA to Orig3n. Scientists question the reliability of direct-to-consumer genetic testing and analysis. -...

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