When Christian Millare was born in Columbia on Aug. 23, 2005, he appeared to be a healthy baby.
It wasn't until his four-month check-up that doctors discovered Christian began suffering from febrile focal motor seizures. Over the next year, the seizures got worse. His medical team tried to control his condition with medication, including "sodium channel blocking" drugs often used to treat frequent seizures. But nothing worked.
Ultimately, his health care providers turned to genetic testing to reveal the cause of Christian's illness. A lawsuit filed by his mother, Amy Williams, alleges Athena Diagnostics, which processed her son's blood sample, misdiagnosed his DNA mutation, thus prompting his doctors to recommend the wrong course of treatment. The medication that Christian continued to take likely made him worse, the lawsuit contends. Christian died in 2008 before his third birthday following a traumatic seizure.
"The results from the lab sent the physicians down a road of treatment that we found out later was the polar opposite of what should have been done," said attorney James Ervin, who represents Williams.
Ervin, with the Columbia-based firm Ervin & McGuire, said Williams could not be interviewed for this article because she is a witness in the case.
Her lawsuit contends Williams found out Christian's diagnosis changed when she requested a copy of the genetic lab results several years after his death. The paperwork reflected a different conclusion than the original report.
"We don’t know why they changed the report," Ervin said. But the new diagnosis could have informed Christian's treatment, he argued. "He would be alive today."
Athena Diagnostics has since been acquired by Quest Diagnostics. A spokeswoman for the company said she would not discuss ongoing litigation, but John Moylan, an attorney at Wyche in Columbia, represents Quest in this lawsuit and said the lab did nothing wrong.
"They very much believe they did what was appropriate at the time," Moylan said.
When Athena Diagnostics processed Christian's DNA more than a decade ago, the technology was too new to determine if his mutation was benign or harmful, Moyland said.
That's why the lab labeled it a "variant of unknown significance."
Over the years, as genetic testing evolved, Moylan explained, scientists came to understand that the mutation detected in Christian's DNA was, in fact, harmful. His records were updated to reflect that new information.
"The reason the diagnosis changed is because genome testing changed dramatically," he said.
At the time, Athena Diagnostics was unable to determine if Christian's DNA mutation had been passed down from his parents. Athena requested to test his parents' DNA, but those samples were never provided, Moylan said.
Williams' lawsuit disagrees with Moylan's arguments. The case hasn't reached its conclusion, but the S.C. Supreme Court answered a question related to it last month, concluding that federally licensed genetic testing laboratories, such as Quest, should be classified as "health care providers," even though the state's existing laws don't explicitly categorize them as such.
The designation makes these labs liable under the South Carolina's medical malpractice code.
The opinion specifically relates to genetic testing labs that process DNA at "the request of a patient's treating physician," but the new court document raises legal questions as genetic testing becomes increasingly popular, particularly by companies that offer at-home testing kits.
Once considered a useful tool for genealogy enthusiasts, such at-home genetic tests have become more sophisticated and widely embraced. 23andMe, for example, offers customers a test to screen for gene mutations that often cause breast cancer. For less than $200, customers may send in some saliva and find out if they carry genes linked to Alzheimer's disease or Parkinson's disease.
Until recently, genetic testing was a tool mainly used by doctors for diagnostic purposes. That's not the case anymore. A recent poll conducted by Truven Health Analytics found 50 percent of respondents who underwent genetic testing were ordered to do so by a doctor. The other half — 49 percent — ordered a direct-to-consumer test of their own accord.
For now, these direct-to-consumer genetic testing companies aren't considered "health care providers" under the state's malpractice laws. That may change in the future. The recent state Supreme Court document only bears on genetic tests ordered by physicians.
The court didn't render the answer Williams' lawyers were hoping for. She filed her suit in 2016, long after the legal limit to initiate a medical malpractice case had lapsed. The fact the court decided Quest Diagnostics should be classified as a health care provider doesn't necessarily help her case.
It may proceed anyway. Williams' lawyers have argued the company should be held liable for negligence outside the malpractice statute. A federal district court judge has not yet made a decision on the matter.