During the peaceful moments of Christian Millare’s short life, he’d curl up next to his mother, Amy Williams, as she read Dr. Seuss books out loud. She rocked him to sleep to the songs of Josh Groban and taught him sign language. But those blissful times were often interrupted by Christian’s violent and mysterious seizures, which began when he was 4 months old. After one final seizure, he died on Jan. 5, 2008, at age 2.
Now, after more than a year of researching Christian’s case, Williams believes his death could have been prevented if not for an erroneous DNA test result by one of the world’s largest laboratories — which she’s suing. “To find out all that I found out is just a chop to the throat,” Williams told BuzzFeed News.
Williams, who lives in Myrtle Beach, South Carolina, has filed a wrongful death lawsuit against Quest Diagnostics, which has a $10 billion market cap, as well as its subsidiary Athena Diagnostics. The lawsuit, which as of last week is pending in U.S. District Court in South Carolina, accuses the companies of failing to report that her son had a genetic mutation linked with a rare seizure disorder that would have led doctors to treat him appropriately.
Williams’ lawsuit is one of a handful over the last decade in which people have sought to hold doctors and laboratories responsible for mistaken or unwelcome DNA test results about themselves and their offspring. Such litigation underscores the growing pains of the young and booming genetic-testing industry, and just how slowly the latest genetic discoveries might travel from lab bench to real patients.
“Given medicine is an inexact science, there’s always going to be errors, and doctors and labs are going to have to make their best estimates,” Gary Marchant, a law professor at Arizona State University who tracks genetic testing-related lawsuits, told BuzzFeed News.
“Every time they’re wrong, it doesn’t mean there should be a lawsuit,” Marchant said. “But on the other hand, when they clearly haven’t lived up to professional expectations, there should be. There’s a gray zone, that’s a difficult line to draw.”
On Monday, attorneys for Quest and Athena filed a motion to dismiss the lawsuit, saying it failed to establish a factual basis for the complaint and failed to plead fraud with sufficient detail, among other things. An attorney for the companies declined to talk to BuzzFeed News about the case.
If Quest and Athena are found to be liable, it could also have a chilling effect on the estimated $3 billion genetic-testing business, noted Laura Hercher, who teaches ethical, legal, and social issues in genetic counseling at Sarah Lawrence College.
“The general idea of this lawsuit makes people who work in the clinical field very nervous,” Hercher said.
Williams was 20 when she gave birth to Christian on Aug. 23, 2005. He was healthy at first, and looking at his blue eyes and dirty brown hair, his mother saw an uncanny resemblance to herself.
By Christmas, Christian began suffering from seizures, according to the complaint filed in February. Two months later, his doctors noted that the seizures were happening two to three times a week, and his speaking abilities were developing more slowly than they should have been, according to medical records made public in the complaint. Doctors thought that Christian might have had a mitochondrial disease, a type of disease inherited partly or fully from the mother.
What is now all but certain, Williams and her lawyers say, is that Christian had a rare condition called Dravet syndrome, which is usually caused by mutations in a gene called SCN1A.
Doctors at one point wanted to see if Williams’ son had this mutation, so in early 2007, they sent his DNA to Athena Diagnostics, a genetic-testing lab that Quest would acquire for $740 million four years later. That June, a report came back to the doctors: Yes, the boy carried a glitch in the SCN1A gene, but it was a “variant of unknown significance.” By Athena’s definition, such variants can affect normal gene activity but “often have no effect.”
According to Williams’ attorneys, Athena should have identified this variant as a mutation that could cause disease. By the time the company released the report, in mid-2007, there were two published scientific papers showing that people carrying Christian’s specific SCN1A mutation had Dravet syndrome. There were also patents used for diagnostic tests of such mutations, according to the complaint. What’s more, a scientist on one of those papers was a top lab director for Athena, and had signed off on Christian’s DNA test report. The scientist, Sat Dev Batish, “clearly knew or should have known that a mistake was apparent,” according to the complaint.
“I didn’t think I had a right to grieve for Christian — it was my fault he died.”
In their motion to dismiss the complaint, attorneys for Quest and Athena counter that the 2007 report made clear that the labs needed DNA from Christian’s mother and father to confirm their son’s test results, which otherwise “cannot be definitively interpreted.” They also point out that the report stated that Dravet was a “possible” outcome. For nine years, according to the motion, the parents ignored an "explicit written notice" that these samples were “strongly recommended” for a complete diagnosis.
“Instead, she brings this lawsuit almost a decade later and attempts to plead around the statute of limitations and statute of repose,” the attorneys wrote of Williams.
Williams told BuzzFeed News she didn’t see the 2007 report at the time. As the years went by, she said she struggled with the burden of passing on a mitochondrial disease to Christian. “I didn’t think I had a right to grieve for Christian — it was my fault he died.”
Tensions between her and Christian’s father led them to separate, and she married her now-husband in 2013. Williams confided in him that she thought she couldn’t have healthy children — then realized that she needed to be tested to know with certainty. As part of those tests, she also wanted to donate Christian’s tissues to research to better understand what had happened to him, she said.
A high school friend, Laurel Coons, who is a graduate student in Duke University’s Integrated Toxicology and Environmental Health Program, helped Williams request the 2007 report as part of the process of getting mitochondrial testing. Williams received a copy from Quest and Athena in late 2014.
Then, in January 2015, the companies sent over an updated version of Christian’s report — one that officially stated, for the first time, that he had a mutation that could cause disease, according to the complaint, which includes copies of both lab reports.
Because the 2007 report had led doctors to reject the idea that Christian had Dravet, he was treated with increasing doses of sodium-channel-blocking medications, according to the complaint. Although these meds are used for non-Dravet epileptic seizures, they can worsen the condition of patients with Dravet. Pediatric neurologist Max Wiznitzer wrote in an affidavit that if Christian’s condition had been properly diagnosed and treated, he “would not have suffered the fatal seizure on January 5, 2008.”
“My guilt has gone from ‘I gave Christian a mitochondrial disorder’ to knowing that I, every night, gave my child medicine that was making him worse,” Williams said.
One key question raised by this case is whether a reclassification of a genetic variant is in fact an “error.”
Genetics as a field is so new and ever-evolving that errors often can’t be helped and aren’t fully realized until later, said Hercher of Sarah Lawrence College. Doctors may even shy away from ordering genetic tests, she said, if they feel they can’t rely on labs’ classifications and don’t have the personal knowledge to make calls about genetic issues.
“It would make it impossible to function as a genetic testing entity if [reclassifications] were considered errors and you were responsible for them,” Hercher told BuzzFeed News. “Because right now, a sizable percentage of the time, every call you make as a lab or a researcher or a clinician may be wrong.”
Genetic-testing-related lawsuits have had mixed verdicts in the U.S., according to Marchant’s research. In 2007, a Florida jury awarded $21 million to a couple who said a physician misdiagnosed a birth defect in their son and led them to have a second child with similar problems. But in February, a Montana jury ruled against a woman who claimed health providers had failed to diagnose her unborn daughter’s cystic fibrosis.
Robert Cook-Deegan, a Duke University genomics policy expert who filed an affidavit on Williams’ behalf, said her case shows that labs are not always held accountable for sharing their findings about genetic mutations. Ideally, Quest and the like would feed their information into databases easily accessible to clinicians and other researchers.
But participation is uneven, and the sheer number of databases — some closed to the public for proprietary reasons — makes it difficult for medical professionals to get up to speed on all the latest research. For example, Myriad Genetics stopped contributing large amounts of breast-cancer data to public databases in 2004 out of fear that the information would benefit its rivals.
“The mistake shouldn’t happen in the first place, the misdiagnosis shouldn’t happen in the first place, but once it was discovered you shouldn’t have to learn about it by requesting a lab result from seven years earlier,” Cook-Deegan said. “There should be a system that basically notifies people: ‘This is a big deal and this is going to affect your treatment. We’re going to make sure you get the treatment you need.’”
UPDATE
This story has been updated to clarify how Quest and Athena's attorneys described Christian's parents' delayed response to the 2007 lab report, in their motion to dismiss the lawsuit.