NEW YORK – Quest Diagnostics is asking a South Carolina federal district court for a summary judgment that a genetic test result its subsidiary Athena Diagnostics produced more than a decade earlier for a young child was not in error based on data available at the time and did not cause his death.
In Williams v Quest/Athena, Amy Williams sued the labs in 2016 alleging that Athena made an error when it tested her two-year-old son Christian and classified a variant in the SCN1A gene as having unclear links to a rare epileptic condition called Dravet syndrome. She has argued that there was enough evidence in 2007, when Athena issued the test report to classify the variant as disease causing. Specifically, she has pointed to a published paper where the same variant was seen in a Dravet patient and which lists Athena's chief director of genetics at the time among the authors. (See our archive of past articles to revisit the detailed history of this case.)
Williams claims that as a result of Athena's misclassification of the SCN1A variant, her son died in 2008 because doctors continued to treat him with drugs known to worsen seizures in Dravet patients. She has said she hopes the lawsuit will spur Quest and Athena to commit to sharing data in public databases, which is already happening to a certain extent. She is also seeking monetary relief for a genetic counseling scholarship and lecture program in honor of her son, and a National Academy of Medicine study on data-sharing standards.
In the fall of 2018, the US District Court for the District of South Carolina determined that most of Williams' claims could move to discovery, among them the wrongful death of her son, a survivorship action, and negligent misrepresentation. The two parties have since been engaged in a lengthy discovery process, during which, Quest this week filed a motion asking the court to issue a summary judgment in its favor.
Based on interviews during discovery with Williams' son's clinical geneticists and treating neurologist, Quest is convinced that even though the lab sent the 2007 report with the SCN1A variant of unknown significance to the appropriate party, none of these providers had seen it. "Defendants’ actions cannot be a proximate cause of [the child's] death and plaintiff’s injuries because, pursuant to the uncontroverted facts, neither plaintiff nor decedent’s physicians ever saw the report or relied upon it in any way," Quest wrote in its motion.
Clinical geneticist John Shoffner ordered the report and his business partner at the time, clinical geneticist Frances Kendall, saw Williams and her son twice since the test report was issued in July 11, 2007, according to Quest's summation of the interviews with these individuals. However, in her summary of the visits, Kendall make no mention of the SCN1A test results, Quest notes in its filing.
Meanwhile, treating neurologist Timothy Livingston apparently also said during discovery that he never knew that such testing had been done and never received the 2007 report. "Moreover, [he] testified that if he had seen the report identifying a variant of unknown significance, he more likely than not would have stopped prescribing sodium channel blocking medications for [the child]," which are known to exacerbate seizures in Dravet patients.
At the time the report was issued, Kendall and Shoffner were also dissolving their practice and were embroiled in legal action. Kendall has claimed in discovery that Williams' son was "never her patient," and it was Shoffner's responsibility to convey the results of the report. Significant portions of Shoffner's sworn statements during discovery, which may shed light on how he handled the test results, are redacted from public view.
"Given the extreme conflict between Dr. Shoffner and Dr. Kendall around the time the report was issued, it is not difficult to imagine that the report, and the … letter mentioning the pending SCN1A test, simply got misplaced and lost during such a tumultuous transition period," Quest told the court in its filing. "Whatever the reason for oversight, it is undisputed that neither Dr. Shoffner nor Dr. Kendall ever looked at the report and that neither one ever sent the report or relayed its result to Dr. Livingston, [the patient's] treating physician."
Quest acknowledges in its motion that it did change classification of the SCN1A variant at issue from a VUS to "disease causing" in the spring of 2009, more than a year after Williams' son passed away from a fatal seizure, and that this change was based on new evidence, though the lab doesn't detail what that was. The lab maintains that it used "professional judgment" using the information available at the time to classify the variant as a VUS in the 2007 report and then as pathogenic in 2009.
As such, Quest argues that the alleged 2007 misclassification is a medical malpractice matter and not the result of "ordinary negligence" and therefore is time barred.
All throughout the case, Quest has pointed to language in the 2007 report that parental testing could determine if the variant arose de novo (not inherited from parents) and if so, then it would make it more likely that the variant was pathogenic, helping to resolve the uncertain classification. It its latest filing, Quest claims it has "strong evidence" that Williams misrepresented the identity of her son's biological father, which is undoubtedly to suggest that she may have knowingly avoided parental testing to keep hidden the identity of her son's biological father.
Williams has maintained that she never knew about the 2007 report until 2014, otherwise she would have submitted to testing back then. By 2014, Quest told the court that the variant's pathogenicity had been established because it had been seen in multiple Dravet cases as occurring de novo.
However, it's not clear whether back in 2007 or at present it has been standard practice for Athena to routinely conduct paternity testing to confirm the biological identity of the father and ensure the accuracy of parental testing for variant classification purposes.
In its motion, Quest accuses Williams and her lawyers of lack of cooperation and obstructing efforts to discover pertinent evidence, which caused the lab to file three motions to compel and a motion for sanctions. In the motion for sanctions, Quest is asking the court to dismiss Williams' claims in the case, impose an adverse interference finding that Williams' allegedly destroyed evidence that would have supported Quest and Athena, and impose fines to cover Quest's costs in the trial.