NEW YORK (GenomeWeb) – In the wrongful death lawsuit, Williams v Quest/Athena, the plaintiff's lawyers have submitted a new affidavit from pediatric neurologist Max Wiznitzer, who has stated that as a clinician, he should be able to rely on the results furnished by a high-complexity genetic testing lab when making a diagnosis.
The affidavit is the latest move from Amy Williams' lawyers, who are trying to convince the US District Court in the District of South Carolina to take up their client's case against Quest Diagnostics and subsidiary Athena Diagnostics. In June, the two labs filed a second motion to dismiss the lawsuit, in which Williams is accusing Athena of inaccurately classifying a mutation in the SCN1A gene that the lab detected in her son, Christian Millare, in 2007.
Christian died in January 2008 from a seizure. Mutations in SCN1A are well documented in the literature as causing Dravet syndrome, a rare form of epilepsy that manifests in the first year of life. Approximately 80 percent of Dravet patients have an SCN1A mutation.
Williams is accusing Athena of misclassifying Christian's SCN1A mutation as having uncertain links to Dravet when there was published information available at the time that the same mutation was seen in at least one other child suffering from epilepsy. Based on that misclassified variant, Williams alleges that Christian's doctors continued to give him treatments that worsened his seizures, and that he died as a result.
The plaintiff and defendants now have gone multiple rounds in their bids to convince the court to accept or dismiss this case. Quest and Athena have argued that the six-year statute of limitations for medical malpractice claims has expired since Athena issued the genetic test report in 2007. Williams' lawyers have maintained that she didn't even know about the SCN1A test until 2014 and that their allegations against the defendants amount to ordinary negligence, which under South Carolina law, would allow plaintiffs more time to discover there was a cause for a lawsuit.
In their latest reply, Williams' lawyers attempted to strengthen these assertions, noting that the alleged error in classifying Christian's variant may have been due to a lab technician mistakenly inputting the wrong variant classification category or because Athena did not update its variant database.
"The negligence described … are of a nonmedical, administrative, or ministerial type or result from a lack of routine care surrounding the publishing of test results," the plaintiff's lawyers wrote.
They also continued to push back against defendants' position that the 2007 genetic testing result was inconclusive as to the specific mutation's links to disease, and the assertion that the report contained "conspicuous warnings" that the parents needed to be tested in order to resolve the mutation's classification as a variant of unknown significance (VUS). Because more than 90 percent of SCN1A mutations occur de novo, the plaintiff's lawyers have claimed that parental testing wouldn't have assisted Christian's doctors in diagnosing his condition.
They submitted a new affidavit from Wiznitzer, a pediatric neurologist at Rainbow Babies and Children's Hospital, as further support for their arguments. He had penned an earlier affidavit on behalf of Williams stating that Christian wouldn't have suffered the fatal seizure in January 2008 had he been diagnosed and treated appropriately.
A VUS "classification provides little to no assistance with making a specific diagnosis," Wiznitzer stated in the latest affidavit. "As a treating neurologist, I have a right to rely on the classifications set forth … by Athena, and similar classifications provided by other genetic testing laboratories, when making a diagnosis, and thereafter prescribing treatment for such diagnosis."
Read GenomeWeb's ongoing coverage of this case here.