NEW YORK – The Colorado Court of Appeals decided last month that under state law, a mother can sue a hospital and genetic testing company for allegedly not following the standard of care and providing negligent genetic counseling and testing that prevented her from avoiding the risk of conceiving children with a rare muscle degenerative disorder.
Secily Maldonado wanted children but given the history of Duchenne muscular dystrophy in her family, she was worried about having inherited a disease-linked mutation and passing it on to future kids. In a lawsuit filed with the Denver County District Court last year, Maldonado alleged that in 2016, caregivers at Children's Hospital Colorado recommended she get genetic testing to gauge if she carried a DMD gene mutation associated with the heritable disorder, and that they ordered testing from genetic testing firm GeneDx. She claims they told her that the test was negative and she wasn't a mutation carrier.
Six years later, Maldonado and her partner John Carcanaques sued the University of Colorado Hospital Authority at Anschutz Campus, its affiliate Children's Hospital Colorado, GeneDx, and certain employees for negligent genetic testing and counseling that resulted in Maldonado thinking she didn't carry a DMD mutation when she in fact did, leading to the birth of twins: a son who has been diagnosed with Duchenne and a daughter who is a mutation carrier. Maldonado and Carcanaques are seeking damages for the costs of having to care for and educate their children, and they are also seeking damages on behalf of their children, claiming "loss of enjoyment of a natural life." Maldonado claims that had she known she was a DMD mutation carrier, she would have considered adoption or other alternatives.
The defendants sought to dismiss the case, arguing that Maldonado's negligence claims are barred by Colorado's Health Care Availability Act, and the Denver County District Court granted the dismissal. But late last month, the Colorado Court of Appeals partly reversed the lower court's decision, finding that the parents' claims for economic damages they say they're facing due to the wrongful birth of children with a genetic disorder are valid under an exception in the same statute. However, the appeals court agreed with the lower court that the children's wrongful life claims are barred by prior case law.
This is the first time that a division of the Colorado Court of Appeals has interpreted Section 13-64-502(1) of the Colorado Revised Statutes in finding that the parents have "alleged a plausible claim for relief against" healthcare providers for "damages arising from allegedly negligent genetic testing and counseling that could have prevented or avoided the birth of twins with a medical disorder if the professionals and institutions had exercised the ordinary standard of care."
Colorado's Health Care Availability Act, as originally passed in 1988, limited lawsuits against healthcare professionals and institutions for injuries that resulted from a genetic disorder or other natural causes that they couldn't have prevented or avoided by providing ordinary care. A few months after the law's enactment, the Colorado Supreme Court decided that the plaintiffs in Lininger v. Eisenbaum could sue a doctor for the economic hardship of having to raise a second child with blindness, who they said they wouldn't have conceived had the doctor not failed to diagnose the genetic cause of their first child's blindness. "Once referred to as a 'wrongful birth' claim, Lininger directed courts to treat such claims as any other physician negligence action," said Judge Sueanna Johnson, writing the opinion for the appellate court.
Shortly after Lininger, in 1989, legislators amended the Colorado statute to state:
"No claimant, including an infant or his personal representative, parents, or next of kin, may recover for any damage or injury arising from genetic counseling and screening and prenatal care … where such damage or injury was the result of genetic disease or disorder or other natural causes, unless the claimant can establish by a preponderance of the evidence that the damage or injury could have been prevented or avoided by ordinary standard of care of the physician or other health care professional or health care institution."
The interpretation of this amended statute is a critical aspect of Maldonado v. GeneDx as it makes its way through the Colorado court system. Plaintiffs' attorney James Chalat said he was motivated to bring this case because Maldonado's negligence claims are "clearly permissible under the exception in the statute," since she wouldn't have conceived children with Duchenne had the defendants followed the standard of care for genetic testing and counseling.
The defendants are arguing that Maldonado's claims aren't permissible since her son was born with a genetic disease that couldn't have been prevented by ordinary care. "The facts of this case — children born with an unpreventable genetic disorder — fall squarely within the limitations of [Section] 13-64-502," asserted Children's Hospital Colorado in its motion to dismiss the case. "If this court declines to apply the statute under the facts of this case, it would render Section 502 meaningless, as there could be no conceivable case where it would apply." Children's Hospital Colorado didn't respond to a request for comment for this article before publication. A GeneDx spokesperson said the firm doesn't comment on pending litigation as a matter of policy.
Given the increasing use of genetic testing in healthcare, legal experts are tracking the outcome of cases like Maldonado v. GeneDx and are interested in whether the Colorado Supreme Court will weigh in on the permissibility of Maldonado's wrongful birth claims under the state statute. "I would think the Colorado Supreme Court will take it," said Kirk Hartley, a partner at Law Science Policy Group and principal at ToxicoGenomica, a group that consults clients on the use of genomic information in civil litigation. "State supreme courts recognize a duty, rather like the Supreme Court of the US, to provide clarity for the lower courts."
A mutation in the family
Duchenne is caused by one of several mutations that hinder the body from producing dystrophin, a protein critical for muscle strength. Because Duchenne is an X-linked recessive disorder, the symptoms of the condition show up primarily in males, having only one X chromosome. While girls can inherit a DMD mutation, they rarely manifest symptoms of the disease since the normal DMD gene on one of their two X chromosomes can typically facilitate normal dystrophin production. Patients with Duchenne show signs of muscle weakness in the first few years of life, but the symptoms worsen, and they eventually become wheelchair bound. Most patients die of cardiac failure before age 30.
When Maldonado was allegedly advised by healthcare providers at Children's Hospital Colorado to get genetic testing in 2016, she knew some of her relatives had Duchenne and carried a DMD mutation (c.8196delA). She received DMD testing from GeneDx, and in December 2016, the plaintiffs allege that Maldonado received a letter signed by a genetic counselor at the Children's Hospital Colorado that the test was negative, and in bolded and large-cap lettering, said: "This means that you are NOT a carrier of DMD." Maldonado says she was not warned by healthcare providers at the hospital that there was a chance that this could be a false-negative result and further alleges that a nurse failed to test her for elevated levels of creatine kinase, a marker indicating muscle damage that is often part of diagnostic workups for Duchenne.
Thinking she wasn't a DMD mutation carrier, Maldonado had twins, but when in the summer of 2022, her son started feeling ill, further genetic testing through a different lab, Invitae, revealed he had the familial DMD mutation. Her daughter was also found to be a mutation carrier. Maldonado got retested, too, and found out she in fact was a carrier of the same mutation.
Had GeneDx identified the DMD mutation Maldonado harbored or had healthcare providers at the Children's Hospital Colorado asked for retesting or evaluated her creatine kinase levels as part of Duchenne diagnostic workups, Maldonado "would have made an informed decision not to have biologic children and her children would not suffer from a fatal disease," according to her complaint.
Furthermore, Maldonado asserts that "the failure of the GeneDx defendants and their employees, in 2016, to detect the DMD variant violated the ordinary standard of care to be exercised by the health professionals, laboratory technicians and diagnostic professionals who managed, handled and interpreted the results."
The potential reasons for the alleged false-negative result are not yet known, according to Chalat, since the defendants pushed for this case's dismissal and there has been no discovery. "We do not know yet what happened … whether it was the sample, the recordkeeping, if there was an error in the testing, [or] whether there was an error in the reporting," Chalat said.
Maldonado claims she never saw the genetic test report from GeneDx before she conceived her children. "She understood based upon the letter that she had been furnished [by the hospital] that the testing results were negative," Chalat said.
In addition to arguing that Maldonado's claims are barred under Colorado Statute 502, GeneDx asserted in its motion to dismiss that the plaintiff's claims against the lab should be dismissed because she never relied on the actual test report but the hospital's interpretation of it.
"Indeed, she does not allege that the interpretation of the report was accurate or contained all the information set forth in the report actually issued by GeneDx, including but not limited to testing limitations described therein," the genetic testing firm stated in its motion in September 2023. "Put simply, plaintiffs cannot have relied on a report they never received and have provided no factual allegations within the complaint as to how GeneDx or its employees fell below the standard of care."
GeneDx, originally founded in 2000 by former National Institutes of Health scientists, has undergone significant changes in ownership in recent years. It was acquired in 2006 by BioReference Laboratories, which was scooped up by Opko Health in 2015. Sema4 then bought GeneDx from Opko Health in 2022, but after a period of economic hardships, rebranded itself as GeneDx last year.
In April 2023, Maldonado requested her designated record set from GeneDx under the Health Insurance Portability and Accountability Act, and the lab provided it later that September. The information in those documents further reinforces the plausibility of Maldonado's allegations against GeneDx, the plaintiff said in response to the lab's motion to dismiss. Maldonado now alleges that GeneDx had records from her nephew with Duchenne who had the familial DMD mutation.
"GeneDx thus knew exactly which gene variant was the object of its test. It rendered an incorrect result and report for a false negative, occasioned [by] GeneDx's negligence — not by an inherent property of the test," Maldonado states in her response. The plaintiffs allege that GeneDx still hasn't furnished all the underlying test data that may explain the false-negative result.
At this stage, in deciding whether the plaintiff is making a valid claim, the appellate court assumes the plaintiff's allegations are true, said John Conley, a professor at the University of North Carolina School of Law, who specializes in legal issues surrounding biotechnology advances including genetic testing. If the plaintiff is alleging the genetic testing company produced a false negative, and that wrong result was communicated by the doctors to the patient, "then there may be a chain of causation linking the lab to the patient," Conley said.
What does the statute allow?
Ultimately, the question the Colorado appellate court addressed, as plaintiffs' lawyer Chalat put it, was: "What does the statute allow" when it comes to negligence claims arising from genetic counseling or testing? Chalat has argued that Section 502 of the statute "clearly has an exception that allows medical malpractice cases arising from negligent conduct in connection with screening and testing, provided that these claims are based upon a breach of the standard of care."
"The court of appeals got it right," Chalat said. "It's a very clear statute."
In its motion to dismiss the case, on the other hand, Children's Hospital Colorado interpreted that the statute "does not allow recovery of unpreventable damages caused by untreatable genetic diseases." Defense lawyers drew on the history of Section 502's enactment to argue that lawmakers intended to hinder just the types of claims Maldonado brought.
For example, lawyers for the hospital cited statements that Al Meiklejohn, former Republican Colorado senator and Section 502's sponsor, made on the Senate floor in 1988, suggesting the statute's aim was to make "unlawful the bringing of a lawsuit for genetic or natural problems with a baby" because "paying claims for genetic or natural problems … is nothing short of extortion and should be stopped." Meiklejohn passed away in 2010.
GeneDx similarly interpreted the statute as barring Maldonado's claims arising from genetic testing or screening, and argued in its motion to dismiss that the children's condition "is the result of the genes they inherited, not from any genetic testing that was performed or analyzed by the GeneDx defendants, and neither has a right of action for wrongful birth under Colorado precedence."
While the district court was convinced by the defendants' interpretation, the appellate court was not. Appellate court judge Johnson reasoned that legislators amended the statute in 1989 after considering the state Supreme Court's decision in Lininger, adding the word "damage" and including a statutory exception allowing claims for "damage or injury" resulting from a genetic disease that could have been "prevented or avoided" by standard care.
The district court's dismissal based on the reasoning that the "damage or injury" in this case was the birth of a child with Duchenne, Johnson wrote, doesn't give proper weight to all the words in the amended statute and doesn't reflect lawmakers' intent. She pointed out that since the amended statute does allow claims for damages or injuries that could have been avoided or prevented by standard care, for Maldonado that could mean avoiding entirely the chance of conceiving children with Duchenne and preventing the expense of caring for children with a genetic disorder.
"The district court erred by conflating the type of medical negligence — here, one involving genetic counseling or screening — with the separately provable 'damage or injury' — meaning the loss or harm caused by the allegedly substandard counseling or screening," Johnson wrote. "Surely the label given to the type of medical negligence cannot determine the scope of the medical professionals' liability."
The appellate court is interpreting the statute as allowing different categories of damages for negligence cases, Conley explained. "If you focus on the child with the genetic disease, then the doctors and the genetic testing company can't be held liable because it is a genetic disease that couldn't be avoided or prevented," Conley said. "But if you focus on the mother and the decision to have a child, then there's a different kind of damage. It's economic. It's the cost of having to provide for these twins.
"And if we assume everything in the complaint is true, then the appellate court is saying there is a violation of the standard of care," Conley continued. "It's a fine but a significant distinction of law."
Lawyers and courts follow "rules of construction" to interpret statues, which state, for example, that they should apply the law's plain language meaning and accept that every word in the statute is there for a purpose. In Hartley's view, the appellate court correctly construed the statutory language, legislative history, and prior case law such as Lininger in allowing the parents' claims. He acknowledged though that skilled lawyers know how to apply the rules of construction to their advantage. "There is a rule of construction that can get you to any result you want, and you could probably get a statue to say the sun rises in the West if you really wanted to," Hartley said.
Moreover, lawmakers aren't always explicit as to why they're advancing or amending a particular statute, which can lead to lawsuits with parties asserting alternative interpretations. If the Colorado legislature really "intended to cut off any cause of action" for claims related to genetic testing or counseling in wrongful birth cases, "they really should have said it very forcefully … and they should have to also answer to their public for having done that," he said.
Headed to the Colorado Supreme Court?
More than two dozen US states allow wrongful birth claims, but most, including Colorado, don't recognize wrongful life claims. In the latter, parents typically allege on behalf of their children that they would not have been born had the healthcare provider not been negligent and seek damages for the hardships of having been born with an impairment. In Lininger, the Colorado Supreme Court recognized the plaintiffs' wrongful birth claims but didn't recognize the wrongful life claims, reasoning that even if a child is born with impairments, it isn't a detriment when compared to not being born at all.
In Maldonado v. GeneDx, the plaintiffs have argued that the court should revisit this past case law on wrongful life lawsuits, though the appellate court affirmed the district court's dismissal of those claims. "Wrongful birth and wrongful life are loaded terms," said Hartley, but he pointed out that when courts have recognized such claims, they've done so by looking at the "economic reality" of having to care for children born with an impairment.
In cases like this, Chalat said there's a chance that the defendants may file a petition for certiorari to the Colorado Supreme Court, asking it to weigh in on the permissibility of Maldonado's claims under the Colorado statute.
Hartley and Conley were both unsure whether other states have similar statutes specifically addressing negligence claims arising out of genetic testing and counseling. To the extent that genetic testing is increasing in medicine, and with it, the risk of errors, Maldonado v. GeneDx "might be a precedent-setting case" in Colorado, Chalat said, adding that he wasn't aware of the statute language when he took this case, but decided to do so after considering the facts. "I know Children's Hospital quite well, and it's an excellent institution. This is not meant to reflect poorly on the institution. … This was an isolated screw up," he said. At the same time, Chalat said he "wouldn't have signed the complaint, unless the record reflected that there was a deviation from the standard of care in terms of an allegation to be made."
Meeting Maldonado's children was another motivator for Chalat. "Once you meet those kids, your heart just goes out to them," he said. "If I can do something for them, I'll do it."