As DNA testing gallops ahead, doctors face wrenching questions about legal risks, protecting patients’ privacy, and the quality of the genetic information they’re providing—and they need help. That was one message from a symposium yesterday at the University of Minnesota (UMN) in Minneapolis. Leaders of a $2 million project called LawSeq are wrestling with how to push the legal world to catch up to science.
“The genome is static, but our ability to analyze it and interpret it is undergoing dramatic change,” said James Evans, a geneticist at the University of North Carolina in Chapel Hill. “We don’t understand most of these variants, nor their potential impact on health and diseases … and we change our minds a lot, which is kind of frightening for patients.”
One of the biggest concerns is legal liability. Health care providers face a disconnect: Technology has outpaced their ability to interpret genetic results, such as a patient’s risk of breast cancer or heart attack from a particular mutation. Because of that, typical fallbacks including providing a rigorous standard of care—which can also act as a legal shield against malpractice claims—are becoming fuzzy. What is a doctor to do when a patient has results from a direct-to-consumer testing company like 23andMe and asks what implications they have for their health? Or when a lab notifies a doctor that a genetic variant their patient carries, thought meaningless 3 years ago, is now known to be harmful, but they can’t locate the patient? Can a testing lab be held liable for not regularly reviewing the scientific literature, to track science’s understanding of the gene variants it tests for?
“People are going to sue,” Susan Wolf, one of LawSeq’s leaders and a professor of law, medicine, and public policy at UMN, told Science. Patients will sue over what they see as mistakes or about a failure to update them with new information, she said; some lawsuits have already been filed.
New laws, Wolf believes, will need to be written, and new regulations crafted by key agencies such as the U.S. Food and Drug Administration, the Centers for Medicare and Medicaid Services, and the Federal Trade Commission. LawSeq hopes to offer guidance. At yesterday’s symposium, Gary Marchant, a law professor at Arizona State University in Tempe, reeled off potential liability claims that he anticipates as genomics enters clinical care, including failing to test, overtesting, and failing to warn family members about a variant a patient carries that they might, too. “We like bright line rules, but that’s not always possible,” Marchant said.
Marchant and his LawSeq colleagues will outline recommendations to help health care providers, labs, and others guard against various legal risks in a forthcoming paper. One of the most vexing questions is how to handle ever-changing scientific information. A patient may be told that they carry a gene variant but its risk is unknown; 2 years later, scientists may find it raises risk for ovarian cancer. Getting updated information to the original patient can be dizzying: Testing labs need to identify this new information in the medical literature, the labs must find and recontact every doctor who has tested a patient positive for that variant, and the doctors must then recontact their patients. This month, the American Society of Human Genetics (ASHG) released guidelines about researchers’ responsibility to recontact research participants in this situation.
Like ASHG’s guidelines for researchers, Marchant supported physicians recontacting patients in certain circumstances. In a draft recommendation, he urged that physicians be held “legally responsible for taking reasonable steps” to recontact patients they actively treat, if the physician has received updated information that’s clinically relevant.
Wolf, meanwhile, recommended that courts consider the standards that medical professionals are developing to guide the emerging field of genomics. “When someone sues for malpractice,” Wolf explained, the court asks, “Did the physician fail to meet the applicable standard of care?” If the answer is yes, the court asks whether the failure caused harm to the patient. But in genomics, she said, “a real hinge point is, ‘What’s the standard of care?’” Uncertainty reigns, and some standards—like when to offer certain genetic tests and how to interpret their results—exist but are changing fast.
To find out how courts handled the standard of care in medical malpractice suits related to genetics and genomics, Wolf and her student Lauren Clatch identified 30 judicial opinions from 2001, when the draft sequence of the human genome was released, to 2016. The great majority of those opinions failed to refer to any scientific publication or professional society document when they discussed the standard of care, suggesting that judges (unlike doctors and genetic counselors) weren’t routinely relying on these sources of standards and guidance. This suggested a disconnect that was leaving clinicians vulnerable, Wolf said, and she urged education of lawyers and judges to help bring law into closer alignment with medicine.
As LawSeq’s participants write up their recommendations, they’re keeping a close eye on how courts and regulators are reacting to genomics. A recent judicial decision in one long-running case caught their eye: Last year, the South Carolina Supreme Court declared that a testing lab qualified as a “health care provider,” meaning it could be held liable under medical malpractice laws. The case stems from the 2008 death of a young boy, Christian Millare. His mother contends that the testing lab failed to classify as pathogenic the genetic mutation he carried, leading to inappropriate treatment.
With its 3-year project nearing a close, the LawSeq team met behind closed doors today to continue its discussion. Science, meanwhile, continues to charge ahead. At the meeting, a lawyer in private practice inquired about “liquid biopsies,” which are on the cusp of entering the clinic. They purport to find cancers much earlier than physicians do now—but, like many genetic tests, they come with looming questions. A liquid biopsy might suggest a cancer seeding in the body, but it might be too small to detect on imaging technology—and indeed, it might be many years, if ever, before it leads to problems. “I could see lots of causes for [legal action],” Evans said. A patient could experience tremendous anxiety. Or they “don’t get cancer, but go through many tests, including ones with lots of ionizing radiation, maybe invasive tests. … The nightmare scenario is one that I’m sure will play out.”