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The FDA, GINA, and variants of unknown significance all muddy the waters of genomic research and data storage.
“Thanks for sticking around to hear the legal talk,” opened Sharon Zehe in her speech at the Precision Medicine Summit in Boston. Zehe is an attorney for the Department of Laboratory Medicine and Pathology at the Mayo Clinic, and Mayo Medical Laboratories. Her task is not an easy one: navigating the ever-changing seas of potential legal issues associated with the use of genomics.
Her talk focused on four main areas: the FDA’s position on approved tests and uses, the state of payment for genomic testing, considerations of privacy and discrimination,
The FDA struggle begins with two draft items published in the last few years. Since 2010, Zehe said, the FDA has indicated a want to regulate and clear genomic lab tests. In 2015, they published a draft regulatory framework. The Mayo attorney was intent on making clear the difference between consumer genomic testing kits, subject to FDA oversight, and the activities of major research laboratories such as those at the Mayo Clinic, which she says launches about 150 new tests per year (not all genetics-based, of course). Were every single one subject to an FDA approval, a good deal of research would grind to a halt.
“You’ve heard us called the Wild West,” she said, “You’ve heard it said that we just tweak stuff on the fly, and that’s not true…the regulatory framework within the FDA is very cumbersome and difficult for us to deal with,” stressing the importance of keeping an open dialogue on how research institutions differ from consumer manufacturers.
Issues of billing were second on Zehe’s radar. She entered the topic by talking about pharma companies teaming with laboratories to offer free testing to diagnose diseases.
“Pharma is not doing that just to be altruistic,” she said, “they want data.” That arrangement raises issues of patient data sharing as it relates to HIPAA.
The other “creative” reimbursement plan that Zehe perceives are labs that offer guaranteed caps and waive co-pays. “It sounds like a really good deal, but there are some issues with that,” she said, “Some of this genetic testing can be pretty expensive, and there’s a lack of CPT availability…and it doesn’t always have that easy tie-in to a CPT code, so you’re not always getting reimbursed for those.” Many health insurance providers just haven’t been convinced that all the sorts of genetics work actually results in fewer costs for the patients. Zehe stresses an ongoing effort to bring such evidence to insurance providers, but acknowledges a climb there.
Several lawsuits are calling out fee forgiveness and copay waiving practices, claiming a tortious interference with their contract with the patient, a breach of their plan. Some state laws against “deceptive and unfair trade practices” can be construed to support that position, and United Health even sent a memo out to laboratories discouraging them from covering testing costs for such reasons.
Genomic privacy issues are complex, and were third on the docket. Genetic data is considered PHI only once it has been interpreted: the raw sequence itself is not. Lifestyle and background information, to Zehe, are where the value really begins to build for such data. Many states are attempting to legislate to protect patients from having that data used in research without their knowledge.
To the attorney, it comes down to a matter of consent for research as opposed to waived consent: there’s an exception to the Office of Human Research Protections reporting requirements as it concerns de-identified data. “All of these organizations are building these databases, and most of the patients don’t even know that their data is being stored there,” she said. The goal is less to cull patient data, she thinks, than it is to build better tests.
Legal issues often arise around consent to data storage, and the landscape is still slowly taking shape. The Bearder v. State of Minnesota lawsuit sought to eliminate the storage of newborn blood spots as automatic practice, without consulting the parents. In Zehe’s perspective, the hospitals were “trying to make newborn screening tests better” but a loss in the court case resulted in a “tragedy” where a million newborn blood spots used for research, as well as 10 million records, had to be destroyed. State law as a result requires consent for storage.
Playing into privacy issues are those of discrimination. The Genetic Information Nondiscrimination Act has been law since 2008, preventing employers and health insurers alike from considering sequencing when offering jobs or plans. The Act, notably, does not apply to life, disability, or long-term care insurance. This is key because it leads patients to sometimes want to keep genomic sequencing information out of their medical records to avoid such information being discovered when applying for other insurances, but for the sake of health it has to go in, due to its informative value, and the potential ramifications of Zehe’s final focus.
Variants of unknown significance were the last, and maybe trickiest, potential legal liability in genomics. She used the example of Williams v. Quest/Athena (Quest Diagnostics and its Athena subsidiary), a case in South Carolina that has been ongoing for a decade. In 2007, Athena reported an SCN1A mutation, a so-called variant of unknown significance, in the genome of a two-year old who had begun having seizures not long after birth. The child later died, around the time that SCN1A mutations were linked to Dravet Syndrome. The case argues that since such significance was emerging in advance of the child’s death, it was on Athena to inform his doctors and parents.
The case is ongoing. “This is one that keeps me up at night,” said Zehe. “If the court finds that the laboratory should have done more, it really does change the standard of care for all of us, really.” In cases of malpractice, she says, parties are to be judged by what medicine knows and does at the moment of the accused act, not what is later known to be correct. That case currently sits before the South Carolina Supreme Court, where the current division lies over whether Athena is to be defined as a “healthcare provider” and thus be subject to the responsibilities of that concept.