Deciding to get genetic screening, whether the patient is an infant or adult, can be a challenging choice. This year’s International Consortium on Newborn Sequencing (ICoNS) meeting, held in Boston from October 7 to 8, started strong with a number of talks considering the hard choices and considerations that come with the decision to get genetic testing.

Natalie Ram, JD, professor of law at Maryland Francis King Carey School of Law discussed an often-overlooked aspect of genetic testing: the legal protections to patients. Ram began her talk pointing out that the federal acts many consider protective including Health Insurance Portability and Accountability Act (HIPAA) and Genetic Information and Nondiscrimination Act (GINA) are less protective to individuals than expected.

“Unfortunately… these federal laws protect far less information than most Americans realize and they provide much less protection, even when they apply, than most people think.”

She explained that HIPAA “seeks to protect certain sensitive health information against non-consensual disclosure,” which seems to be protective over genomic data. However, HIPAA only applies to certain protected health information covered by a “health entity,” for example data that is curated in one’s medical health record. Data created and provided by alternate entities, like research programs, are not part of this entity, so it is currently unclear whether, or to what, extent HIPAA applies to this data until it is entered into the medical records under a healthcare provider.

However, even if the data is added to a medical record, it still may not be fully protected. “There are more than a dozen exceptions permitting non-consensual disclosure of protected health information,” Ram added.

The goal of GINA, as Ram explained, is that it “prohibits most access to and discrimination on the basis of genetic information, but only in the context of health insurance and employment.” There are a large number of exceptions to GINA protections, including exceptions for “life, disability, and long-term care insurance or in other domains like education, housing, or other kinds of settings.”

While this information on the limited value of protections for individual’s genetic data may be concerning, Ram clarified that states have developed their own protections in addition to the federally mandated ones provided by HIPAA and GINA.

Patchwork protections

State-level protections vary strikingly, which Ram presented visually using multiple maps that she and her colleagues developed to show state policies regulating the use of genetic information across a variety of additional forms of insurance.

“State laws create a patchwork of policies seeking to regulate the use of and discrimination based on genetic information across life, disability, and long-term care insurers,” she said when showing the first map.

Using life insurance as a primary example, Ram explained that not only do the laws differ between states, but “many states have no policy about this at all. And among those who do, those policies vary quite widely in terms of how those protections operate.”

The level of protectiveness can range from no protection at all, giving insurers permission to consider genetic data in their decisions to a complete ban from considering genetic information in insurance underwriting. Some states provide protections in the middle ground, often requiring consent from applicants for insurers to use genetic data. However, she pointed out that there are significant loopholes that allow insurers to require consent for insurance consideration at all.

Long-term care and disability maps showed a similar patchwork landscape between states in terms of protections. While the patchwork nature of the maps is consistent between examples, the data does not overlay well. One state that may have good protections for individuals for life insurance, may have no protection for disability insurance, and little protection for long-term disability.

Unfortunately, the broader impact of these data and maps underscore the complexity of the situation and how difficult it is for individuals, including parents considering newborn screening, in their decision-making process. Ram concluded this part of her talk stating, “At a minimum, parents should really understand the kinds of risks that developing this kind of information may have for their babies in the future as those babies grow up.”

Unintended genomic data usage

At this point, Ram shifted her discussion to the use of genetic data by law enforcement. While there are only a few cases across the country in multiple states, use–or potential misuse–of newborn genetic screening materials and data is not non-existent.

“Genomic newborn screening or sequencing would generate extensive individual level data that law enforcement might be very easily able to use to identify a suspect for investigation rather than confirm one they already have in mind,” she said. “So what does the legal landscape look like here? “

State-level laws regarding the use of genetic screening material or data by law enforcement agencies was just as patchy between states as the insurance laws were. Ram stated that “more than a quarter of states appear to have no clearly articulated policy that would govern law enforcement access,” though she pointed out that some of these states have not addressed this concern since samples and primary data is destroyed shortly after screening is reported. Of the remaining states, Ram said that “About a third of states have language in their enacted laws or regulations that might allow law enforcement to access either the data or the biospecimens.” Again, there is a middle ground within the legal landscape around protections, and many states have varying levels of protections, even varying in the protection between use of samples or data.

“I think that’s really problematic when it comes to trust and newborn screening, which is something that we think a lot about as we push into genomic sequencing,” she stressed.

Ram stressed that these are just a small sampling of the broader ramifications of using genetic information. She brought up questions on its potential use in education, or how screening programs may be impacted by screening laws, and vice versa. While newborn screening has many benefits for the infants and families that get important and often actionable medical information, the legal, societal, and financial impacts are still in flux.

“I focused here on some of the legal issues at the intersection of genetic privacy and genomic newborn sequencing,” Ram concluded, clearly indicating that there is much more to still explore.