Establish Data Standards To Protect Newborn DNA Privacy by Developing Data Storage Standards for Newborn Screening Samples
Newborn screening is performed on millions of babies in the U.S. every year to test for rare genetic diseases and, when necessary, allow for early treatment. While newborn screening is mandated by the federal government, each state runs its own screening program. Importantly, individual states manage how newborn screening data is stored and, potentially, accessed and used in the future. While such data is often used for quality assurance testing and clinical research, there have been instances of law enforcement subpoenaing newborn screening data for use in criminal investigations. For example, New Jersey used newborn screening data to investigate a decades-old sexual assault This raises major concerns about overall transparency of data use and privacy in the newborn screening process.
The incoming administration should encourage states to develop data handling standards for newborn screening data. Specifically these standards should include how long data is stored and who can access it. This can be accomplished by directing the Health and Human Services’ (HHS) Federal Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to provide recommendations that clearly communicate data use and privacy measures to state health departments. In addition, the incoming administration should also encourage development of increased educational materials for parents to explain these privacy concerns, and create funding opportunities to incentivize both of these measures.
Challenge and Opportunity
Newborn screening is a universal practice across the United States. Blood samples are taken from infants only a few days old to test for a variety of genetic diseases such as phenylketonuria, which can cause intellectual disability that can be prevented through changes in diet—if it is caught early enough. These blood samples can be used for both metabolic and genetic tests, depending on which disease is being tested for and how it is detected. Phenylketonuria, for example, is detected by high levels of a molecule called phenylalanine in the blood, while spinal muscular atrophy (SMA) is detected by changes in the genetic sequence of the gene associated with SMA. Newborn screening is an essential practice that identifies a wide range of severe diseases before symptoms occur, and three babies out of every 1,000 are identified with a genetic condition.
While newborn screening is required by the federal government, each state can determine which panel of diseases are tested. The Department of Health and Human Services established an Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), which regularly updates a Recommended Uniform Screening Panel (RUSP) with conditions. For example, SMA was approved to the RUSP in 2018, and all 50 states have now added SMA to their screening panels. Much of the effort to both nominate conditions to the federal RUSP and to encourage individual states to adapt spinal muscular atrophy testing was led by patient advocacy groups such as CureSMA, and these sorts of groups play a significant role in the addition of future conditions. Similar efforts are underway for Krabbe disease, which was added to the RUSP in 2024 and is currently screened for in only twelve states, a number that may increase in the coming years as more states consider adding it to their panels. State advisory boards will review new disease nominations and, along with their status on the RUSP, will often consider how prevalent a disease is, if there are treatments available for the disease, and cost-effectiveness of screening for this condition. Regardless of which tests are performed, every state participates in newborn screening. Importantly, newborn screening does not require affirmative consent from parents—some states offer opt-out options, generally for religious reasons, but 98% of infants are screened.
Mandatory newborn screening programs have led health departments across the country to obtain genetic data from nearly every child in the country for decades. With recent developments in genetic sequencing technologies, this means that, theoretically, this newborn screening data could be repurposed for other functions. In 2022, the New Jersey Office of the Public Defender filed a lawsuit against the New Jersey Department of Health for complying with a subpoena to provide newborn screening data to the police as part of a sexual assault investigation. Specifically, law enforcement subpoenaed the blood sample of a suspect’s child, which they used to perform new DNA analysis to match DNA crime scene evidence. The lawsuit reveals that the New Jersey Department of Health has retained newborn screening blood spots for over twenty years; that the data obtained from the subpoena was used to bring criminal charges for a crime committed in 1996; and that the Office of the Public Defender were not provided information about how many similar subpoenas have been complied with in the past.
This case highlights the bigger issue of newborn screening data as the United States’ “hidden national DNA database.” Law enforcement has potential access to decades of samples that can be used for genetic analysis that were not intended for law enforcement use. Police in other states like California have also sought access to newborn screening databases for investigational purposes. In California, the state health department keeps samples indefinitely, and not only is this information not disclosed to parents, it no longer provides parents with an opt-out option. As law enforcement agencies across states begin to understand the magnitude of data that can be found in these databases, it is becoming clear that health department policies for regulating access to these data are lacking.
Using genetic data in law enforcement has become increasingly common. The practice of “investigative genetic genealogy,” or IGG, has made national headlines in recent years, in which law enforcement can access genetic data from publicly available databases to use in criminal investigations. These databases are full of genetic data that consumers who participate in direct-to-consumer genetic testing, such as 23andMe, can use to voluntarily upload and share their data with more people. IGG presents its own privacy concerns, but it is important to recognize the voluntary nature of both (a) participating in direct-to-consumer testing and (b) uploading it to a third-party website. Newborn screening, on the other hand, is not an optional practice.
Proponents of IGG argue that using genetic data is very effective at not only catching killers—and doing so quicker than without DNA data—but also exonerating innocents. However, this fact does not outweigh the major issues of privacy, transparency, and the fact that this approach potentially violates the fourth amendment’s protections against unreasonable search and seizures—especially when it comes to incorporating newborn screening data into these approaches. A previous court case found a hospital in violation of the fourth amendment for providing law enforcement with warrantless drug screening results from pregnant women, even though the women were under the impression they were receiving diagnostic tests. The Supreme Court argued that the hospital’s actions break down public trust in the health system, as patients have a “reasonable expectation of privacy” regarding their test results. While cases of subpoenaing newborn screening data may not currently violate any legal procedure, allowing law enforcement access to these data for use in future investigations, particularly without informing the individuals or parents involved, may also erode trust in the health system. This may lead to parents—when given the option—to opting out of newborn screening programs more often, leading to an increase in genetic and metabolic disorders going undiagnosed in newborns and causing major health problems in the future. In addition, with many scientists advocating for adopting whole-genome sequencing of newborns—instead of simply sequencing a panel of genes that are commonly identified as disease-causing in newborns—the amount of potential available genetic data could be staggering. As a result, the incoming administration needs to take action to address the lack of transparent policies regarding newborn screening data in order to maintain its success as a public health measure.
Plan of Action
Current genetic privacy legislation
The landscape of genetic privacy legislation is, currently, somewhat patchwork. At the federal level, the most relevant legislation includes (1) the Genetic Information Nondiscrimination Act (GINA), (2) the Affordable Care Act (ACA), and (3) the Health Insurance Portability and Accountability Act (HIPAA). GINA specifically prohibits genetic discrimination in health insurance and in the workplace. This means that health insurers cannot deny coverage based on genetic data, and employers cannot make hiring, firing, or promotion decisions based on genetic data. The ACA strengthens GINA’s stipulation against genetic discrimination in health insurance by mandating that any health insurance issuer must provide coverage to whomever applies, as well as including genetic information on the list of factors that cannot be considered when determining overage or premium costs. HIPAA additionally regulates genetic data gathered in a healthcare setting, which includes newborn screening data, but HIPAA-protected information can be shared at the request of a court order or subpoena. The FBI developed an interim policy regarding all types of forensic genetic genealogy—often used with direct-to-consumer genetic tests but could also be applicable to newborn screening—which states the criteria required for investigators to use this approach. Criteria includes the requirement that a case must be an unsolved violent crime. In addition, the interim policy states that investigative agencies must identify themselves as law enforcement—a previous case was solved by accessing genetic databases without disclosing this information to the database—and that any collected data must be destroyed upon conclusion of the case.
Additionally, many states have additional laws that strengthen genetic privacy regulation on top of federal regulations. Maryland passed a bill that regulates the use of genetic data in criminal investigations—specifically, it requires that law enforcement obtains informed consent from non-suspects before using their DNA in investigations. Other recent state regulations that address law enforcement access to genetic data in one way or another include Montana, which requires government agencies to obtain a warrant to access genetic data, and Tennessee, which explicitly allows law enforcement to access genetic data as long as they obtain a warrant or subpoena. Importantly, many of these laws are geared more towards addressing genetic data from direct-to-consumer testing and do not directly apply to newborn screening. Like federal legislation, state genetic privacy legislation is largely lacking in policies to address the use of newborn screening by law enforcement.
On top of legislation regarding genetic privacy, states all have their own respective policies regarding newborn screening that vary dramatically. For example, a court in Minnesota found that nonconsensual storage of newborn screening data for use outside of genetic screening purposes violates the state genetic privacy law stating that genetic information can only be distributed with an individual’s written consent, leading to Minnesota destroying its newborn screening samples. Other states have no legislation at all. Additionally, states can have laws addressing other, non-law enforcement uses of newborn screening data; another major use of newborn screening data is research.
Policy Recommendations
The incoming administration should address the lack of transparency in newborn screening data management by implementing the following recommendations:
Direct the ACHDNC to develop national recommendations detailing standards for newborn genetic screening sample and data handling.
These standards should include:
Standards for what the data can be used for outside of newborn screening, and by whom. Newborn screening data is used in additional ways outside of law enforcement; it can also be used for quality assurance to help ensure tests are working properly, to help develop new tests, and in clinical trials. There are compelling arguments for these uses; for clinical research, for example, this data can contribute towards research studying the disease the child may have been diagnosed with. However, for the sake of transparency, policy should state specifically what newborn genetic data can and cannot be used for, and who is allowed access to the data under these circumstances. For instance, Michigan has a program called the Michigan BioTrust, which takes the leftover, de-identified newborn screening samples for use in research towards understanding disease. Parents can choose to opt in or out at the time of screening, and parents—as well as children, upon turning 18—can change their mind and have their data removed later if they so choose. Regardless of state decisions on whether law enforcement should be able to access their newborn screening data, clearly stating what the data can be used for overall is paramount for parents to understand what happens to their children’s samples.
The length of time that blood samples and genetic data can be stored in state databases, and when, if ever, the data will be destroyed. As detailed by the lawsuit, New Jersey had been storing samples for over twenty years, although parents were not actually aware of this fact until the lawsuit was filed; potentially in response to this lawsuit, starting in November 2024, New Jersey will be destroying blood spots older than 2 years. Similarly, Delaware stores blood spot samples for three years before destroying them. While there is no definitive answer to what the best timeline for saving samples is, establishing a transparent timeline for how long samples can be stored in each state will improve data handling transparency.
What say, if any, do parents have in what is done with their child’s samples and data. In Texas, after a lawsuit determining that storing newborn screening samples without consent was against the law, parents have the right to request their child’s samples be destroyed if they so choose. Developing policies that allow parents—or children themselves, once they become adults—to have a say in what happens to the samples after screening is completed would provide individuals control of their data without disincentivizing testing.
Partner with state advisory boards to develop educational materials for parents detailing ACHDNC recommendations and state-specific policy.
While newborn screening is mandated, there is variable information available to parents regarding what is done with the data. For example, Michigan has an extensive Q&A page on their Department of Health website addressing many major newborn screening-related questions, including a section addressing what is done with samples after screening is complete. In contrast, West Virginia’s Q&A page does not address what happens to the samples after testing. Not only would developing standard policies for data handling be beneficial, but improving the dissemination of such information to parents would increase overall transparency and improve trust in the system. The incoming administration should work closely with state advisory boards to improve the communication of newly-developed data handling standards to parents and other relevant parties.
Incentivize development of plans by providing grant opportunities to state health departments to support newborn screening programs.
Currently, newborn screening programs receive no direct federal funding; however, costs include operating costs, testing equipment, and personnel on top of the tests themselves. In general, newborn screening is paid for through a fee for the tests, which are often covered by the parents’ health insurance, or the State Children’s Health Insurance Program or Medicaid. However, grants such as the NBS Co-Propel have been awarded to states in the past for creating improvements in their newborn screening programs such as support for long-term follow up on patients that have positive test results returned to them. The Co-Propel grant was administered through the Maternal & Child Health Bureau (MCHB) of Health and Human Services; the incoming administration could recommend that MCHB initiates a new funding opportunity for states to either develop data storage standards and/or educational materials for families to encourage the adaptation of these standards.
Conclusion
Newborn genetic screening is an essential public health measure that saves thousands of lives each year by identifying diseases in newborns that can either be prevented early or treated immediately rather than waiting until severe symptom onset. However, with the advent of new genetic technologies and the burgeoning use of newborn genetic screening data in law enforcement investigations, major privacy and transparency issues are becoming known to parents, potentially putting trust in the newborn screening process at risk. This could reduce desire to participate in these programs, leading to an inability to quickly diagnose many preventable or treatable conditions. The incoming administration should work towards encouraging state health departments to develop clear and well-communicated data storage standards for newborn screening samples in order to combat these concerns moving forward.
This action-ready policy memo is part of Day One 2025 — our effort to bring forward bold policy ideas, grounded in science and evidence, that can tackle the country’s biggest challenges and bring us closer to the prosperous, equitable and safe future that we all hope for whoever takes office in 2025 and beyond.
Newborn screening is performed by pricking a newborn’s heel to obtain a blood sample, or “blood spot,” within two days of being born. These blood spot samples are used for both metabolic tests and genetic tests. Metabolic tests measure different molecules in the blood that might signal a disease, such as high levels of an amino acid called phenylalanine, which in healthy amounts is used by our bodies to make proteins and in high amounts can cause phenylketonuria. Genetic tests are performed by sequencing a panel, or selection, of genes that are often associated with newborn screening diagnoses; often, genetic testing is performed after a positive hit on a metabolic test to both confirm and further clarify the diagnosis.
The role of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) is to communicate with the Secretary of the Department of Health and Human Services regarding newborn screening policies. This not only includes managing the Recommended Uniform Screening Panel, but also providing advice on grants and research projects related to newborn screening research, assistance with developing policies for state and local health departments for newborn screening implementation, and recommendations towards reducing child mortality from the diseases screened.
The Recommended Uniform Screening Panel (RUSP) is the list of disorders recommended for newborn testing. As of July 2024, the RUSP contains 38 “core conditions,” which are conditions that states specifically test for, and 26 “secondary conditions,” which are conditions that physicians may identify incidentally while screening for core conditions. New conditions can be added, and conditions can be moved between categories if the advisory board chooses to do so. These conditions include metabolic disorders such as phenylketonuria, endocrine disorders such as thyroid disorders, hemoglobin disorders such as sickle cell anemia, and others such as cystic fibrosis.
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