Since the 1960s, newborn screening for rare diseases such as phenylketonuria and other genetic conditions has been made possible by dried blood spots — samples obtained by pricking babies’ heels and collecting blood drops on filter paper cards that are then sent primarily to public health laboratories. It’s been an effective method that identifies about 6,700 babies born with rare conditions each year, according to the National Organization for Rare Disorders (NORD; Int J Neonatal Screen 2023;9:23).
But in the past 2 decades, long-term storage and use of residual dried blood spots have become embroiled in lawsuits, and in one case, were even used to identify a parent accused of a crime. Because of the privacy concerns that these issues have raised, Congress has not officially reauthorized ongoing funding for newborn screening programs since 2014. Although the programs have continued to receive funding each year, the lack of formal reauthorization means that funding could be reduced or eliminated at any time.
Big variations in state policies for storage
Most states now test for the majority of 30-plus conditions included in the Recommended Uniform Screening Panel (RUSP) for newborns. If conditions are identified, clinicians contact the parents. After that, policies on storage — and whether consent is needed for future research — vary widely by state.
“There are as many policies for retention as there are states,” said Dennis Dietzen, PhD, DABCC, chair of pathology and laboratory medicine at Phoenix Children’s Hospital. Some more conservative states allow storage for 3–6 months, enough to cover the newborn screening window to ensure patients are properly identified and followed up with before the spots are destroyed, he said. Other states have intermediate policies and store dried blood spots from 1–5 years. Tennessee, for example, stores for up to 2 years and doesn’t permit the spots to be used for research.
Another handful of states, including California and Massachusetts, never destroy their spots. Once any diseases are identified and the families are notified, the spots typically are stored without identifying information for future quality assurance or analytic purposes, Dietzen said. In some cases, they are stored with a code that could be tracked back to a patient if needed.
Blood spots are retained by laboratories for various reasons. Labs could keep the cards short-term in case a result appears skewed and needs a retest, to uphold in-house validation and quality efforts to remain compliant with CLIA requirements, and to monitor competency among testing personnel.
But dried blood spots also hold value long-term. “Blood spots can be very stable, especially when we’re talking about the markers we’re looking for in newborn screening, such as amino acids, that basically dry into that paper pretty well. They can be kept in the cabinet for a pretty long period of time — months to years,” said Danyel Tacker, PhD, DABCC, FADLM, medical director of clinical chemistry and mass spectrometry at West Virginia University Hospital in Morgantown, West Virginia.
When spots are maintained long term, laboratories can use them to validate new testing methods or to test for newly characterized diseases. They also provide a rich resource for population studies on various disorders, Dietzen said.
The risk of reidentification
Typically, spots are stored with just minimal information such as gender and birth date, Tacker said. Other means for laboratories to maintain privacy include assigning a dummy ID to a card and maintaining the original information elsewhere. Laboratories are all governed by CLIA regulations, which require them to protect patient information and maintain confidentiality.
“We have built-in guidelines, checklists, and all sorts of systems to make sure that we are protecting private health information as much as possible,” Tacker said. “There are some concerns publicly about bad actors coming in and buying data and then selling it again. Those are valid concerns. But I can tell you that the people that are in newborn screening labs are definitely not in it for a profit scheme. Usually, these laboratories are operating on a pretty slim to negative margin, and they’re doing it strictly for clinical care.”
Reidentification of samples could be possible if a disease is ultra rare and there is one patient a lab has been monitoring long-term, Tacker said. “You would basically know who that person is if you got a specific result back.”
Additionally, technological advancements have improved the ability to reidentify deidentified samples. “The genomic data we dig into now gets paired with fundamental chemistry in a way that we didn’t do, say, 20 years ago,” Tacker said. “Twenty years ago, we were looking at single changes to DNA and saying, ‘Is it there? Yes or no?’ Now we can do whole genome sequencing and we can find variants of a gene that are pretty signature. When we attach that to a general profile or a region, it could trace to a patient or family. That’s something that we really need to have open discussions about in our community — what are we going to do about this?”
It used to be thought of as “really far-fetched” that dried blood spots might be reidentified, Dietzen said. “But I think that we have to consider the risk as real. Is it low? Heck yeah. But it is real.”
One of the first concerns people think about from these spots being identified is the ability to qualify for health insurance coverage, Tacker said. Although the Affordable Care Act stated that insurers could not refuse coverage or charge more because of pre-existing conditions, “there are constant challenges to that stance,” she said. Yet many patients with diseases diagnosed early can live relatively stable, full lifespans, even if their conditions require lifetime management.
Another potential concern is what should happen if the spots are used for research that leads to some sort of commercial application or windfall profit for a company. Should the original owners of the samples be entitled to a cut? It’s something that opponents of long-term storage and secondary use for research point out as risky, Dietzen said. “There are legal reasons, forensic reasons, insurance reasons, medical reasons — all kinds of reasons why you don’t want dried blood spots to be reidentified.”
Building trust through education
Over the past couple of decades, families in Texas, Minnesota, Michigan, and New Jersey have filed lawsuits over continued storage and use of these spots for research without obtaining consent. These cases have made it to the state supreme courts or higher. Officials in Texas and Minnesota had to destroy millions of samples following 2009 rulings. However, as of 2025, the Sixth Circuit court ruled that Michigan’s handling of blood spots did not violate parents’ constitutional rights. A federal judge last year also rejected some New Jersey parents’ claims that the state’s practice of retaining samples violates their constitutional rights. As of October 2025, those parents filed an amended complaint.
The original complaints in New Jersey arose following a 2022 incident in which state police subpoenaed a 9-year-old child’s stored blood spot to link the father to and charge him with sexual assaults from 1996 and 2003.
“The real issue is not so much privacy as public expectations,” said Ellen Wright Clayton, JD, MD, professor of pediatrics, health policy, and law at Vanderbilt University in Nashville, Tennessee. She noted a need for more clarity in the public domain. People expect health-related information to be private, but their expectations are unfounded, she said. Although the primary purpose of the newborn spot collection is to identify children in need of medical care, there are other uses that are possible.
However, Clayton added, “In this very skeptical age, programs need to be worried about whether they are going to compromise their public health function by allowing samples to be used for research.”
Stanley Lo, PhD, professor of pathology and laboratory medicine at the Medical College of Wisconsin in Milwaukee, agreed. “We as practitioners need to be better at providing information to the general public about what newborn screening does and how it works, including what happens to dried blood spots and what they may be used for.” Even medical residents he teaches don’t necessarily know.
“A lot of people believe that parents are the owners of those dried blood spots, and states need to establish strong policies to help maintain that the spots won’t be abused in any way,” he said. “It comes down to education. You should get consent and say this is what we’re going to do and why. My guess is that most people, once they understand what’s going on, would be amenable.”
The reauthorization impasse
Why has this been a stumbling block for congressional reauthorization? Tacker admitted that laboratory professionals are mystified by this. “If you want to benefit a population, you would think newborns with metabolic disorders that are inherited or sporadic would be a key thing to fund. It’s also not a very expensive program, so we’re honestly a little flabbergasted about the idea that this would not be renewed,” she said.
Currently, Congress is doing a year-to-year reauthorization for the program, Dietzen said. The crux of the argument is what’s considered identifiable, and what sort of research might increase the risk of reidentification. “It’s a question that I think is best answered in a project-by-project way, where an institutional review board has to assess those risks and determine if there’s substantial risk to disclosing the identity of those individuals,” he said.
“I think there’s a balance between what’s right to do nationally, and continuing to provide independence at the state level,” Lo said. “Congress is concerned that [the possibility of reidentification] violates the freedom of individuals, so I think they want to make sure that gets resolved before they move on to approve funding.”
Privacy concerns over genetic information span beyond blood spots to commercial retail businesses that specialize in genealogy, such as the now-bankrupt 23andMe, Tacker noted.
“There’s a whole arm of laboratory testing now that is fully commercial and fully bought into by the population. And I don’t know that people give it very much thought when they swab their cheeks to find out what their heritage is,” Tacker said. “There’s all this information floating around, and startup labs doing all sorts of stuff. But if they’re not doing clinical testing, it’s strictly a boutique operation. They aren’t held to the same kind of standards that we are in healthcare. The population needs to be concerned about how data are handled.”
Compounding the issue, public perception of medicine and science “has taken a beating” over the last 3–5 years, Dietzen said. “When folks see scientists making an argument for unfettered use of these things without consent, I think that feeds this conspiracy that we’re all up to no good, and that there are motives other than the health of the children of this country. That’s unfortunate.”
Sound laboratory policies could range from allowing secondary research for everything or restricting it to certain uses. But a lot will hearken back to the language in the original consent form signed by parents (if there was one) and what that allows, which differs by state, Dietzen said. In states that permit long-term storage, the children whose spots are stored age into adulthood and may themselves need to consent to research use.
“Dried blood spots are an amazing tool that has saved the lives of many children and allowed children with what were previously fatal disorders to live normal, healthy lifespans both cognitively and physically,” Dietzen said. “There’s no question [that dried blood spots] are valuable, and we should treat them as the valuable resource that they are.”
Karen Blum is a freelance medical and science writer in Owings Mills, Maryland. +Email: [email protected]