Newborn Screening Blood Spot Retention And Reuse: A Clash Of Public Health And Privacy Interests


Before leaving the hospital, most babies in the United States are screened for multiple genetic, endocrine, and metabolic disorders and conditions. The first part of the screening process consists of a blood test performed by pricking the baby’s heel and collecting a small amount of blood on a filter paper card to create a dried blood spot (DBS). This DBS card is sent to a state public health laboratory to test the newborns for between 28 and 75 conditions, depending on the state.

States typically retain the DBS after confirming the results of initial newborn screenings. Retained DBS can be used for many reasons, including improvement of testing instruments and research to further the ability to test newborns for additional conditions. However, legal challenges have pushed back against various state retention policies and specific uses of the DBS, from secondary research to law enforcement investigations. These challenges have raised privacy considerations that should be factored into state privacy policies.

Public Health Benefits Of Newborn Screening, Dried Blood Spot Retention

Newborn screening became possible in 1960s when a National Institutes of Health scientist, Robert Guthrie, MD, PhD, developed a mass screening test for the metabolic disorder phenylketonuria. Sickle cell anemia become detectable through newborn screening in the 1970s. Over the years, as advancements in technology made it possible to detect an increasing number of heritable conditions, states adopted requirements for screening.

Newborn screening is also a vital tool to advance broader public health objectives. Retained DBS play a necessary role in calibrating newborn screening equipment for all newborns. Research using retained DBS can uncover the epidemiology of infectious diseases, population-based exposures to environmental agents, and underlying reasons for birth defects or developmental disabilities. For example, researchers used retained DBS taken from babies born near the Rocky Mountains, where mining sites are common, to determine maternal exposure to lead and mercury. In the 1990s, retained DBS were tested to identify newborns exposed to HIV in utero.

Retained DBS are also used to develop new tests for newborn screening, allowing early detection of a growing number of conditions. If research shows that a new disease can be detected using retained DBS, it may be added to the state’s newborn screening panel so that all newborns in that state will be screened for it and have access to early, lifesaving interventions. For example, studies conducted in Minnesota using retained DBS demonstrate that newborn screening could be used to reliably detect congenital cytomegalovirus (cCMV) in newborns. And earlier intervention for those newborns could help to improve or mitigate hearing, speech, and other neurodevelopmental outcomes. Following research using the DBS, earlier this year, Minnesota became the first state in the country to routinely screen newborns for cCMV.

State-Informed Consent Policies For Newborn Screening, DBS Retention And Research Use

Like other medical procedures, informed consent is necessary prior to the collection and use of the DBS for newborn screening. However, states vary in when and how consent may be obtained. In some states, such as Iowa, newborn screening is conducted by default, but parents may refuse newborn screening for any reason, and their refusal is documented in the newborn’s medical record. In Texas and New Jersey, parents may only opt-out of newborn screening for religious reasons. Nebraska does not allow parents to opt-out of newborn screening for any reason.

The retention of the DBS raises a second, distinct informed consent consideration. Informed consent is typically required prior to any human subjects research involving identifiable individuals. However, under the federal Common Rule, non-identified biospecimens such as the DBS are not subject to informed consent requirements. Accordingly, state law will determine if, when, and how consent must be obtained to use the DBS for future research. Akin to the variability with respect to consent processes for newborn screening among states, the processes of obtaining informed consent to reuse retained DBS for secondary research also vary from state to state.

Research conducted using the DBS raises a third, distinct informed consent consideration.In Michigan, birthing hospitals and midwives give parents the option of signing a consent form after delivery to opt-in to future medical research; as mentioned above, parents may opt-out later. In Texas, parents must give their consent to health care workers for DBS retention at the same time they consent to newborn screening. In Nebraska, the DBS are retained for 90 days, after which the specimen may be used for research but only if the parent provides written consent.

To complicate matters further, DBS retention policies also vary from state to state. In New Hampshire, DBS are only retained for six months, which is long enough for newborn screening and follow-up procedures, and all specimens are destroyed thereafter. Washington State retains the DBS for 21 years (the DBS are considered state property), during which time they can be used for research so long as the state’s Department of Health Institutional Review Board (IRB) approves the research project. Michigan retains the DBS for 100 years during which time they may be used for medical research unless a parent or the grown child, older than 18 years, opts out.

Privacy Issues Related To Retention

Despite its public health advantages, there is, from a privacy perspective, increasing debate surrounding the retention and use of the DBS. As technology innovation rapidly evolves, so too could the potential research uses for retained DBS. Now, scientists can extract DNA from retained DBS, and improved genomic sequencing technology has the potential to make previously anonymous DBS identifiable. Parents worry that if their children are identified as suffering from an illness, they may be subject to discrimination.

It is also possible for state governments to use genome sequencing from retained DBS to create a database of identifiable DNA. Parents have also expressed concerns that lack of informed consent precludes such uses. In several cases, parents argue that, although they gave consent to the collection and retention of the DBS, they did not truly understand what they were consenting to and, therefore, the DBS were obtained illegally.

What follows is a review of various cases in three states, illustrating just how thorny these challenges will continue to be:

Texas

Prior to 2002, the DBS in Texas were only stored for a short period of time and then destroyed. Beginning in 2002, Texas began a program to store the DBS indefinitely. As there was no parental consent requirement to collect the DBS, the Texas Department of State Health Services (DSHS) determined that no consent was needed to retain the DBS or to conduct research using the retained DBS. However, in 2009, parents sued the DSHS when the state allowed a federal Armed Forces lab to use retained DBS to create a mitochondrial DNA database meant to help identify missing persons in the future.

As part of a settlement, Texas destroyed more than five million retained DBS that were collected prior to 2009. Texas law was also amended to allow parents to request destruction of retained DBS. Samples collected before May 27, 2009, have all been destroyed. Samples collected between May 27, 2009, and May 31, 2012, are stored indefinitely unless parents complete a form titled, “Directive to Destroy Newborn Screening Blood Spot Card Following Testing.” Retained DBS collected after June 1, 2012, are stored for only two years during which they can be used for research. Parents can opt into a longer storage period of 25 years by signing a “Parent Decision Form for Storage and Use of Newborn Screening Blood Spots” at the time of the newborn screening. The DBS stored for this period of time could be used for public health research. The state maintains that “no matter the parent’s choice, no information that can identify them or their child can be released outside DSHS without additional written consent.”

Michigan

Under Michigan’s BioTrust retention program, all the DBS collected prior to January 1987 have already been destroyed. Any DBS collected between January 1987 and September 1987 are scheduled to be destroyed per the Michigan Department of Health and Human Services (MDHHS) retention schedule; until then they will be stored in a de-identified manner and may be used in health research with additional informed consent granted by the MDHHS IRB. The DBS collected between October 1987 and April 30, 2010, are de-identified and retained for 100 years by default; they are used for research without any additional consent required. Parents of the child or children themselves may opt out of research or ask to have their DBS destroyed by filling out a form. For samples collected after April 30, 2010, the DBS is also stored for 100 years by default but requires an additional parental consent form to opt in for research. Parents sign this consent form after delivery but may opt out at another time, similar to the process described above.

In 2018, several parents filed suit against the MDHHS claiming the retention of the DBS occurred without their knowledge or consent, thus violating the US Constitution’s prohibition against unlawful searches and seizures. The Michigan plaintiffs claimed that a blood draw constitutes a “search” under the Fourth Amendment and the state was required to obtain informed consent from the parents of the newborn to take the DBS. Similar to the parents in the Texas suit, the parents in Michigan argue that it was impossible to properly give informed consent in the chaotic moments after giving birth, before the baby’s blood was taken, and so the DBS should not have been taken or retained by the state.

Now, almost four years later, Michigan has agreed to destroy more than three million DBS cards in response to the lawsuit.

The Michigan Department of Health and Human Services (DHHS) has also recently released new Guidelines for Research Use of Dried Blood Spots. The Guidelines state that the DBS can only be used by researchers following review and approval by the BioTrust Scientific Advisory Board and Michigan DHHS IRB, completion of a material transfer agreement, and, if applicable, completion of a Data Use Agreement. The guidelines state that, as a privacy safeguard, the specimens “may not be manipulated by the researcher to identify an individual, unless written informed consent is obtained specifically permitting that release or manipulation.” This indicates that the state will require parents to opt in to research when the DBS will be used, rather than immediately after birth. The guidelines specifically prohibit the DBS for “whole genome or whole exome sequencing,” which may also alleviate some parental concerns.

New Jersey

In New Jersey, parents must be properly informed about the newborn screening procedure and be provided with supplemental educational information. Parents may only opt out of newborn screening on religious grounds, and the refusal is recorded on the newborn’s medical record. New Jersey then retains the DBS for 23 years and requires parental consent or a court order for use outside of newborn screening.

In 2021, New Jersey State Police subpoenaed the state public health laboratory and obtained a retained DBS of a now-nine-year-old child with which they were able to generate a “genealogical map.” That map was then used by the police to meet the threshold of probable cause, leading to the arrest of a man in connection with a rape of a 10-year-old girl in 1996 and a five-year-old girl in 2003. The Office of the Public Defender and the New Jersey Monitor have filed an Open Public Records Act request to see how many subpoenas served on the state laboratory were denied by the state.

If the court holds that retained DBS can be obtained by police, genetically sequenced to identify suspected criminals, and then used as probable cause to make arrests, it may deepen the distrust of law enforcement practices by people of color. More parents of color may choose to have retained DBS destroyed or opt out of newborn screening entirely, forgoing the many benefits in favor of increased privacy.

A Delicate Balance

Large-scale public health screening and surveillance activities that the DBS support offer numerous benefits but can also pose certain privacy challenges. Lawmakers and public health officials must confront and balance legitimate privacy concerns as they continue the important work of newborn screening, DBS retention, and facilitating the use of retained DBS to further important research. As noted above, genomic sequencing or law enforcement’s use of the DBS as an investigational tool could allow subjects to be identified. This possibility raises serious constitutional and ethical considerations.

In light of recent disputes around DBS collection, retention, and use, lawmakers and public health officials should evaluate the range of privacy protective options including robust notice and affirmative consent. Allowing newborn screening by default, unless parents “opt out,” arguably facilitates greater collection of the DBS and achievement of key public health goals—such as high rates of screening, early disease detection and intervention, and further research. Yet, this approach is not as privacy protective. By contrast, a more privacy protective opt-in approach could be counterproductive from a public health perspective and lead to fewer parents choosing newborn screening; this, in turn, could lead to missed diagnoses and undermine legitimate future research.

States should work with health care providers to inform parents much earlier in the pregnancy about newborn screening, DBS retention, potential research uses, and data safeguards at a much earlier time in the pregnancy. Such an approach would arguably allow parents greater time and capacity to consider its implications before giving their consent. Indeed, research has shown that doing so in the prenatal rather than postnatal period may facilitate greater parental satisfaction.

Furthermore, in scenarios in which states retain DBS, destruction could occur by default after a specified period, potentially allaying concerns about indefinite retention and use of the DBS without parental permission.

Finally, if, during a permissible retention period, a researcher would like to conduct secondary research on retained DBS, states should consider whether additional informed consent ought to be obtained from parents (or individuals providing DBS samples if they reach the age of majority) for such specific research endeavors.

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