By Avery Avrakotos, education and policy manager

In March, the Newborn Screening Saves Live Reauthorization Act of 2014 went into effect. The act, which is an extension of the Newborn Screening Saves Lives Act of 2008, reauthorizes nearly $20 million in funding and expands state-based infant screening programs. It also contains a controversial amendment that requires informed consent for any federally funded research activities using newborn dried bloodspots.
Infant screening programs have been in place in the United States for more than 50 years. The programs, which are mandatory in 48 states, test newborns for more than 30 serious, but treatable, genetic disorders by taking a small sample of blood through a heel prick at birth. Collected samples are placed onto a small piece of filtered paper, known as a Guthrie card, and sent to a laboratory for testing. Results are then shared with the infant’s physician and parents.
In many states, the cards have historically been retained after the initial screening and used for quality assurance purposes, program evaluation activities, and/or biomedical research. However, a provision in the Newborn Screening Saves Lives Act of 2014 may change that. An amendment, which was added to the legislation at the last minute, amidst pressure from privacy advocates, states:

Research on newborn dried blood spots shall be considered research carried out on human subjects meeting the definition of section 46.102(f)(2) of title 45, Code of Federal Regulations, for purposes of Federally funded research conducted pursuant to the Public Health Service Act until such time as updates to the Federal Policy for the Protection of Human Subjects (the Common Rule) are promulgated pursuant to subsection (c). For purposes of this subsection, sections 46.116(c) and 46.116(d) of title 45, Code of Federal Regulations, shall not apply.

This language represents a significant shift in how research using newborn dried bloodspots is regulated. While some states prohibit research using residual newborn dried bloodspots, others states have allowed for the specimens to be separated from identifying information and used for research purposes. With the specimens de-identified, many institutional review boards (IRBs) determined that activities with the samples did not meet the definition of research involving human subjects as delineated in 45 CFR 46.102, and thus, were not subject to IRB oversight or federal provisions requiring informed consent.
The Newborn Screening Saves Lives Act of 2014 takes away that option, however. Going forward, IRBs will be required to treat federally funded research with residual newborn dried bloodspots as human subjects research regardless of whether the samples are de-identified. In addition, as Jennifer S. Geetter, JD, and Chelsea M. Rutherford, JD, explain in an article for McDermott Will & Emery, the legislation also “eliminates an IRB’s ability to alter or waive certain informed consent requirements” for research using newborn dried bloodspots and calls on the Department of Health and Human Services (HHS) to propose amendments to the Federal Policy for the Protection of Human Subjects within six months and to issue final regulations within two years.
The reaction to the legislation has been varied. Many in the research community believe that requiring informed consent for all federally funded research using newborn bloodspots is “prohibitive and impractical” and that the legislation will stifle socially beneficial research. The Secretary’s Advisory Committee on Human Research Protections (SACHRP), which provides guidance to the Secretary of HHS on matters related to human subjects protections, noted concern about the change. They explained: “Prospective informed consent for research use of such samples will present a significant challenge due to the wide range of healthcare facilities where births occur and the variable experience staff will have with obtaining consent to research procedures. This difficulty is potentially compounded in that blood spots currently are obtained for clinical purposes without consent, and almost all research use of the bloodspots will be unspecified and take place in the future.”
Debate about secondary uses of residual newborn dried bloodspots is not new. Some parents and advocacy groups have argued strongly against the practice, citing concerns about the lack of informed consent and the potential for samples to be used for discriminatory purposes. Conversely, researchers and public health officials have stated that research using newborn dried bloodspots is essential for advancing public health and that requiring consent may limit the feasibility of important research. As SACHRP explained, “This issue represents a conflict between closely held values – parental decision-making related to the use of samples obtained from their children versus the need to pursue research that contributes to the public good and may be conducted in the absence of informed consent.”
In addition to the immediate and direct impact on federally funded research that relies on the use of newborn bloodspots, Jennifer Couzin-Frankel noted in an article for Science that the Newborn Screening Saves Lives Act of 2014, when considered alongside other recent regulatory activities, also raises a “big question about whether the law is an early jolt of a larger seismic shift in how de-identified samples are handled.”
To assist researchers, institutions, and IRBs, and provide guidance to HHS, SACHRP released a set of recommendations for interpreting and applying the new regulatory requirements. The advisory body offers numerous suggestions, including that OHRP’s guidance on this topic needs to “reinforce that institutions should continue to assess proposed activities to determine whether or not they represent research,” and that “research activities involving newborn dried bloodspots that are not HHS-funded are not subject to the restrictions imposed by the law.” The complete list of SACHRP’s recommendations can be found on OHRP’s website, and should offer the research community some guidance as it awaits official interpretation of the new regulations from the agency itself.