Bringing About Improved Health Outcomes

The primary goal of the Newborn Screening Translational Research Network (NBSTRN) is to improve the health outcomes of newborns with genetic or congenital disorders. Research can help us learn more about newborn screening to continue to improve health outcomes for these children. Research can help:

• Improve existing newborn screening technology (for example, to decrease the number of infants who have false positive test results)
• Develop new technologies to conduct newborn screening
• Inform decisions regarding the addition of new conditions to the core newborn screening panel
• Develop new or improved treatments for disorders identified through newborn screening
• Improve methods for long-term follow-up of children with these conditions
• Improve health outcomes by other methods

Specific Research Purposes

These research activities related to newborn screening along with quality improvement activities designed to improve the newborn screening process should be distinguished from other types of purposes for which residual newborn screening blood samples could be used, for example, research unrelated to newborn screening, forensic uses, public health surveillance, and other purposes.

Innovative translational research is necessary to improve the newborn screening process.  This research must be conducted in an ethical manner that respects and protects the rights of children and their families.  The Institutional Review Board (IRB) process is the mechanism by which oversight of this type of translational research is provided.

Newborn Screening Research Activities

What kinds of activities may be conducted with residual newborn screening dried blood samples (DBS) or information collected as part of newborn screening?

Many different types of activities may be conducted with dried blood spots (DBS) or information collected as a part of routine newborn screening.  The information collected as part of routine newborn screening will vary from state to state but can include the baby’s name, address, and other demographic information.  In addition to screening newborns for heritable disease, activities that may be conducted with DBS and information collected as part of routine newborn screening may include:

• the operation of quality assurance programs,
• public health surveillance,
• the general practice of medicine (for example, collecting patient clinical history information),
• basic science research
• research designed to improve existing newborn screening technology (for example, to decrease the number of infants who have false positive test results),
• research to develop  new technologies to conduct newborn screening,
• research to inform decisions regarding the addition of new conditions to the core newborn screening panel,
• the development of new or improved treatments for disorders identified through newborn screening,
• improved methods for long-term follow-up of children with these conditions, and

DBS also could be used for purposes unrelated to newborn screening, such as for forensic purposes or other types of biomedical research not related to newborn screening.   

It is important to note that blood samples or information collected for one purpose also may be used for purposes other than that for which they were collected.  For example, blood samples are collected in order to screen infants as part of state newborn screening programs.  The residual blood samples that remain after newborn screening testing has been completed also may be used by the state newborn screening program to assure that the state laboratory equipment is calibrated properly.  This use of the sample would be considered a quality assurance type of activity rather than a research activity.  The same residual blood sample also could be used by researchers in the development of new technology to conduct newborn screening.  This use of the sample would be considered a research activity.

Similarly, information collected from patients and their families in the course of the normal operation of newborn screening programs also may be used for different purposes.  For example, clinical information that is part of the medical record also may be used to assess the success of the state’s long-term follow-up component of its newborn screening program.  Information about newborn screening test results also can be used to track the incidence and prevalence of conditions included in the newborn screening panel.

Regardless of whether an activity is ultimately considered research, surveillance, quality assurance, or the practice of medicine, the IRB is the mechanism used to: 1) determine whether an activity is considered human subjects research and therefore subject to federal regulations and 2) provide oversight of the research to protect infants and their families.  Several factors determine what level of IRB oversight is required.  These factors include:

• the type of information or sample,
• whether the information or sample is identifiable
• the proposed use of the information/sample, and
• the level of risk to the individual of the proposed use of the information/sample.