RESEARCH TRIANGLE PARK, NC – Voluntary newborn screening for disorders that are not part of regular state screening programs should be offered to families shortly after birth, suggests an editorial by Donald Bailey, Ph.D., and Lisa Gehtland, M.D., researchers at RTI International.
The commentary, published in the Journal of the American Medical Association, highlights the challenges of the rapidly changing landscape of newborn screening.
"There is now a critical need to determine the feasibility of a voluntary expansion of screening offered shortly after birth, providing a choice for families who want to know about other conditions," Bailey said.
The John Merck Fund and the North Carolina Translational and Clinical Sciences (NC TraCS) Institute at the University of North Carolina at Chapel Hill are co-funding the planning needed to launch a successful pilot program.
Newborn screening is designed to identify disorders for which there are effective treatments that must begin early, before symptoms become obvious. A national committee appointed by the U.S. Secretary of Health and Human Services provides guidance, called the Recommended Uniform Screening Panel, or RUSP, to state health departments for conditions to include in newborn screening.
Four primary requirements are used to add conditions to the RUSP: the condition represents a significant health problem, there is a cheap and accurate laboratory test, treatments exist with proven efficacy, and states are capable of screening and follow-up.
The RUSP currently contains 31 conditions. Many other conditions fall short of the criteria but are of great importance to families and health care providers.
Bailey suggests that an expanded newborn screening should initially be offered under a research protocol with opt-in informed consent, providing opportunities to determine prevalence, detect patterns of early symptom onset, and test presymptomatic treatments.
"This would provide an option for parents who want to know about these disorders, would help us understand the conditions better, and provide the first-ever opportunity to try treatments before symptoms appear, hopefully preventing or reducing the consequences of a disease," Bailey said.
The argument for a voluntary expansion is that early identification can result in substantive benefits for both children and families. Additionally, technological advances are lowering the cost of screening for rare disorders, further prompting advocates to ask for an alternative.
"This is not a new idea," Bailey said, "but no one has tried it on a statewide level because of the enormity of such an undertaking. We now need to determine the best way to offer such a program and to demonstrate its costs and benefits."
During the coming year, RTI researchers and a team of partners will lead an effort to plan and gather the initial data needed to design a statewide voluntary newborn screening program. The team will the take steps to plan and collect early data including forming an expert advisory group; identifying stakeholders, research partners and potential funders; developing a model for gaining informed consent from families who would like to participate, and determining criteria for the types of condition that should be included in an expanded panel.
"A voluntary alternative has the potential of balancing competing interests and could ensure a rational process for newborn screening policy," Bailey said.
The NC TraCS Institute is the integrated hub of the NIH Clinical and Translational Science Awards (CTSA) program at UNC Chapel Hill.