Newborn Screening Laboratory Bulletin

IV. Future Directions

Newborn Screening National Contingency Plan

When Hurricane Katrina hit New Orleans and the levees were breached, the state’s newborn screening laboratory was decimated, and the normal operations of newborn screening, diagnosis, and follow-up were interrupted for several weeks. One of the lessons learned from that experience is that a back-up system or contingency plan is essential to keep this critical service functioning without interruption.

The Newborn Screening Saves Lives Act, which was signed into law in 2008, requires the development of a national contingency plan for newborn screening for use by a state, region, or consortia of states in the event of a public health emergency. CDC is working with the Health Resources and Services Administration, state public health departments, and others to develop a plan that addresses—

  • the collection and transport of specimens;
  • the shipment of specimens to state newborn screening laboratories;
  • the processing of specimens;
  • the reporting of screening results to physicians and families;
  • the diagnostic confirmation of positive screening results;
  • ensuring the availability of treatment and management resources;
  • educating families about newborn screening; and
  • carrying out other activities determined appropriate by the Secretary of Health and Human Services.

The establishment and continued refinement of a national contingency plan will help ensure that all babies receive the benefits of newborn screening, even under emergency circumstances.

Environmental Uses of Dried Blood Spots

For at least three decades, scientists at CDC have been determining which environmental chemicals people have been exposed to and how much of those chemicals actually gets into their bodies. This technique is known as biomonitoring.

CDC is combining its biomonitoring expertise with its newborn screening expertise to examine the possibility of using newborn screening dried blood spots to measure exposure to environmental chemicals, such as pesticides and metals. The benefit of using dried blood spots is that researchers will be able to determine which environmental chemicals are actually in newborns. Such research will improve pediatric studies, for example, that currently depend on interviews and memory to try and reconstruct exposure history(9).

Although this is a promising area of study, a number of significant issues need to be addressed before any kind of widespread use can begin. For example, overcoming sample volume limitations, determining the priority chemicals to measure, and facing analytical/methodological challenges are all valid concerns that can be addressed through further research and collaboration.

CDC can use its laboratory and newborn screening expertise to collaborate with states and other research partners to develop laboratory methods that can take the microliter volume of whole blood available in dried blood spots and still produce precise, accurate measurements of selected environmental chemicals.