What's New in Newborn Screening?

Bradford L. Therrell; Colleen Buechner; Michele A. Lloyd-Puryear; Peter C. van Dyck; Marie Y. Mann


Pediatr Health. 2008;2(4):411-429. 

In This Article

Future Perspective

Many have speculated in recent years on the future perspectives of NBS.[87,88,89,90,91,92,93,94,95] Not only have these speculations embraced advancing technology and medical treatments, but also the changing perspectives of what constitutes benefit. The risks that might exist as a result of changes in NBS policy are equally important. As the universe of NBS expands from the combined impact of science, technology and policy, it must stay focused on improved health and long-term benefits to newborns and their families, and minimize risk. The relative rarity of most of the conditions identified through NBS will undoubtedly provide new opportunities for research and program improvement. The challenge will be in integrating and maximizing the knowledge and benefits of these studies. Government agencies must coordinate their activities to ensure that this occurs.

Continued advances in electronic data manipulation and communication also provide unique opportunities. Not only will telehealth increase the reach of specialty care so that broader clinical coverage will exist, but electronic health records will begin to provide faster and more comprehensive screening information at the point of patient care. Thus, NBS will become more feasible for conditions that require faster clinical interventions, and geographic areas currently without specialized medical services will have access to increased speciality care. The net result will probably be increased screening capabilities for congenital medical abnormalities that require continued redefinition and redesign of the NBS system to accommodate the expansion. Public health policy makers will continue to be challenged with their role in making NBS widely and equitably available. In addition to expansions and advances in developed NBS programs, developing programs will also increase so that a much larger percentage of the world's newborn population will have NBS access. This will include not only NDBS and NHS, but also other types of NBS.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.