Abstract:
BACKGROUND:Newborn screening programs have expanded over the years; currently, many programs screen for dozens of congenital conditions that, if not detected and treated early, could result in catastrophic health consequences, including death. Some programs, however, still require universal newborn screening for only a few conditions. Although all 51 US programs (all states and the District of Columbia) have statutory screening requirements and similarities exist in many parts of the different screening systems, the enabling statutes, rules, regulations, protocols, and financing strategies vary dramatically. Consequently, there is a significant lack of equity in newborn screening services across the country. METHODS:We investigated program variations existing in and around January 2005 and provide baseline information with which future program comparisons can be made. We used program surveys, electronic searches of legislation, and individual input (validation) from program decision-makers to create a reservoir of program information. RESULTS:Included is a compilation of pertinent newborn screening statutes, information from genetic privacy statutes that potentially affects newborn screening programs, and a review of state laws that affect specimen and information retention. In addition, program policies related to the use of residual newborn screening blood spots are reviewed, along with the developmental processes affecting program informational brochures, including the information contained and the strategies for brochure dissemination. CONCLUSIONS:Building on a progressive and successful history, newborn screening continues as an example of an essential population genetic screening program. As the intricacies of screening systems have increased in complexity, so have the policy issues that shape program successes and failures. The summary information in this article provides a basis for national and individual program evaluation. Indeed, some of the information reported here has already been useful for program refinements reported elsewhere in this supplement.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Therrell BL,Johnson A,Williams Ddoi
10.1542/peds.2005-2633Csubject
Has Abstractpub_date
2006-05-01 00:00:00pages
S212-52issue
5 Pt 2eissn
0031-4005issn
1098-4275pii
117/5/S1/S212journal_volume
117pub_type
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