Published online May 1, 2006
PEDIATRICS
Vol. 117
No. 5
May 2006, pp.
1869
(doi:10.1542/peds.2006-0158)
Research for Newborn Screening: Developing a National Framework
Penelope J. Pivalizza, MD, MPH, FAAP
Center for Developmental Pediatrics
Texas Children's Hospital
Baylor College of Medicine
Houston, TX 77030
To the Editor.
I respond with interest to Botkin's timely, well-presented, and pertinent discussion and call for additional sophisticated research and collaboration to address national newborn screening program issues.1
Having researched the complexity of galactosemia screening and its cost-effectiveness in my state,2 I add the following comments to the current debate:
- Galactosemia is a serious disorder with significant mortality/morbidity should its diagnosis be missed, with mortality understood to be preventable by newborn screening.
- Complicating research and the diagnostic approach are many constraints including impaired access to health care (including difficulties for rural residents), systematic diagnostic variables, and the clinical complexity of differential diagnosis of this rare condition, which frequently lacks pathognomic features. This challenge in clinical diagnosis has facilitated newborn screening application.
- Galactosemic eaths among unscreened infants may be erroneously underassessed, possibly ascribed to sepsis such as Escherichia coli, which complicates comparison to screened populations.
- Even with screening and good health care, most diagnoses of symptomatic infants are still made by a screening test.3
- Potential cost-savings of a newborn screen-generated diagnosis before 2 weeks of age requires comprehensive cost/benefit analysis. Considerable extended hospitalization, multispecialty evaluation, and investigation costs may be generated before mean clinical pathway diagnosis after 2 months.
- Potential constraints of proposed selected infant galactosemia screening4 have not been examined (eg, potential morbidity and mortality by delayed positive screening test results in a condition for which earliest possible test reporting is advocated to prevent death). In my recent thesis2 examining galactosemia newborn screening and its cost-effectiveness in Texas, the earliest infant death occurred at 9 days of age. The importance of earliest possible detection, diagnosis, and intervention is emphasized, with good-quality assurance for efficient reporting advisable.
- Constraints of comparing outcomes in screened to unscreened populations include variable compliance, health care and dietary access, and limited outcome research, frequently based on dated retrospective reports.
In view of these factors, I echo Botkin's call for additional research and collaboration needed to address these complex issues.
REFERENCES
- Botkin JR. Research for newborn screening: developing a national framework.
Pediatrics. 2005;116
:862
–871[Abstract/Free Full Text]
- Pivalizza PJ.
A Study of Galactosemia: Newborn Screening and Its Cost-Effectiveness in Texas [MPH thesis]. Houston, TX: University of Texas-Houston Health Science Center School of Public Health; 2001
- Schweitzer S. Newborn mass screening for galactosemia.
Eur J Pediatr. 1995:154(7 suppl 2)
:S37
–S39
- Shah V, Friedman S, Moore AM, Platt BA, Feigenbaum AS. Selective screening for neonatal galactosemia: an alternative approach.
Acta Paediatr. 2001;90
:948
–949[ISI][Medline]
PEDIATRICS (ISSN 1098-4275). ©2006 by the American Academy of Pediatrics
