Supporting Family Adaptation to Presymptomatic and “Untreatable” Conditions in an Era of Expanded Newborn Screening

• Published in: Journal of pediatric psychology 2009-07, Vol.34 (6), p.648-661
• Main Authors: Bailey, Donald B., Armstrong, F. Daniel, Kemper, Alex R., Skinner, Debra, Warren, Steven F.
• Format: Article
• Language: English
• Subjects: Adaptation, Psychological; Cooperative Behavior; early identification; family support; Genetic Association Studies; Genetic Counseling - psychology; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - genetics; Genetic Diseases, Inborn - psychology; Humans; Infant, Newborn; Interdisciplinary Communication; Neonatal Screening - psychology; newborn screening; Parents - psychology; Patient Care Team; Patient-Centered Care; Prognosis; Referral and Consultation; Social Support
• ISSN: 0146-8693; 1465-735X
• DOI: 10.1093/jpepsy/jsn032

Objective As technology advances, newborn screening will be possible for conditions not screened today. With an expansion of screening, strategies will be needed to support family adaptation to unexpected and possibly uncertain genetic information provided shortly after birth. Method Although candidate conditions for expanded newborn screening will typically be associated with increased morbidity or mortality, for most there is no proven medical treatment that must be implemented quickly. Many will have clinical features that gradually emerge and for which the severity of impact is not predictable. Parents will seek guidance on information, support, and treatment possibilities. This article summarizes issues evoked by expanded newborn screening and suggests strategies for supporting families of identified children. Results We propose four components necessary to support family adaptation to pre-symptomatic and “untreatable” conditions in an era of expanded newborn screening: (1) accurate and understandable information; (2) formal and informal support; (3) active surveillance; and (4) general and targeted interventions. We argue that no condition is “untreatable” and that a well-designed program of prevention and support has the potential to maximize benefit and minimize harm. Conclusions Pediatric psychologists can play important roles in an era of expanded newborn screening by helping families understand genetic information, make informed decisions about genetic testing, and cope with the potential psychosocial consequences of genetic information.