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Published on: August 25, 2014
Newborn screening and the pediatric practitioner
Margretta R Seashore1, Carl J Seashore
1Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA. margretta.seashore@yale.edu
Insights
Newborn screening has advanced child health since 1964. Effective collaboration between public health, specialists, and primary care is crucial for timely diagnosis and care of infants with screened disorders.
Area of Science:
- Public Health
- Pediatrics
- Genetics
Background:
- Newborn screening for metabolic and other disorders began in 1964.
- Advances in understanding disorders and testing methods have improved child health.
- Expansion of screening technology and the number of identified disorders presents challenges.
Purpose of the Study:
- To highlight the evolving landscape of newborn screening.
- To emphasize the need for collaboration in managing screened disorders.
- To underscore the importance of timely and expert care for affected infants.
Main Methods:
- Review of historical advancements in newborn screening.
- Analysis of the impact of expanded screening on healthcare delivery.
- Identification of key stakeholders in the newborn screening process.
Main Results:
- Newborn screening has significantly improved pediatric health outcomes.
- Increased screening complexity necessitates enhanced collaboration among healthcare providers.
- Prompt results, expert confirmatory testing, and effective care plans are vital.
Conclusions:
- A collaborative model involving public health, tertiary specialists, and primary care clinicians is essential.
- This collaboration ensures timely diagnosis and effective management of infants identified through newborn screening.
- Realizing the full benefits of newborn screening requires a coordinated approach to testing and care.
Abstract:
Since the beginning of newborn screening for metabolic and other disorders in 1964, advances in the understanding of the disorders identified and development of new methods of testing newborn screening blood spots have contributed to improved health in children. Pediatricians and others involved in the health care of infants must be able to participate in the assessment and confirmatory testing of infants who have an abnormal test result and in the care of infants identified with a disorder. Expansion in the technology and number of disorders identified has complicated this process. As more and a greater variety of disorders are tested for and identified, a crucial collaborative role has emerged for the newborn screening programs and their public health professionals, the tertiary care specialists in the disorders and the primary care clinicians who comprise the medical home of the infants identified. This collaboration needs to provide prompt results of the newborn screening tests, expeditious and expert confirmatory testing and an effective care plan for the affected infant to realize the benefits of treatment for children with otherwise devastating disorders.
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