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Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory
Nicole Kelly1, Dalia Chehayeb Makarem1, Melissa P Wasserstein1
1Nicole Kelly, M.P.H., is the Research Program Manager for the Pilot Newborn Screening for Lysosomal Storage Disorders at the Albert Einstein College of Medicine. She is the Research Manager for the Division of Pediatric Genetic Medicine at the Children's Hospital at Montefiore. Dalia Chehayeb Makarem, M.P.H., is the Clinical Research Coordinator for the Pilot Newborn Screening for Lysosomal Storage Disorders at the Icahn School of Medicine at Mount Sinai. Melissa P. Wasserstein, M.D., is an Associate Professor of Pediatrics at the Albert Einstein College of Medicine and the Chief of Pediatric Genetic Medicine at The Children's Hospital at Montefiore in the Bronx, NY. She is a clinical biochemical geneticist, specializing in the care of individuals with rare inborn errors of metabolism.
Insights
Mandatory newborn screening for high-benefit, low-risk disorders is crucial. Early detection prevents severe disability and death, making it essential for infant health and public well-being.
Area of Science:
- Medical Genetics
- Public Health
- Pediatrics
Background:
- Newborn screening has expanded to cover more diseases, prompting debate on mandatory versus optional screening.
- Concerns exist regarding parental consent for an increasingly complex screening panel.
Purpose of the Study:
- To argue for the continuation of mandatory newborn screening for specific disorders.
- To emphasize the critical importance of early detection in preventing severe infant outcomes.
Main Methods:
- The study presents a strong ethical and clinical argument based on established medical principles.
- It analyzes the benefit-risk ratio of screening for specific treatable infant disorders.
Main Results:
- Early detection of disorders like phenylketonuria (PKU) and MCAD deficiency offers irrefutable health benefits.
- The risks associated with treatment for these conditions are minimal.
Conclusions:
- Newborn screening for high benefit-risk ratio disorders should remain mandatory.
- Parental refusal to screen poses unacceptable risks of severe, preventable disability or death in infants.
Abstract:
Newborn screening has evolved to include an increasingly complex spectrum of diseases, raising concerns that screening should be optional and require parental consent. Early detection of disorders like PKU and MCAD is essential to prevent serious disability and death in affected children. These are examples of high benefit-risk ratio disorders because of the irrefutable health benefits of early detection, coupled with the low risks of treatment. The dire consequences of not diagnosing an infant with a treatable disorder because of parental refusal to screen are wholly unacceptable. Thus, we believe that newborn screening for disorders with high benefit-risk ratios should continue to be mandatory.
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