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Published on: August 17, 2022
Ethical implications of next-generation sequencing and the future of newborn screening
Shelley White-Corey1, Jessica L Peck2, Rosa I Pérez3
1College of Nursing, Texas A&M University, College Station, Texas.
Insights
Newborn blood screening detects rare conditions, saving lives. However, congenital anomalies remain a leading cause of infant death, highlighting the need for expanded screening and ethical considerations.
Area of Science:
- Medical Genetics
- Public Health
- Neonatal Care
Background:
- Newborn blood screening has saved lives for 50 years by detecting disorders before symptoms.
- Congenital anomalies are the leading cause of infant mortality, despite screening advancements.
- Screening panels have expanded from one condition to 60, with significant state-level variation.
Purpose of the Study:
- To review the evolution and current state of newborn screening.
- To discuss the challenges and ethical implications of expanding newborn screening.
- To emphasize the role of nurse practitioners in supporting families through complex screening decisions.
Main Methods:
- Review of historical data and technological advancements in newborn screening.
- Analysis of current screening panels and implementation variations.
- Discussion of ethical, legal, and social implications (ELSI) of genomic analysis in screening.
Main Results:
- Over 5,000 infants are identified annually with rare conditions through screening.
- Congenital anomalies account for over 20% of infant deaths.
- Genomic technologies like next-generation sequencing are expanding screening capabilities.
Conclusions:
- Despite successes, congenital anomalies remain a major cause of infant mortality.
- Ethical debates surrounding screening for untreatable conditions persist.
- Nurse practitioners are crucial in guiding families through informed decision-making regarding newborn screening.
Abstract:
Over the last 50 years, routine newborn blood screening for congenital disorders has been hailed as a miracle of modern science, saving countless lives by providing a means to detect and treat life-threatening disorders before symptoms present. Despite progress made with more than 5,000 babies effectively identified with rare conditions each year, congenital anomalies collectively remain at the top of the list as the cause of death for babies under 1 year of age, accounting for more than 20% of all infant mortalities. Rapid technological advances have seen the original singular newborn screen for phenylketonuria expand to a core set of 34 conditions and an additional 26 secondary conditions on the Recommended Uniform Screening Panel, with wide state-to-state variation for implementation. As genomic analysis evolves to enable next-generation sequencing, debates continue over the ethical, legal, and social implications of identifying conditions for which there is no effective treatment. Nurse practitioners should be engaged and informed in providing evidence-based support to families engaging in ethical complex decision making surrounding newborn screening while effectively balancing risk-benefit analysis with individual beliefs and values.
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