Newborn Sequencing: The Promise and Perils.

Area of Science:

• Genetics and Genomics
• Public Health
• Medical Technology

Background:

• Newborn screening evolved from single-disease testing to tandem mass spectrometry, enabling simultaneous screening but causing disparities due to uneven adoption.
• A uniform screening panel was developed through collaboration, aiming to standardize newborn screening.
• Newborn sequencing (NBSeq) has emerged as a new technology for identifying monogenic disorders.

Purpose of the Study:

• To review the potential benefits and risks associated with newborn sequencing (NBSeq).
• To examine how NBSeq challenges existing public health screening principles and the mandatory nature of screening.
• To discuss the implications of NBSeq for diagnostic odysseys, health equity, and potential harms.

Main Methods:

• Literature review of newborn screening advancements.
• Analysis of the capabilities and limitations of NBSeq compared to existing methods.
• Examination of ethical, clinical, and public health considerations of NBSeq.

Main Results:

• NBSeq can identify numerous monogenic disorders, potentially reducing diagnostic odysseys and improving health equity.
• NBSeq currently cannot identify all conditions detectable by tandem mass spectrometry.
• NBSeq carries risks of exacerbating disparities, overdiagnosis, oversurveillance, and overtreatment, leading to psychosocial and clinical harms.

Conclusions:

• NBSeq presents a dual potential: advancing newborn screening and health equity while also posing significant risks of harm and disparity.
• The expansion of screening principles with NBSeq necessitates careful evaluation of its mandatory nature.
• Further research and ethical deliberation are crucial for the responsible integration of NBSeq into public health.