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Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward.

Vasiliki Rahimzadeh¹, Jan M Friedman², Guido de Wert³

¹Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA, United States.

Frontiers in Genetics

|July 21, 2022

Summary

Newborn screening (NBS) can be expanded to include more genetic diseases using exome or genome sequencing (ES/GS). However, rigorous evidence on clinical utility, cost, and accessibility is needed before widespread implementation.

Keywords:

access exome sequencing genome sequecing newborn screening population health genomics public health ethics

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Area of Science:

Genetics
Public Health
Genomic Medicine

Background:

Population-based newborn screening (NBS) is a highly effective public health strategy for early detection of genetic disorders.
Advancements in exome/genome sequencing (ES/GS) technologies and decreased costs enable the potential expansion of NBS to include a wider range of rare genetic diseases.

Purpose of the Study:

To evaluate the feasibility and recommendations for expanding newborn screening programs using exome or genome sequencing.
To assess the scientific advances, limitations, and evidence requirements for integrating ES/GS into NBS.

Main Methods:

Review of recommendations from European and North American genetic societies.
Analysis of scientific literature on exome/genome sequencing in the context of newborn screening.
Application of the principle of proportionality and human right to benefit from science.

Main Results:

While ES/GS offers potential for expanded NBS, significant evidence is still required regarding clinical utility, variant interpretation, cost-effectiveness, and accessibility of follow-up care.
Confirmatory or second-tier testing using ES/GS may be suitable in specific circumstances as an adjunct to current NBS.

Conclusions:

Wider implementation of ES/GS in NBS necessitates robust evidence demonstrating clear benefits outweighing risks.
Further research and pilot studies are crucial to address programmatic barriers and facilitators for integrating ES/GS into newborn screening programs.