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Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...

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Updated: Mar 28, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Newborn Sequencing: The Promise and Perils.

Lainie Friedman Ross¹, Kelly E Ormond^2,3

¹Department of Health Humanities and Bioethics; Department of Pediatrics; Department of Neurology; Department of Philosophy; and Paul M. Schyve, MD Center for Bioethics, University of Rochester, Rochester, New York, USA;

Annual Review of Genomics and Human Genetics

|March 27, 2026

Summary

This summary is machine-generated.

Newborn sequencing (NBSeq) offers potential for early diagnosis and health equity but also risks exacerbating disparities and causing harm. Careful consideration of its promise and perils is essential for responsible implementation.

Keywords:

ELSI equity informed consent newborn screening population screening recommended uniform screening panel

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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.