What is newborn genomic sequencing?

Newborn genomic sequencing is an approach currently under study to collect and analyze large amounts of DNA sequence data in the newborn period. Genomic sequencing, a technology used to determine the order of DNA building blocks (nucleotides) in an individual's genetic code, is already available to test for genetic disorders in children and adults. Researchers have proposed using this technology to screen all newborns for health conditions they may have or be at risk of developing in childhood.

Newborn genomic sequencing would not replace standard newborn screening, which tests for a recommended 34 health conditions (although the exact number varies by state). Like current newborn screening, newborn genomic sequencing would allow doctors to identify health conditions very early in life. This technique would expand significantly the number and scope of health conditions that could be diagnosed soon after birth, potentially allowing doctors to start treatment and other follow-up as soon as possible.

As interest in newborn genomic sequencing grows, researchers and ethicists have identified possible ethical, social, and legal issues that need to be considered before the technology is widely adopted. These include the following considerations:

  • Some genetic changes will have implications for the health of not only the infant, but of his or her parents and other family members.

  • The interpretation of genomic data is constantly evolving, and right now it is unclear whether some changes in the genome are relevant to a person's health or not.

  • While some genetic changes have immediate significance for an infant's health, other changes only influence the risk of developing health problems later in life. Infants are unable to provide informed consent, which is generally required when testing for adult-onset diseases.

  • Newborn genomic screening raises issues of privacy and potential genetic discrimination if genomic data becomes part of a baby's medical record.

Newborn genomic sequencing may also have other risks and limitations that have not yet been recognized. All of these issues are under study as newborn genomic sequencing becomes increasingly feasible on a large scale. The NIH has sponsored several research studies to explore potential benefits, limitations, and ethical concerns in their Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program. The NSIGHT studies are funded through August 2018.

Scientific journal articles for further reading

Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb;139(2). pii: e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17. PubMed: 28096516.

Berg JS, Powell CM. Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening. Cold Spring Harb Perspect Med. 2015 Oct 5;5(12). pii: a023150. doi: 10.1101/cshperspect.a023150. Review. PubMed: 26438605. Free full-text article from PubMed Central: PMC4665041.

Kingsmore SF. Newborn testing and screening by whole-genome sequencing. Genet Med. 2016 Mar;18(3):214-6. doi: 10.1038/gim.2015.172. Epub 2015 Dec 17. PubMed: 26681311.

Tarini BA, Goldenberg AJ. Ethical issues with newborn screening in the genomics era. Annu Rev Genomics Hum Genet. 2012;13:381-93. doi: 10.1146/annurev-genom-090711-163741. Epub 2012 May 1. Review. PubMed: 22559326. Free full-text article from PubMed Central: PMC3625041.