Newborn screening and the era of medical genomics

Ludmila Francescatto, Elias Nicholas Katsanis*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

13 Scopus citations


Across the span of the last 75+ years, technological and conceptual advances in genetics have found rapid implementation at the beginning of human life. From karyotype testing, to molecular cytogenetics, to gene panel testing, and now to whole exome and whole genome sequencing, each iterative expansion of our capability to acquire genetic data on the next generation has been implemented quickly in the clinical setting. In tandem, our continuously expanding ability to acquire large volumes of genetic data has generated its own challenges in terms of interpretation, clinical utility of the information, and concerns over privacy and discrimination; for the first time, we are faced with the possibility of having complete access to our genetic data from birth, if not shortly after conception. Here, we discuss the evolution of the field toward this new reality and we consider the potentially far-reaching consequences and, at present, an unclear path toward developing best practices for implementation.

Original languageEnglish (US)
Pages (from-to)617-622
Number of pages6
JournalSeminars in Perinatology
Issue number8
StatePublished - Dec 2015


  • Genetic testing
  • In vivo model organisms
  • Newborn screening
  • Next-generation sequencing
  • Rare genetic disorders
  • Whole exome/genome sequencing

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

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