Whole-genome sequencing in newborn screening programs

Sci Transl Med. 2014 Mar 26;6(229):229cm2. doi: 10.1126/scitranslmed.3008494.

Abstract

The availability of whole-genome sequencing (WGS) is likely to change the practice of population screening programs such as newborn screening (NBS). This Commentary raises key ethical, legal, and social issues surrounding WGS in NBS and suggests a need for deliberation regarding the policy challenges of introducing sequencing in such programs. Any change in the goals of NBS programs should be discussed carefully and should represent the best interests of the child.

MeSH terms

  • Genome, Human / genetics*
  • Health Policy
  • Humans
  • Infant, Newborn
  • Mutation / genetics
  • Neonatal Screening / methods*
  • Sequence Analysis, DNA / methods*