ESHG Statement on the utilisation of whole-genome sequencing in newborn screening

The progress in whole genome sequencing technology has been gaining ground leading to a significant decrease in both the cost and time needed to generate data on the entire sequence of the human genome and an increase in accessibility especially for newborn screening programs (NBS). An article published in European Journal of Human Genetics describes the impact this will have on the potential use of this technology in publicly funded newborn screening programmes. The article presents a statement from The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform reviewing the current scenario and issues “a set of recommendations to help inform and guide scientists and clinicians, as well as policy makers”. These recommendations include

  • The primary objective of genome sequencing in NBS should be prevention and or treatment
  • There should be robust evidence base to conduct these screenings
  • Cost-effectiveness studies to ensure proper implementation and monitoring are imperative
  • Open dialogue between stakeholders holds the key to advance engagement
  • Necessary information should be provided to parents at all stages
  • Particular attention should be paid to educating health care professionals on this topic
  • A properly thought out plan for the future of the stored data should is required
  • Unsolicited findings which lead to a preventable or treatable health problem should be communicated

Read the PubMed abstract