Global Experts Announce the Formation of the International Consortium on Newborn Sequencing (ICoNS)

The Consortium aims to align stakeholders and establish guidelines based on empirical evidence for effective and equitable implementation of newborn sequencing.

The International Consortium on Newborn Sequencing (ICoNS) officially launched with the ratification of its 2023 consortium agreement. The purpose of ICoNS is to inform the clinical and public health research and implementation of genomic screening in newborns through the harmonization and aggregation of scientific evidence and resources. ICoNS members recognize the power of newborn sequencing as a public healthcare tool that can help predict treatable and actionable disease in babies and intervene before symptoms begin. “Robust and effective clinical implementation of newborn sequencing can only be achieved through common understanding and coordination across the critical stakeholders that are required to build the infrastructure necessary to support it at population levels” said Nicolas Encina, Executive Director of ICoNS. It is with this in mind that ICoNS seeks to include and represent diverse voices in the harmonization of objectives and development. ICoNS was founded as a global alliance of scientists, government officials, industry leaders, healthcare providers, ethicists and patient advocates who share a vested interest in the long-term design, coordination, and implementation of newborn sequencing in public health.

Members

The Consortium was founded by 8 newborn sequencing research projects around the world, consisting of BabySeq, Genomics England, GUARDIAN Study, BeginNGS, Early Check, Screen4Care, ScreenPlus, and BabyBeyond. Nicolas Encina (Ariadne Labs, Harvard University, Precision Population Health) is co-founder and the Executive Director of the Consortium, with Drs. Robert Green (BabySeq) and David Bick (Genomics England) acting as Co-Chairs. Leaders from each founding project form the Consortium’s Steering Committee, and an Advisory Committee is responsible for reviewing research proposals, establishing guidelines, standardizing on shared learnings, assessing progress, and suggesting future direction.

“Partnership is one of the core values of Screen4Care, as we believe that synergy is key in facilitating the shortening of the rare disease diagnosis process. At the heart of our project lies the integration of expertise, knowledge, and viewpoints, aimed at avoiding overlapping efforts and supporting data harmonisation. For these reasons, we are excited to join the new international ICoNS forum and help advance genetic newborn screening more impactfully. Together, we can gain valuable time and give it back to the rare disease community,” said Alessandra Ferlini, Project Scientific Coordinator and Nicolas Garnier, EFPIA Lead of Screen4Care.

The Consortium currently consists of 17 newborn sequencing projects in 7 countries across the world. For more information on the consortium go to www.iconseq.org or email contact [at] iconseq [dot] org.

Activities

ICoNS seeks to develop recommendations based on evidence and expert consensus for the implementation of newborn sequencing. A variety of topics will be addressed by the Consortium to facilitate future implementation, such as:

  • Protocol and Method design

  • Data sharing

  • Infrastructure

  • Outcomes

  • Common dictionary and terminology

Conference

The Consortium sponsors an annual conference by its namesake (ICoNS), open to the public, to promote the exchange of development and ideas in public discourse. The inaugural event in October 2022 was held at the Museum of Science in Boston, MA, USA. On October 5-6 2023 ICoNS’23 will be held at The Royal Institution in London, England, co-hosted with Genomics England. For more information on the conference go to www.icons23.org or email event [at] icons23 [dot] org.

About ICoNS

Founded in 2022, ICoNS is a global alliance of scientists, government officials, industry leaders, healthcare providers, and patient advocates who share a vested interest in the long-term design, coordination, and implementation of newborn sequencing in public health.

About Screen4Care

Launched in October 2021, the collaborative Innovative Medicines Initiative (IMI 2 JU) project Screen4Care aims to provide an accelerated diagnosis framework for rare diseases by advancing newborn genetic screening and developing dedicated digital tools. The project brings together academic partners led by the University of Ferrara, industrial partners led by Pfizer, and small and medium-sized enterprises. EURORDIS complements the consortium to ensure the needs and preferences of the rare disease community guide progression of the project.