International Consortium on Newborn Sequencing (ICoNS)

Enthusiastic about becoming a member of the The International Consortium on Newborn Sequencing (ICoNS) . ICoNS is an alliance of genomic scientists medical professionals and stakeholders who share a vision of responsibly implementing newborn sequencing to predict treatable disease in babies and act before symptoms begin.?? Joining the ICoNS is opening new opportunities for international collaboration in precision medicine, promoting the exchange of ideas and encouraging an open forum for leaders in this space, establishing a common vision for newborn sequencing as a public health tool, and organizing efforts needed to advance the field. Through ongoing and future projects, the group will continue to disseminate valuable data on successful implementation approaches, key lessons learned, and the outcomes of genomic new born screening (gNBS) in practice. This collaboration aims to address common implementation challenges and contribute to the global advancement of gNBS testing. #precisionmedicine #genomics #prevention #newbornscreening #innovation

Ce fut un véritable honneur d’être invité par le Ministère de la santé et des services sociaux du Québec (MSSS) pour célébrer les 55 ans du Programme Québécois de Dépistage Néonatal Sanguin Urinaire (PQDNSU). En tant que conférencier et panéliste, j’ai eu le privilège de contribuer aux réflexions sur l’avenir du séquen?age du génome et de la génomique en première intention dans le dépistage néonatal sanguin, en explorant les défis techniques ainsi que les implications éthiques, légales et sociales, dans une optique de santé publique visionnaire. ?? Il est fascinant de rappeler que dès 1966, les Nations Unies affirmaient, à travers l’article 15 du Pacte international relatif aux droits économiques, sociaux et culturels, "le droit de chacun de bénéficier du progrès scientifique et de ses applications." ?? Malgré des avancées importantes, beaucoup reste à faire pour mettre fin à l’errance diagnostique, et les progrès scientifiques ouvrent des perspectives inédites pour y parvenir. ? Mes remerciements sincères vont à Wilhelm Dubuisson et Pamela Bou Malhab, ainsi qu'à mes estimés co-panélistes Yves Giguère, Bartha Knoppers et Anne-Marie Laberge, pour la richesse de nos échanges. ?? Screen4Care, #PERIGENOMED, International Consortium on Newborn Sequencing (ICoNS) #maladiesrares #passirare #PQDNSU #Depistage #Consentementapproprie #Santé #Innovation #Génomique #RareDiseases #NewbornGeneticScreening #PatientPreferenceStudies #Diagnosis #Genomics #PatientNeed #HealthCareEcoSystem #ClinicalDevelopement #PatientAdvocacy #PatientEngagement #Health #ScienceMatters It was a true honor to be invited by the Ministère de la Santé et des Services sociaux du Québec (MSSS) to celebrate the 55th anniversary of the Quebec Urinary Neonatal Screening Program (PQDNSU). As a speaker and panelist, I had the privilege of joining a conversation about the future of genome sequencing and genomics in newborn blood screening. We discussed the technical challenges, as well as the ethical, legal, and social implications, all with a focus on forward-thinking public health solutions. ?? It’s fascinating to think that, as early as 1966, the United Nations recognized, in Article 15 of the International Covenant on Economic, Social and Cultural Rights, “the right of everyone to benefit from scientific progress and its applications.” ?? While we’ve made significant strides, there’s still a long way to go to eliminate diagnostic odysseys, and the scientific progress we’re seeing now is opening up incredible new possibilities to make that happen. ? My sincere thanks go to Wilhem Dubuisson and Pamela Bou Malhab, as well as my esteemed co-panelists Yves Giguère, Bartha Knoppers, and Anne-Marie Laberge, for the richness of our exchanges. ??

Congratulations to our fellow International Consortium on Newborn Sequencing (ICoNS) member organizations leading the GUARDIAN study. These initial results found that genome sequencing identified 120 newborns with serious health conditions when only 10 were detected with standard newborn screening, reinforcing the viability and utility genomic sequencing can bring to newborn screening.? ? #WholeGenomeSequencing #Genomics #PrecisionMedicine?

This International Consortium on Newborn Sequencing (ICoNS) study of 4,000 newborns shows promising results with a 72% parental consent rate (societal acceptance), an 82% positive predictive value (low false positives), and a 3.7% screen-positive rate (close alignment to previous findings).

ANNOUNCEMENT: PMFG 2024 SUMMIT SCIENTIFIC TRACKS AND SPEAKERS Be part of the global scientific community in Qatar 3 DECEMBER 2024 (DAY 1) THEME: POPULATION GENETICS Global Advancements In Genomic Newborn Screening SPEAKER: Nicolas Encina, Executive Director, International Consortium on Newborn Sequencing (ICoNS), USA @NICOLAS ENCINA International Consortium on Newborn Sequencing (ICoNS) SUMMIT WEBSITE: https://lnkd.in/gaAvZNsB Registration: https://lnkd.in/dUBNM46n

Thank you to the organizers of the 3rd annual International Consortium on Newborn Sequencing (ICoNS) conference! Such inspirational work to advance newborn sequencing!!

From New York City to Washington D.C., Baylor Genetics' mission to improve lives has been at the forefront. Our goal is simple yet powerful: to provide patients and healthcare providers with actionable and timely answers. ? At #ICoNS24, we showcased research on how Rapid Whole Genome Sequencing for newborns paves the way for early interventions and more personalized care, identifying conditions that traditional screening might miss. At #NORDSummit, we highlighted the power of early genomic sequencing in diagnosing rare diseases like MNGIE, a complex condition affecting the digestive and nervous systems. This case emphasizes the critical role of genomics in shortening the diagnostic journey and ensuring patients receive the right care sooner. ? This is why we do what we do—to give hope to families and deliver the answers that can make all the difference in treatment and outcomes. Every discovery, every breakthrough, is rooted in our desire to change lives for the better. International Consortium on Newborn Sequencing (ICoNS) National Organization for Rare Disorders ? #PatientsFirst #ThinkBG

Another excellent meeting, it was great to listen to, and meet truly visionary healthcare professionals who truly care about and believe in newborn sequencing. Thank you International Consortium on Newborn Sequencing (ICoNS) for organizing this fantastic event. Also thanks to Dr. Abdul R Shaikh, Public Health Lead, AWS Healthcare for presenting the AWS approach to supporting the mission and ambition of healthcare organizations across the world. Looking forward to 2025, #AWS, #genomicsonaws, #healthcare, #genomics, #day1, #precisionmedicine, #innovation

Such a fun, and invigorating discussion. Thanks to all panelists, and to Stephen Kingsmore for the excellent moderation of the panel

Great time at International Consortium on Newborn Sequencing (ICoNS) in New York last week