Oct
7
to Oct 8

2026 Posters

  • Genetically-driven Immune Disease Genes in BEACONS Multi-State Genomic Newborn Screening. Jennifer Puck. 🔗 Source

  • Implementation Considerations for Pediatric Cancer Predisposition Focused Newborn Screening: Preliminary Qualitative Findings from the INSPECT Study. Stacey Pereira. 🔗 Source

  • CRINGENES: Advancing Newborn Screening in Spain through Genomic and Metabolomic integration. Hugo Rocha. 🔗 Source

  • Returning condition suspected results in genomic newborn screening: early experiences of parents and clinicians in the Generation Study. Emma Beecham. 🔗 Source

  • Multi-omic Newborn Screening: preliminary data on 25,000 newborns from the Puglia Genome Program. Paola Orsini. 🔗 Source

  • Result interpretation for autosomal recessive conditions identified by the GUARDIAN expanded genomic newborn screening study. Brenna Boyd. 🔗 Source

  • Toward Population-Scale Opt-Out Newborn Genetic Screening: Implementation Framework and Transition Readiness from Abu Dhabi. Sahar Almarzooqi. 🔗 Source

  • High expectations, deep concerns: South Korean parental perceptions of WGS-based newborn screening. Wonhoo Yoo. 🔗 Source

  • Results of assessment of infants with Long QT syndrome (LQTS) identified by the GUARDIAN (Genomic Uniform-screening Against Rare Disease in All Newborns) genomic newborn screening (gNBS) study. Brenna Boyd. 🔗 Source

  • Establishing a core outcome set for type 1 diabetes screening in infants and children. Whiwon Lee. 🔗 Source

  • Genetic Counseling Challenges For Pediatric Cancer Susceptibility Genetic Testing In The Newborn Screening: Spanish Consensus-Cangur Project. Estela Carrasco López. 🔗 Source

  • Selection of Genetic Conditions for the BEACONS-NBS study: The First U.S. Multi-State Genomic Newborn Screening Initiative. Harini Somanchi. 🔗 Source

  • Genetic counseling challenges following genomic newborn screening: Early experience from the PERIGENOMED project. Laurent PASQUIER. 🔗 Source

  • A Regionally Informed Master Gene List for Genomic Newborn Screening Identifies Actionable and Founder Variants in Middle Eastern Populations. Ammira Al-Shabeeb AKIL. 🔗 Source

  • Double-Stranded Politics: Partisan Trends in Genetics and Rare Disease Legislation from 2009-2025. Alexandra Crocker. 🔗 Source

  • Genomic newborn screening cannot replace conventional neonatal TSH-screening. Asbjorg Stray-Pedersen. 🔗 Source

  • Screening for Retinoblastoma: new findings from Genoma Puglia. Angela Gentile. 🔗 Source

  • Four deep mutational scans of AGXT reveal dependence of missense variant impacts on environmental and genetic context. Frederick Roth. 🔗 Source

  • Genomic newborn screening in Europe: Screen4care midterm results from 6500 screened neonates using the TREAT panel genetic tool targeting 245 rare disease genes. Emanuele Agolini. 🔗 Source

  • Public health laboratory professionals’ perspectives on parental consent for genomic newborn screening. Madison Hickingbotham. 🔗 Source

  • Family impacts following genomic newborn screening: Early evidence on out-of-pocket costs, quality of life and wellbeing for cost-effectiveness modelling. Martin Vu. 🔗 Source

  • Planning for scale: A framework for estimating the costs of national genomic newborn screening implementation in England. Martin Vu. 🔗 Source

  • Public Health and Genomic Newborn Screening: the “Genoma Puglia” Program. Paola Orsini. 🔗 Source

  • Curation of a Gene List for Canada’s first Pilot Study on Genomic Newborn Screening: INFANT - Identifying At-Risk Newborns From the Analysis of NGS Testing. Sophie Albert. 🔗 Source

  • Two-Punch DBS Extraction Supports Targeted NGS for Genomic Newborn Screening. Marika Sjöqvist. 🔗 Source

  • GENewBS: Italian genomic newborn screening study in 3000 neonates based on whole genome sequencing. Paola Orsini. 🔗 Source

  • Enhancing Early Identification of Hearing Loss Through Newborn Sequencing. Elizabeth Fieg. 🔗 Source

  • Rare Disease Genes: A web-based platform for databases of gene variants linked to rare diseases. Vanessa Rangel Miller. 🔗 Source

  • A Skill-Modular Agentic AI Platform for Continuous, Privacy-Preserving Reanalysis of Variants of Uncertain Significance in Rare Mendelian Disease. Xiaowu Gai. 🔗 Source

  • ICoNS Challenging Cases: common themes and a framework for analysis. Kate MacDuffie. 🔗 Source

  • NBS Refusal Policies: A Legal Mapping Content Analysis. Gianna D'Apolito. 🔗 Source

  • nbsatlas.org: An interactive global atlas of traditional and genomic newborn screening. Thomas Minten. 🔗 Source

  • Genomic data from Biomedical literature are a valuable source for new pathogenic variants: case study on secondary findings genes and implications for newborn screening programs. Joe Jacher. 🔗 Source

  • Structure of a simulation model to estimate the medical and economic impact of newborn genomic screening for malignant hyperthermia. Marcus Henry. 🔗 Source

  • Re-consent Frameworks for WGS-based newborn screening in South Korea. HyeonJeong Park. 🔗 Source

  • Scaling Newborn Screening Project - Where AI Can Helps. Laura Li. 🔗 Source

  • N-CARE: Informing the Future of Cancer Predisposition Screening at Birth Through Parent Perspectives and Information Needs. Natasha Bonhomme. 🔗 Source

  • Ready for WGS-based newborn screening: A multidisciplinary delphi study in South Korea. Wonhoo Yoo. 🔗 Source

  • Variants from Biomedical Literature Increase ClinVar Pathogenic Variant Representation by 43% Across Eight Genes. Joe Jacher. 🔗 Source

  • Multiplexed CF, SCID, and SMA screening using first-tier targeted gene sequencing (TGS) demonstrates superior accuracy compared to current IRT and TREC algorithms, with equivalent performance for SMA screening. Bennett Shum. 🔗 Source

  • Measuring health-related quality of life and wellbeing in families of children with genetic conditions: A scoping review. Ramesh Lamsal. 🔗 Source

  • Unique demands of computational variant interpretation for newborn genomic sequencing: findings from the Critical Assessment of Genome Interpretation (CAGI 7). Steven Brenner. 🔗 Source

  • BeginNGS: Advancing newborn genome sequencing trial with retrospective federated learning models. Rebecca Reimers. 🔗 Source

  • Sunshine Genetics: Implementing the Nation’s First State-Initiated Genomic Newborn Screening Program in Florida. Saanchi Shah. 🔗 Source

  • The Midwife’s Dichotomy: Reconciling Solidarity-Driven Public Health Objectives with Woman-Centred Care in Consent for Newborn Whole Genome Sequencing. Katie Handley. 🔗 Source

  • Long-Read HLA Sequencing Refines Type 1 Diabetes Risk Stratification in Qatari Newborns Within the NOOR-QATAR Newborn Genome Screening Program. AmmiraAl-Shabeeb AKIL. 🔗 Source

  • Mutational analysis of HBA1, HBA2 and HBB in hemoglobinopathy screened-positive neonates using digitalMLPA EZtec in the Philippines. Terence Diane Fabella. 🔗 Source

  • Whole‑Genome Sequencing of Newborns in Public NICUs of Parana, Brazil: Preliminary Insights from the Baby Capybara Project. Andreia Akemi Suzukawa. 🔗 Source

  • Industrialising National Genomic Newborn Screening: An Interpretation-Software Framework for Population-Scale Filtering, Automated Negative Triage, Knowledge Capitalisation and IVDR-Compliant Reporting. Jérome Audoux. 🔗 Source

  • Lost in Translation? NBS Conditions vs. Genetic Conditions in gNBS Condition Lists. Amy Gaviglio. 🔗 Source

  • GENEBORN: A National Multicentre Pilot of Genomic Newborn Screening in Spain. Pablo Lapunzina. 🔗 Source

  • Evolving Newborn Screening: a synthesis of biochemistry and genomics in the Norwegian NBS program. Alexander Rowe. 🔗 Source

  • Cord Blood: painless for newborns and viable for genomic newborn screening (gNBS). Jorune Balciuniene. 🔗 Source

  • Should G6PD deficiency be included in genomic newborn screening (gNBS)? An international survey of pilot programs. Frederic Huet. 🔗 Source

  • Considering social and political forces in gNBS implementation: Key informant perspectives. Elena Faugno. 🔗 Source

  • Early Detection, Early Access: Genomic Newborn Screening as a Strategy to Reduce Rural Disparities in Rare Disease Care. Mairead Bresnahan. 🔗 Source

  • ENTIRE – Genetic Newborn Screening Program. Janka Hindricks. 🔗 Source

  • Novel Genetic Findings in Congenital Heart Disease and Urogenital Anomalies in Korea. Mi-Hyun Park. 🔗 Source

  • FirstSteps, the gNBS Initiative in Greece: One year follow-up. Petros Tsipouras. 🔗 Source

  • The National Operational Framework for the Korean Genomic Newborn Screening (K-gNBS) Program. BEOMHEE LEE. 🔗 Source

  • Agentic AI and the transformation of genome analysis: lessons from the classroom. Steven Brenner. 🔗 Source

  • predNMD: prediction of nonsense-mediated mRNA decay for enhanced clinical variant pathogenicity classification. Steven Brenner. 🔗 Source

  • Equivalent and essentially perfect newborn screening for a set of treatable diseases in childhood by WGS first-tier or biochemical first-tier approaches. Michael Gelb. 🔗 Source

  • Genetic newborn screening for phenylketonuria. Asbjorg Stray-Pedersen. 🔗 Source

  • Accelerating DNA-based newborn screening for Menkes disease. Stephen G. Kaler. 🔗 Source

  • Baby Bee Project: First pilot study in Lombardy, Italy, of an AI-driven platform integrating biochemical and genomic data for next-generation newborn screening. Susanna Zucca. 🔗 Source

  • Genetic investigation in Undiagnosed Pediatric Patients with Rare Metabolic Diseases via Trio Whole-Genome Sequencing. Sung-MI Shim. 🔗 Source

  • Bursting the Bubble on Whole Genome Sequencing for Newborn Screening. Glenn Bennett. 🔗 Source

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