Targeted nanopore sequencing for newborn screening in a small population | LC26

Abstract
Newborn screening (NBS) is a cornerstone of public health, originally established around biochemical detection of phenylketonuria and later expanded to include additional metabolic and genetic disorders. However, implementation of molecular genetic screening remains challenging in small or remote populations due to infrastructure, throughput, and cost constraints. In the Faroe Islands, we are establishing a targeted genetic NBS workflow using Oxford Nanopore technology to enable rapid, flexible, and locally operated sequencing within a national public health setting. We describe the implementation of a MinION Mk1D-based sequencing workflow combined with low hands-on NimaGen Reverse Complement PCR (RC-PCR) chemistry and dried blood spot (DBS) sampling. The initial panel targets four clinically significant inherited disorders with known relevance in the population of the Faroe Islands: glycogen storage disease type IIIa (GSDIIIa), carnitine transporter deficiency (CTD), cystic fibrosis (CF), and holocarboxylase synthetase deficiency (HLCS). Panel design is informed by the genetically homogeneous Faroese population, enabling focused assay development and efficient variant detection. The workflow is designed for robustness, short turnaround time, scalability, and streamlined data analysis. Preliminary results demonstrate that nanopore sequencing provides sufficient coverage and variant resolution for targeted NBS applications while maintaining operational simplicity. We highlight practical lessons learned during laboratory setup, assay balancing, contamination control, and integration into an existing public health framework. Finally, we discuss how targeted genetic screening can complement established biochemical newborn screening programs and support future expansion toward additional genetic targets. This work demonstrates how nanopore sequencing can support decentralized genetic screening programs and provides a practical model for expanding molecular NBS in small-population or resource-constrained settings.

Biography
Arnfinnur Kallsberg is a medical and molecular biologist specializing in molecular diagnostics, genomics, and public health applications. With experience spanning academic research and laboratory implementation, his work focuses on translating advanced sequencing technologies into practical clinical and population-level use. He has contributed to peer-reviewed research in infectious diseases and is actively involved in establishing local sequencing and biobanking capacity. His interests include precision medicine, pharmacogenomics, and strengthening public health preparedness through modern molecular tools.