Newborn screening with nanopore sequencing 

Congratulations to Arnfinnur Kallsberg and the Faroese Health Authority team on their presentation at London Calling 2026, Oxford Nanopore Technologies' flagship annual conference! 

Spoiler: they built a locally operated newborn screening workflow for the Faroese  population, using NimaGen's single-reaction NGS library prep, powered by Reverse Complement PCR chemistry, and a MinION device that fits in your hand. 

Newborn screening (NBS) has been a cornerstone of public health for decades. It started with a single biochemical test for phenylketonuria and has since expanded to cover a growing list of metabolic and genetic disorders. The impact is enormous: early detection saves lives and prevents irreversible harm. 

The tension that most people outside the field don't see is this: implementing molecular genetic screening in small or remote populations is genuinely hard. Infrastructure requirements, throughput demands, and cost structures were all designed for large, centralized labs. If your entire national population is small and geographically isolated, the standard playbook doesn't quite fit, which is exactly the situation in the Faroe Islands. 

The Faroese team didn't wait for a perfect, large-scale solution to arrive. They built one that works now, in their context, with their constraints. The workflow combines three components: 

• MinION Mk1D sequencer from Oxford Nanopore Technologies, a compact, portable device that enables on-site sequencing without a large laboratory footprint
• NimaGen Reverse Complement PCR chemistry for library preparation, chosen specifically for its low hands-on time and single-tube simplicity
• Dried blood spot (DBS) sampling, the standard collection method used in newborn screening programs 

The initial screening panel targets four inherited disorders that are clinically significant in the Faroese population: glycogen storage disease type IIIa (GSDIIIa), carnitine transporter deficiency (CTD), cystic fibrosis (CF), and holocarboxylase synthetase deficiency (HLCS). 

Panel design was informed directly by the genetically homogeneous nature of the Faroese population. That's not a workaround; it's smart science. A focused, population-informed assay means better variant detection and less noise to work through downstream. 

Preliminary results from the Faroese team demonstrate that using NimaGen's single-reaction library prep chemistry in combination with nanopore sequencing provides sufficient coverage and variant resolution for targeted newborn screening, while keeping the workflow operationally simple enough to run within a national public health setting. 

The team also shared honest, practical lessons from the field: laboratory setup challenges, assay balancing decisions, contamination control measures, and the work of integrating a new molecular workflow into an existing public health framework. That kind of transparency is exactly what the broader community needs to replicate and adapt these approaches. 

What makes this work genuinely exciting is its broader implications. The Faroe Islands has a population of roughly 55,000 people. If a targeted genetic newborn screening program can be established, validated, and run locally there, it demonstrates something important: decentralized molecular screening is not just a future aspiration. It's happening now. 

Arnfinnur and the team explicitly frame this as a practical model for expanding molecular newborn screening in small-population or resource-constrained settings. That framing resonates with us. At NimaGen, we have always believed that advanced sequencing technology should be accessible to the labs that need it, not just the largest ones. 

Seeing Reverse Complement PCR chemistry at the heart of a national public health program is exactly the kind of real-world validation that reinforces what we set out to build. 

Our Oxford Nanopore expert Brian van der Veer is here to help. Reach out today to explore how Reverse Complement PCR technology can benefit your lab.

• Email: info@nimagen.com
• Phone: +31 24 820 02 40

The Faroese panel was designed around the specific genetic profile of their population. NimaGen's NG-Assay-on-Request™ service makes that kind of precision possible for any lab. You define the targets; we design and deliver a custom Reverse Complement PCR kit, compatible with Illumina and ONT, with a free quote within two to three business days.