National Genomics Programmes in Europe: Lessons for Moldova

Over the past fifteen years, several European countries have turned genomics from a research activity into national infrastructure. They did not all do the same thing. The United Kingdom sequenced patients to diagnose rare disease and cancer. Estonia and Finland genotyped large shares of their populations and linked the results to national health records. Denmark built a national centre to bring whole-genome sequencing into routine care. Moldova's National Healthcare Digitalization Program plans to screen about 1% of the population, roughly 24,000 genomes. Each of the four models offers lessons for how to design that screening.

United Kingdom: the 100,000 Genomes Project

The 100,000 Genomes Project was announced by the UK government in late 2012 and run by Genomics England. It sequenced 100,000 whole genomes from NHS patients, more than 85,000 participants with rare diseases or cancer and, in rare disease cases, often their relatives. The 100,000th genome was sequenced in December 2018.

The project was designed around clinical care from the start. A pilot study published in the New England Journal of Medicine in 2021 covered 4,660 participants from 2,183 families with 161 rare disorders. It made a genetic diagnosis in 25% of probands. Yields were much higher for disorders likely to have a single-gene cause (35%) than for those likely to have a complex cause (11%). Of the diagnoses made, 25% had immediate consequences for clinical decisions for patients or their relatives. Some 14% of diagnoses needed a combination of automated and research analysis, often to find variants that exome sequencing would miss.

Results from the project now feed into the NHS Genomic Medicine Service, which offers genomic testing as part of routine care. Researchers access consented data only through approved channels.

Estonia: a population biobank linked to national records

The Estonian Biobank, run by the Institute of Genomics at the University of Tartu, follows a different model. Volunteers from the general adult population joined under broad consent, governed by Estonia's Human Genes Research Act. The biobank now has more than 210,000 participants, about 20% of Estonia's adult population. All of them have been genotyped on a microarray of more than 700,000 markers, and several thousand have whole-genome sequences.

The biobank's value comes from linkage. Participant data are regularly updated from Estonia's national electronic health databases and registries, building on the national e-health system. This lets researchers study disease, prescriptions and outcomes over many years and recall participants for follow-up.

Estonia has also gone further than most in returning results to participants. Pilot projects in breast cancer and cardiovascular disease gave genetic feedback to more than 2,000 participants. In June 2024 the biobank launched the MyGenome portal (MinuGeenivaramu). Participants log in with their ID card, Mobile-ID or Smart-ID to see polygenic risk for type 2 diabetes and coronary artery disease, pharmacogenetic reports and ancestry information.

Finland: FinnGen and the power of a population isolate

FinnGen, led by the University of Helsinki together with all Finnish public biobanks and with industry partners among its funders, set out to combine genomic data from 500,000 Finns with national health register data. The final dataset was released internally in September 2023 and publicly in November 2024. It covers 500,348 individuals, about 10% of Finland's population, linked to lifelong register data including diagnoses, prescriptions and causes of death.

Finland's population history concentrates some disease-causing variants at higher frequency than elsewhere in Europe, which makes them easier to study. A 2023 analysis in Nature of 224,737 FinnGen participants reported 2,733 genome-wide significant associations across 1,932 disease endpoints. FinnGen also recruited heavily through hospital biobanks, so the cohort is older and richer in disease than a general-population sample. The summary results are publicly available to researchers worldwide.

Denmark: a national genome centre inside the health system

Denmark adopted a national strategy for personalised medicine in 2017, updated it in 2021, and established the Danish National Genome Center in 2019. The centre provides a common national infrastructure: a whole-genome sequencing centre, a high-performance computing centre and a national genome database for clinicians and researchers.

In December 2018 the Novo Nordisk Foundation committed DKK 990 million over four and a half years to build the infrastructure, with the expectation that about 60,000 people would undergo whole-genome sequencing in the first five years. Children and young people with rare diseases were among the first patient groups selected. Unlike a research biobank, the Danish model is clinical: patients are sequenced because their care needs it, and the data stays inside a national, publicly governed infrastructure.

What the four models have in common

Programme	Primary goal	Main technology	Link to care
Genomics England	Diagnosis in rare disease and cancer	Whole-genome sequencing	Through NHS clinical pathways
Estonian Biobank	Population research and personalised prevention	Genotyping arrays, some sequencing	National e-health records; results portal
FinnGen	Genetic discovery linked to registers, with industry partners	Genotyping	National health registers (research)
Danish National Genome Center	Clinical sequencing in routine care	Whole-genome sequencing	Directly within the public health system

Three patterns stand out. First, each programme chose a clear primary purpose, and that purpose determined who was sampled and which technology was used. Second, value came from linking genomes to health records, whether NHS data, Estonia's e-health system or Nordic registers. Third, every programme invested in governance: specific legislation or consent models, controlled data access and nationally hosted infrastructure.

Lessons for a 24,000-genome screening in Moldova

Moldova's programme, covering about 2.36 million people, is closer in scale to Estonia than to the UK. Its stated aim of screening and pharmacogenomics also sits between the population model and the clinical model. Several lessons follow:

1. Define the clinical use first. Screening for actionable conditions, pharmacogenomic profiling and research discovery need different sampling strategies. A mixed design is possible, but each component needs its own protocol.
2. Choose technology to match purpose. Estonian researchers found that genotyping arrays perform similarly to genome sequencing for pharmacogenetic predictions at much lower cost, and arrays underpin the large population cohorts in Estonia and Finland. Whole-genome sequencing, as in the UK and Denmark, is most valuable for diagnosing patients with suspected rare disease.
3. Build the link to the EHR. With EHR coverage planned to rise from under 10% to 80% by 2030, genomic results should be stored in a structured, coded form that the national record and decision support can use.
4. Plan the return of results. Estonia's step-by-step approach, from pilot feedback with genetic counselling to a secure portal with dynamic consent, is a realistic template. Counselling capacity has to be planned alongside sequencing capacity.
5. Create a Moldovan reference. Variant frequencies differ between populations. A national dataset improves the interpretation of every later test, as FinnGen has shown for Finland.
6. Keep the data sovereign. Denmark's national computing centre is a reminder that genomic analysis is computationally heavy. Moldova's requirement that medical data stay in the country means alignment, variant calling and analysis should run on dedicated, enterprise-grade computing capacity hosted in Moldova.

Related reading and solutions

• Genomics: population screening and pharmacogenomics
• Pharmacogenomics in clinical practice
• Pharmacology and treatment plans
• Sovereign, on-premise AI infrastructure
• Health data sovereignty: GDPR, EHDS and the EU AI Act

Designing a genomic screening or pharmacogenomics pathway? Contact Import Medical to discuss sequencing workflows, data integration and in-country analysis.

national genomics programme Genomics England Estonian Biobank FinnGen Moldova

Sources

1. The 100,000 Genomes Project — Genomics England
2. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report — New England Journal of Medicine
3. Estonian Biobank — Institute of Genomics, University of Tartu
4. Results based on the full FinnGen cohort of 500,000 participants released — FinnGen
5. Novo Nordisk Foundation supports new National Genome Centre — Novo Nordisk Foundation
6. At least 60,000 Danish patients are offered a genetic test — Aarhus University, Department of Biomedicine