Five genomics trends set to reshape research and care in 2026

Each year brings greater progress for human genomics, with the field steadily moving from promising research into tangible clinical and policy impact. In 2025, genetic insight continued to reshape what is possible in medicine.

Gene therapies delivered major breakthroughs, including treatments that halve cholesterol levels in patients with inherited cardiovascular risk, advances for people living with thalassemia and highly targeted approaches for leukaemia that reduce the need for traditional chemotherapy.

2025 also saw the first sustained slowing of Huntington’s disease, marking a long-awaited milestone for a condition historically considered untreatable. Together, these developments show how genomic understanding is translating into precise, less burdensome care.

Alongside therapeutic progress, policy momentum is shifting towards prevention and earlier intervention. In the UK, ambitions were announced for genomic testing to become a routine part of newborn care, with proposals that all babies in England could receive DNA testing within the next decade.

Elsewhere in Europe, renewed investment in shared genomic infrastructure and data initiatives pointed to a longer-term commitment to personalised and preventative care. And in the US, federal newborn screening expanded to include additional rare conditions.

Underpinning this progress is the rapid evolution of genomic technologies. In particular, long-read sequencing is now faster and more affordable, giving many more global researchers access to deeper genomic insight.

This integrated and complete view of human biology sets 2026 up to usher in further breakthroughs, including in these five areas.

2025’s landmark success in slowing the progression of Huntington’s disease marked a turning point for a broader class of genetic conditions known as repeat expansion disorders. These conditions are caused by DNA sequences that repeat beyond a safe threshold, disrupting gene function and leading to severe neurological symptoms.

As a result, the impact of the Huntington’s milestone is expected to extend beyond this single disease. The success has renewed research and investment interest in other repeat expansion disorders, including those linked to amyotrophic lateral sclerosis and frontotemporal dementia.

Genomic complexity has long placed these disorders beyond the reach of effective treatment.

Huntington’s is one of the simpler repeat expansion disorders to decode, since others involve longer repeats too complex for common sequencing approaches. Increased adoption of technologies capable of resolving longer, repetitive DNA sequences in a single test will make progress in other repeat expansion disorders a reality.

More countries are expected to invest in population-specific genomics initiatives in the coming year, building on the momentum of recent pangenome projects.

Historically, individual genomes have been analysed using a common reference genome, known as GRCh38. However, no single reference can represent the full breadth of human genetic diversity, meaning clinically important variation can be missed.

Pangenomes overcome the diversity challenge because they consist of genomes from individuals with specific ancestries or from a particular geographic region. This approach means pangenomes capture both shared genes and population-specific variation, enabling accurate variant interpretation for historically underrepresented groups.

Several 2025 projects proved the value of decoding genetic diversity, including the South Korean and Arab pangenome initiatives. The Arab pangenome alone uncovered 8.94 million small and 235,000 structural variants absent from standard references.
As long-read sequencing becomes faster and more scalable, creating high-quality and inclusive genomic references is increasingly feasible at national level.

As population genomics projects launch, the challenge is not just generating data but making sense of it. Analysing a single human genome already involves tens of thousands of lines of code and population-scale studies could generate up to 15× more data than YouTube over the next decade.

Managing this complexity with traditional bioinformatics alone is neither efficient nor sustainable.

AI will increasingly act as the interface between researchers and genomic data, enabling scientists to ask complex biological questions in intuitive ways. Chat capabilities will give scientists new ways of analysing data and reveal trends that they otherwise may not have considered.

2025 already saw major AI players start partnering with life sciences organisations to enable natural language-driven exploration of genomics data, for example Anthropic and 10x genomics.

Carrier screening is becoming increasingly important in reproductive and population health, but its scope has historically been constrained by technical limitations.
Only a subset of disease-causing genes can be reliably assessed, leaving many inherited conditions beyond the reach of traditional screening.

Even with next-generation sequencing, clinically relevant genes such as SMN1 for spinal muscular atrophy and HBA1/2 for alpha thalassaemia remain difficult to analyse due to their complex, repetitive structures. To date, laboratories have relied on multiple specialised assays, increasing cost and turnaround time.

In 2026, carrier screening is expected to shift towards more consolidated testing. As sequencing technologies mature, single assays will increasingly capture both straightforward and technically challenging genes with greater accuracy, enabling broader and more scalable screening programmes.

5. The diagnostic odyssey continues to improve for rare disease patients
Rare disease treatment is still defined by long diagnostic odysseys, with patients waiting an average of four to five years for an answer.

Despite extensive testing, around 60% of patients never receive a definitive diagnosis. In 2025, evidence began to show a path beyond the current fragmented model of testing. Research led by Radboud University Medical Center demonstrated that long-read whole-genome sequencing could identify 93% of pathogenic variants in challenging rare disease cases, reducing the need for multiple follow-on tests.

In the next twelve months, more hospitals and research centres are likely to evaluate long-read sequencing earlier in the diagnostic pathway for rare disease patients.

By consolidating stacked assays into a single genome-wide test, rare disease diagnostics can deliver faster answers for families while improving efficiency for healthcare systems.

These five predictions point to a clear shift in what is expected of modern genomics. Researchers, clinicians and funders increasingly assume that genomics projects should generate data at scale, deliver a complete picture of genetic variation and provide results that are interpretable at speed.

These expectations are being met by rapid advances in sequencing and informatics that turn questions once out of reach into routine study designs.

To ensure this progress translates into real-world benefit, the genomics ecosystem must continue to invest in data quality, inclusion, cross-sector partnerships and technology so insights move efficiently from research into care.