How are advances in genomics reshaping drug development?
Megan Thomas provides overview of the global market for genomics, covering its rapid reshaping of drug discovery and development to offer faster, more precise, and cost-effective pathways to new therapies while driving global collaboration and innovation.
Past to present
As far back as 2000, academic experts were writing in journals such as Oxford Academic’s QJM on the impact of genomics on drug discovery and clinical medicine. The authors of Impact of genomics on drug discovery and clinical medicine wrote: “Genomics, particularly high‐throughput sequencing and characterisation of expressed human genes, has created new opportunities for drug discovery.”
This was written amidst the excitement of the Human Genome Project, which started in 1990 and was completed in 2003, and its ability to find disease-associated biomarkers. At the time, this new technology was a significant milestone and yet, since then, the industry has come leaps and bounds to the current state of genomic advances.
Lyndsey Fletcher wrote about this timeline to the present in Front Line Genomics. She highlights events such as the discovery that gain- and loss-of-function mutations in the PCSK9 gene are linked to altered levels of low-density lipoprotein cholesterol, the first link being discovered in 2003 and the second in 2005. This led to the first drug for this indication being approved in 2015, 12 years after the first genetic evidence was published. Fletcher notes that in 2019, an article suggested that a drug is two times more likely to be approved with genetic evidence. Building on that, a 2022 study claimed that two thirds of approved drugs from 2021 were backed to some degree by genetic evidence backing them.
This leads us roughly to the present.
Market insights
So, what does the current genomics market look like? A Precedence Research report forecasting the period 2024-2034 valued the global genomics market at $37.94 billion in 2024 and projects that it will reach $175.18 billion by 2034, growing at a CAGR of 16.53% from 2025 to 2034. This is attributable to factors such as the growing demand for gene therapy, personalised medicine, drug discovery, increasing cancer incidence, and a significant increase in demand for consumer genomics.
By region, a Grand View Research report showed that North America accounted for the largest market share in 2023 with 42.65%. Precedence Research quoted 42.65% as its market share statistic for 2024.
Asia Pacific is expected to expand at a solid CAGR of 18.11% during Precedence Research’s forecast period, which Grand View Research estimated to be the fastest-growing segment during its own forecast.
Key players
The active, expanding nature of this market is bolstered by the key pharmaceutical and biotechnology players making both business and scientific moves in the field. The below table of global pharmaceutical giants provides genomic updates in 2025 from these key industry players:
| Player | Update |
| Novo Nordisk | In January 2025, the Danish multinational pharma company Novo Nordisk partnered with Variant Bio, a genomics-driven drug discovery company, to discover novel targets for the treatment of metabolic disease. The partnership hopes to enable the identification and validation of multiple novel targets with sufficient human genetic evidence to initiate human-centric drug discovery programmes. |
| AstraZeneca | In March 2025, the new Functional Genomics Screening Laboratory (FGSL), a part of the UK Human Functional Genomics Initiative, was launched at the Milner Therapeutics Institute in Cambridge by FGSL partners: the Medical Research Council (MRC), AstraZeneca, and the University of Cambridge. The robotics and other equipment present in the new laboratory are state-of-the-art for arrayed CRISPR screening, enabling screens to be offered from 10s to 100s of genes through to whole genome, contributing to the UK’s ambition of having the most advanced genomic healthcare system in the world. |
| Illumina | In March 2025, US biotechnology company Illumina and Nashville Biosciences, a clinical and genomic data company and wholly owned subsidiary of Vanderbilt University Medical Center (VUMC), announced that 250,000 whole genomes had been sequenced for the Alliance for Genomic Discovery (AGD) initiative. Insights from the AGD database are being leveraged to accelerate drug target discovery, therapeutic research and clinical development. |
| GSK | In April 2025, British pharma company GSK collaborated with the Department of Health in Abu Dhabi (DoH) and the Abu Dhabi Investment Office (ADIO) to establish a Multi-Omics Research Institute in Abu Dhabi. This collaboration aims to accelerate oncology-focused genomic science and precision medicine, enhancing diversification and global representation in genomic research to improve cancer patient outcomes. |
| Roche | In May 2025, Swiss healthcare company Roche entered a strategic collaboration with Broad Clinical Labs to develop and pilot groundbreaking applications using Roche’s recently unveiled next-generation sequencing (NGS) Sequencing By Expansion (SBX) technology. The first project will see Broad Clinical Labs using the SBX technology to advance research into trio-based whole genome sequencing of critically ill newborns and their biological parents. |
Academic updates: Drugs and therapies
While the capital and interest of global pharmaceutical companies is instrumental to the rapid expansion of the global genomics-driven pipeline, so is the R&D taking place in the lab. Genomics spans a wide range of disease areas, from oncology to rare genetic disorders. This is regularly demonstrated in academia.
In March 2025, a study in Nature Communications unveiled a powerful new method for analysing some of the most complex regions of the human genome. Led by researchers from PacBio, GeneDx, and a global consortium of genomics experts, the study utilises Paraphase, an informatics tool that, when paired with HiFi long-read sequencing, allows for high-precision variant detection and copy number analysis in 316 previously inaccessible segmental duplication regions, including nine challenging medically relevant genes.
“Long-read genome sequencing offers the ability to detect variants that are difficult to identify using other testing methods, particularly in regions with highly similar sequence” – Dr Paul Kruszka, GeneDx
In August 2025, Dr Raphaël Ceccaldi, research team leader at Institut Curie, received the highest grant from the EQT Foundation’s Breakthrough Science: Women’s Health Grant programme. He and his team have identified a key enzyme involved in the DNA repair process, which unlocks the potential of new therapeutic strategies targeting breast and ovarian cancers, two particularly aggressive forms that are often resistant to conventional treatments.
“Understanding the mechanisms of life at the molecular level, without necessarily aiming for immediate medical application, can lead to tangible therapeutic breakthroughs.” – Dr Raphaël Ceccaldi, Institut Curie
In August 2025, three research projects led by University of New South Wales (UNSW) experts in genomics medicine received $4.92 million in funding from the Medical Research Future Fund (MRFF). The grants were announced under the MRFF’s Genomics Health Futures Mission, which aims to support better testing, diagnosis and treatment of cancers and other rare diseases through genomics research.
“We are committed to the creation of a new Precision Medicine Mission as part of our university strategy, Progress for All. These three projects will help put Australia at the forefront of genomic research and ultimately translate to enabling healthier lives for people with life-threatening or currently untreatable diseases.” – Professor Cheryl Jones, Dean of UNSW Medicine & Health
Geographic epicentres
It is valuable to take a look at where in the world the pharmaceutical interest, organisational investment and academic research in genomics, especially when many national organisations express their desire to put their country’s stamp on the global market. The map below highlights current innovation hubs, while the New Frontiers piece that features later in this report looks at the promise for the future when it comes to geographical relevance.
United Kingdom
The United Kingdom is fast establishing itself as a Genomics Superpower, which has been achieved through a strategic combination of government investment, top tier research institutions, and integrated healthcare infrastructure. An example of this in action is Genomics England’s 100,000 Genomes Project, whereby 100,000 genomes from around 85,000 National Health Service (NHS) patients affected by rare disease or cancer were sequenced by December 2018 – although research and analysis is still going. According to Genomics England, 18.5% of the data from the project turned into actionable findings.
A recent UK initiative in the field of genomics is Our Future Health, which aims to be the UK’s largest ever health research programme. By collecting genomic health data, Our Future Health helps researchers to understand the burden of disease and develop new ways of early detection, as well as outright prevention.
As mentioned previously, the FGSL, a joint venture between the Milner Therapeutics Institute at the University of Cambridge, the Medical Research Council (MRC) and AstraZeneca, is further evidence of this strong collaborative effort in the UK between the NHS, academic centres and industry. As part of the Human Functional Genomics Initiative, the FGSL will form collaborations to explore how genes impact on complex phenotypes in development and disease. This laboratory aligns with the UK’s mission to combine academia and business to accelerate the development of therapies.
North America
In a Research And Markets report, North America is described as being at the forefront of a healthcare revolution – as is reflected in the market shares outlined previously. The United States is particularly widely regarded in this sector, underpinned by federal funding, a thriving biotech and pharmaceutical ecosystem, and strong academic–industry partnerships. The Human Genome Project and the National Institute of Health’s All of Us Research Program are prime examples of this.
The Human Genome Project is significant because of the impact it has had on everything that is happening in the present genomics market. Launched in October 1990 and completed in April 2003, this was a landmark project in its accomplishment of generating the first sequence of the human genome, which has since provided fundamental information on the human blueprint.
On the other hand, All of Us Research Program was founded to accelerate health research and medical breakthroughs, enabling individualised prevention, treatment, and care. By the end of 2024, All of Us had delivered:
- Research DNA results to over 220,000 participants for genetic ancestry and traits
- Health-related research DNA results to more than 128,000 participants who wanted them including:
- Nearly 4,000 participants received information that they had a treatable or preventable hereditary condition
- Over 108,000 participants learned about how their bodies process certain medications, like clopidogrel (Plavix)
Canada is also a part of why the North American genomics market is considered so highly. Genome Canada, spearheaded by Innovation, Science and Economic Development Canada (ISED), was launched in 2000 with a mandate to strengthen the country’s leadership in genomics by focusing on three core priorities: commercialisation, data accessibility, and talent development. Since then, Genome Canada has invested approximately $1.6 billion in federal funds in large-scale applied and translational genomics research in Canada. According to the organisation, this investment has leveraged $2.4 billion in co-funding from provincial governments and other sources for a total investment of $4 billion.
Later in this guide, the emerging genomics powerhouses of the Asia-Pacific region, including China, the UAE, India and Singapore.
Challenges
As it stands, there are some key challenges shaping the current genomics market. The below chart lists the challenge, and the potential solutions required to overcome them.
| Challenge | Solution |
| Data scale and complexity | Sequencing generates massive datasets that require advanced storage, computing power, and bioinformatics to process and interpret meaningfully. A potential solution are cloud-based platforms and AI-driven analytics to help manage and interpret vast genomic datasets. The UK Biobank, for instance, has developed the UK Biobank Research Analysis Platform (UKB-RAP), a secure, sophisticated, and user-friendly cloud-based tool. |
| High costs and accessibility | While sequencing costs have dropped, implementing genomics in clinical practice remains expensive, limiting equitable access worldwide. To tackle this, public–private partnerships and technology innovations are driving down sequencing costs and broadening access, such as Illumina’s NovaSeq X platform and the 100,000 Genomes Project. |
| Integration into healthcare | Translating genomic insights into routine medical care is slowed by fragmented healthcare systems, lack of clinician training, and uneven adoption of precision medicine. Embedding genomics into national health systems through training and infrastructure is the key to overcoming this, such as the work NHS Genomic Medicine Service does by integrating genomic testing into standard care pathways. |
| Ethical, legal, and privacy concerns | Managing sensitive genetic data raises challenges around consent, ownership, and potential misuse of information. Clear governance frameworks and federated data models that protect patient privacy while enabling research is essential to overcome this. For instance, the Global Alliance for Genomics and Health (GA4GH), a non-profit alliance with host institutions in the US, Canada, and the UK, develops international standards for secure, ethical genomic data sharing. |
| Regulatory hurdles | The rapidly evolving pace of genomics often outstrips regulatory frameworks, slowing the approval of diagnostics, therapies, and data-sharing initiatives. A potential solution to this would be collaborative regulatory science and adaptive approval pathways. The FDA’s Oncology Center of Excellence and its Real-Time Oncology Review pilot aim to accelerate genomic-driven cancer therapies and diagnostics. |
| Reimbursement and value demonstration | Payers still demand robust evidence of cost-effectiveness for genomic tests and therapies, creating barriers to widespread uptake. Building strong evidence of clinical utility and cost-effectiveness is how to overcome this. For instance, the US’s Centers for Medicare & Medicaid Services (CMS) now provides coverage for FDA-approved or -cleared NGS tests for advanced cancer patients, while Cancer Care Ontario’s Genomics Program evaluates and funds select genomic tests (eg. BRCA testing, molecular profiling for targeted therapies) within the public health system, ensuring cost-effectiveness while expanding equitable access to precision oncology across the province. |
Conclusion
This overview of the genomics field shows how much it has evolved, from foundational milestones like the Human Genome Project to a high-growth global market driving advances in drug discovery, precision medicine, and therapeutic development.
With North America and the UK leading the charge, bolstered by strong public funding, integrated healthcare systems, and academic–industry partnerships, other regions such as Canada and emerging Asia-Pacific nations will rapidly start contributing to the landscape, which is covered later in this report.
Challenges remain, but innovation is steadily addressing these barriers. Looking ahead, genomics is positioned not only as a scientific cornerstone but as a transformative force in global healthcare, enabling more precise, effective, and equitable treatments for a wide range of diseases.