As our Genomics mini-series has been exploring to date, genomic medicine is rapidly transforming healthcare across the globe, offering unprecedented potential to diagnose, treat, and prevent diseases with precision and on a personalised basis.
As the science of genomics advances, countries around the world are harnessing its potential to improve patient outcomes, drive personalised treatments, and address a wide range of health challenges. However, the interest around genomic medicine extends beyond just scientific breakthroughs; it also sparks a global conversation about how best to regulate, govern and incentivise these innovations.
At the heart of this discussion lies the critical need for adequate funding, novel initiatives, clear regulatory pathways and intellectual property frameworks that both encourage ground-breaking research and innovation, while simultaneously safeguarding ethical principles. These challenges are not confined to any one jurisdiction, but are shared worldwide, requiring both individual and coordinated efforts to shape the use and governance of genomic medicine.
This article will look to bring together snapshots from governments and regulatory bodies across the globe. It will explore how different countries are benefiting from the advancements of genomic medicine, highlighting both the progress made and the initiatives put in place to propel its future development.
United Kingdom
The UK has positioned itself as a leader in the field of genomic research and healthcare innovation through significant investments in genomic science and the integration of genomics into its healthcare system.
One of the key initiatives driving this progress has been the 100,000 Genomes Project, launched by Genomics England in 2012, which aimed to sequence the genomes of 100,000 individuals, including patients with rare diseases and cancer. [1] This project helped propel the UK into its leading position in the genomics space. It has not only expanded the country’s genetic databases and analytical capabilities, but also helped to translate genomic discoveries into clinical practice, enhancing the diagnosis and treatment of various conditions. It was made clear at the time the project was launched by then-Prime Minister David Cameron, that one of the aims of the project was to make the UK a world leader in the genomics field within five years – arguably something the project has very much succeeded in achieving.
Not only are new research projects and initiatives being heavily invested in within the UK, we are seeing genomic medicine being integrated into our health care systems and used as part of routine care pathways in the UK too. For example, the NHS has openly embraced genomic medicine, offering patients access to cutting-edge genomic tests as part of routine healthcare, from new born babies with the new born blood spot screenings, [2] all the way through to the older generations that may be suffering from rare or inherited diseases.
The UK's commitment to advancing genomic research is further supported by collaborations between academic institutions, healthcare providers, and the private sector. By fostering an environment of innovation, investment in technology, and a focus on personalised medicine, the UK continues to lead the way in the application of genomics to improve public health.
In my recent interview with Dame Sue Hill (Chief Scientific Officer for England), she further highlighted the importance and focus that the NHS and UK government are placing on genomic testing and medicine advancements. With regard what we can expect to see from this field in the future, she stated: "The future will see genomics expanding into population and predictive health approaches such as in the use of polygenic risk scores for common diseases or in more widespread testing for inherited cancer risk exemplified in the current project testing for BRCA in specific populations. However, there will be many more advances in the field of diagnostics more generally … Going forward I am excited to lever innovation to move societal reliance from reactive healthcare towards a preventative health system for patients and families to achieve earlier care to transform lives, to reduce health inequalities and to enable science to help level up life changes."
United States
An example of another country that fosters innovation in relation to genomic medicine is the United States. The United States has been at the forefront of genomic research, with institutions like the National Institutes of Health (NIH) and the Centers for Disease Control and Prevention (CDC) playing pivotal roles in advancing genomic medicine. From the Human Genome Project at NIH to the subsequent and continued funding of research to continue deeper discovery of the role the genome plays in living beings, the country has invested heavily in genomics related initiatives, and continues to fund cutting-edge research aimed at integrating genomics into healthcare.
The National Human Genome Research Institute (NHGRI) at the NIH partners with the scientific and medical community to advance the research, science, and medical technology in this field. The Institute was originally established at NIH, the United States’ primary medical research entity, to sequence the human genome. This initiative, the Human Genome Project, was completed in April 2003. Since this revolutionary accomplishment, NIH has continued to invest significantly in genomics discovery and research. Some recent initiatives are described in more detail below:
- All of Us Research Program – In February 2024, NIH announced that researchers had discovered 275 million previously unreported genetic variants identified from data shared by 250,000 participants in the NIH’s All of Us Research Program. The All of Us program was launched in 2015 and focuses on improving healthcare by building a diverse database of one million or more people living in the United States. NIH announced that these newly discovered genetic variants provide researchers with new pathways to better understand genetic variants of communities that have previously been left out of research in the past.
- Improved Genetic Tests – In February 2024, NIH announced that it had devised new methods to improve a genetic test called a polygenic risk score. The risk scores have been recalibrated to include ancestrally diverse genomic data. Researchers used data from health records and ancestrally diverse genomic data collected by the All of Us Research Program. Researchers collected polygenic risk scores for 10 common health conditions, including breast cancer, prostate cancer, chronic kidney disease, coronary heart disease, asthma, and diabetes. After analysing disease risk with the recalibrated scores, researchers identified about one in five participants who were found to be at high risk for at least one of the 10 diseases.
- RNA Research – In June 2024, NIH partnered with the U.S. National Science Foundation (NSF) to provide $15.4 million over three years to research structures, functions, and interactions of RNA and create new RNA-based technologies. The funded entities are focusing on synthesising long RNA molecules to probe genomic pathways to develop new drugs as well as expanding the capabilities of nanopore sequencing and mass spectrometry.
- Genomics-enabled Learning Health System (gLHS) – In September 2024, NIH awarded funding to establish the gLHS network. This new network aims to support the integration of genomics into learning health systems to translate genomic data quickly and directly into improvements in medical care.
- The Genome Statute and Legislation Database (GSLD) – The GSLD was created in 2014 to organise and search federal-level and state-level genomic legislation. The NHGRI recently announced that the GSLD received a revamp and expanded its volume of legislation cataloged within the database. The database covers over 1,200 entries and now includes a feature that displays the bill status of each piece of legislation.
Other agencies in the United States government are also integrating genomic advancements into their work. For example, in August 2020, the U.S. Food and Drug Administration approved the first liquid biopsy companion diagnostic that uses next-generation sequencing (NGS) technology to identify patients with specific types of mutation of epidermal growth factor receptor gene in a deadly form of metastatic non-small cell lunch cancer.
The United States is a clear trail blazer in this space, and there is no doubt that health care systems across the globe will benefit from the funding and research being undertaken by it.
France
France has long been demonstrating its commitment to advancing genomic medicine and research, more recently introducing the French Plan for Genomic Medicine 2025 (PFMG) [3].
PFMG is a pioneering initiative launched by the French Ministry of Health, aiming to integrate high-throughput genomic sequencing into patient care. The plan initially aimed to establish a network of ten genomic sequencing platforms across France by 2025. A cornerstone of the initiative was an aim to identify 60 "pre-indications", being specific cases where genomic sequencing can provide more accurate diagnoses and guide optimised treatment strategies.
The initiative has so far established two sequencing platforms—SeqOIA (Île-de-France) and AURAGEN (Auvergne-Rhône-Alpes), as well as a centralised data infrastructure, the Data Collector Analyser (DCA). The DCA plays a critical role in collecting, analysing, and interpreting genomic data for both clinical and research purposes at the national level, laying the groundwork for large-scale integration of genomics into healthcare.
Like the initiatives in place in many jurisdictions, the PFMG operates within a stringent legal framework that prioritises privacy and ethical considerations, in that it is subject to both privacy regulations and stringent regulatory requirements (including most notably the revised French Bioethics Laws of August 2, 2021, which uphold strict limitations on access to genetic testing) [4]. These regulations ensure the protection of sensitive genomic data by mandating explicit, informed consent, robust data security, ensuring medical oversight and maintaining transparency in the access to and use of genetic information.
France has not been working on the roll out of this plan in isolation, it has been harnessing collaboration opportunities as well. For example, in alignment with the 2018 UK-France Summit, France partnered with Genomics England to harmonise efforts between its PFMG and the UK’s 100,000 Genomes Project [5]. This collaboration, endorsed by leaders such as French President Emmanuel Macron and UK then-Prime Minister Theresa May, sought to accelerate genomic research and healthcare advancements through shared infrastructure, talent, and technological innovation.
Despite its ambitious vision and initial progress, the PFMG has faced significant challenges. Sequencing capacity remains below expectations and professionals in the sector have also highlighted key obstacles, including regulatory complexities, difficulties in accessing patient or tissue data and a lack of centralised coordination, all of which impede the program's ability to scale effectively and deliver on its transformative goals.
The future of the PFMG beyond its 2025 public funding horizon remains uncertain. Addressing its operational, infrastructural and regulatory hurdles will be essential in ensuring this pioneering initiative continues to revolutionise healthcare in France and establish a global benchmark in genomic medicine.
Germany
Germany is another country we can look to, where its commitment to the advancement of genomics medicine is a clear priority.
In January 2020, Germany, along with many other European member states, joined the EU genomics initiative '1+ Million Genomes', which aims to provide secure access to genomics and related clinical data across Europe. In this context, Germany has since launched its own nationwide initiative called GenomDE, which cleared the final legal hurdles in Summer 2024 and has now started clinical application. With GenomDE, Germany aims to position itself as a competitive player at the highest international level and to implement and establish medical genome sequencing into its healthcare system.
GenomDE is a knowledge-generating, data-driven healthcare initiative funded by the German Federal Ministry of Health and the European Commission, designed as a model-project to run for at least five years. It focuses on improving the prevention, diagnosis, and treatment of rare diseases and cancer through genome sequencing. The project involves leading medical networks, professional associations, and patient advocacy groups. By screening individuals for genetic changes, it will enable early diagnosis and treatment and create a data platform for medical genome sequencing. The data collected will be used for scientific research and treatment evaluation, with the aim of integrating genome sequencing into standard care for better diagnosis and personalised therapies. Key components include a legal and ethical framework, data infrastructure, cost reimbursement and a communication campaign targeting the public and healthcare professionals. It also includes training of medical staff and addressing legal requirements such as data protection and regulatory issues.
This initiative will no doubt be one to watch as it starts being applied in clinical settings, to see what other countries may be able to learn from it and integrate into their own health care research and practices.
UAE
The UAE is another strong player in the genomics field, keeping pace with Europe and the United States in terms of its more recent genomics commitments. In recent years, the UAE government has made significant investment in infrastructure and research, with several new initiatives launched, including:
- The Emirati Genome Programme (EGP) - launched in 2019, the EGP aims to revolutionise care by building a comprehensive understanding of rare genetic disorders and developing personalised diagnostic testing and treatments. The EGP, a public-private partnership between healthcare technology company, G42, and the Department of Health for Abu Dhabi, uses genomic data gathered from Emirati citizens to map the genetic makeup of the country's population and create an Emirati 'reference genome'. The project is set to create one of the world’s largest, most diverse genomic databases; at least 500,000 samples have been collected to date, and the country aims to invite every Emirati to participate. The UAE Genomics Council will regulate, supervise, and guide the implementation of the EGP into the healthcare system, as the aim is to use the genomic database to improve healthcare at both the population and individual levels.
- The National Genome Strategy (NGS) - launched in 2023, the NGS runs for 10 years and establishes a legal framework to regulate the use of genomics in healthcare and personalised medicine more broadly. The NGS addresses the challenges that arise from large-scale use of genomics technologies, such as data protection and storage, by developing legislation to support secure data infrastructure and policies to facilitate the alignment of genomic applications to public health priorities. [6]
- Federal Law by Decree No. 49 of 2023 (The Genome Law) – effective from 1 December 2023, this law establishes a comprehensive framework to regulate genomic data usage, ensuring ethical practices and individual privacy. It mandates informed consent for genomic and genetic screening, prohibits non-therapeutic genetic alterations, and supports gene therapy and scientific research under strict guidelines. The law also creates a national genomic database to manage data collection, storage, and usage, with stringent penalties for unauthorised use or disclosure. [7]
It is clear that the future is promising for the use of genomics in the UAE health care systems. The country's high-quality healthcare services mean that any advances in precision medicine, particularly in relation to rare diseases, could be accessible to the public more quickly than in other countries. [8]
Australia
Last but by no means least, we look to the efforts taking place in Australia, where there is a clear priority placed on investing in genomics research in order to facilitate high-quality patient care in the country.
The Australian Government has demonstrated a strong desire to emerge as a global leader in genomics, developing robust policy frameworks and investing in Australian genomics research and its integration into the healthcare environment. In a recent media release, the Hon Mark Butler MP, Minister for Health and Aged Care, reaffirmed the Australian Government's commitment to "putting Australia at the forefront of research, development and the use of genomic medicine to help save lives and to grow this important sector of health care". [9]
The use of genomic sequencing technology has particularly exciting applications in the cancer and rare disease spaces – allowing for the precise targeting of relevant genetic mutation in individual patients. Further, Australia, being a highly culturally diverse population, stands to gain significant advantage from the continued implementation of genomics in clinical practice. Over 150,000 structural variants have been identified in Indigenous Australian populations, some appearing to be exclusive to the individual community groups. [10] Precision medicine is likely to allow greater personalisation of treatment, leading to improved clinical outcomes and a reduction in off-target effects.
The National Health Genomics Policy Framework, implemented in 2018, set out a roadmap to deliver a coordinated national approach to integrating genomics into healthcare. This framework cited five strategic priorities, including the delivery of high-quality care for people through a person-centred approach to genomics, building a skilled workforce that is literate in genomics, and the responsible collection, storage, use and management of genomic data. [11] As part of this approach, $500.1 million (AUD) was committed by the Australian Government's Medical Research Future Fund to the Genomics Health Futures Mission, for use over a ten year period, for "genomic research to deliver better testing, diagnosis and treatment". [12]
In November 2024, the Australian Government announced that a new national body, Genomics Australia, will be established from 1 July 2025 within the Department of Health and Aged Care. Critically, Genomics Australia will focus on bridging the gap between genomics research and everyday patient care. Genomics Australia will be tasked with implementing the updated National Health Genomics Policy Framework in states and territories, upon its publication.
In terms of current initiatives, the second version of the National Microbial Genomics Framework is currently in its final stages of review and is expected to be published before the end of the year. This framework focuses on the leveraging of genomic sequence information of pathogens in the development of therapeutic goods.
Notably, the National Gene Technology Scheme has recently closed its consultation period for the first major amendments to the Gene Technology Act 2000 (Cth) – "regulating certain dealings with Genetically Modified Organisms (GMOs)", since its implementation. [13] The draft amendments include proposed updates to streamline GMO licence authorisation pathways where appropriate, and handing of Applicant's confidential commercial information by the Office of the Gene Technology Regulator.
As Australia "stands on the precipice of a revolution in genomic research",[14] it is clear that the delivery of world-class genomics research and translation into clinical practice remains a significant priority for the Australian government.
Conclusion
As this article highlights, the diverse approaches and initiatives taken by countries around the world to advance genomic medicine reflect the global commitment to harnessing the potential of genomics in healthcare. From the United States' robust investment in research and personalised medicine, to France's pioneering national genomic program, and England's leadership in integrating genomics into public healthcare through initiatives such as the 100,000 Genomes Project, each country has contributed to the revolutionary development of the field.
As investment, collaboration and innovation continue to drive progress, the global landscape of genomic medicine promises to transform healthcare, offering new possibilities for diagnosing, treating, and preventing diseases. If countries can continue to make sufficient funding, investments and incentives available, and work efficiently and effectively across jurisdictions, as well as independently, the genomics field will no doubt continue to develop exponentially over the coming years.
Acknowledgements
A special thanks goes out to our DLA Piper colleagues who kindly shared their local insights and expertise in the genomics field for this piece, allowing us to gain a well-rounded understanding of the diverse efforts and commitments different jurisdictions are taking with regard the advancement of genomic medicine. Namely:
United States:
Senator Richard Burr and Rachel Portman
France:
Marion Abecassis, Marion De Galembert and Karla-Alexandra Depenne
Germany:
Mikael Kurki and Pia Riemenschneider
UAE:
Adam Vause, Celia Johnson-Morgan and Katie Edwards
Australia:
Nicholas Tyacke, Jordan Davis and Polly McKenzie
[1]100,000 Genomes Project | Genomics England
[3] France Médecine Génomique 2025 – PFMG 2025
[4] Law n° 2021-1017 of 2 August 2021 relating to Bioethics: LOI n° 2021-1017 du 2 août 2021 relative à la bioéthique (1) - Légifrance
[6] National Genome Strategy - Emirates Genome Council
[7] United Arab Emirates Legislations | Legislations
[8] ey-ae-future-of-health-05-2024.pdf
[10] The landscape of genomic structural variation in Indigenous Australians - PMC
[11] National Health Genomics Policy Framework 2018–2021
[12] Review of the Genomics Health Futures Mission
[13] Federal Register of Legislation - Gene Technology Act 2000
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