Genomics: navigating the future

Genomics has revolutionised our understanding of health, from developing better diagnostics and guiding medical diagnoses to tailoring effective treatments for diseases.  

This was made possible by the first full sequencing of the human genome through the Human Genome Project, which took 13 years to complete in 2003. Wellcome was a key funder in the Human Genome Project and played a crucial role in ensuring that the insights and research were made publicly available.

Since then, technological advances in faster sequencing and data processing enabled genomic science to advance exponentially, and many more ambitious projects and collaborations have been set up. For example, sequencing human populations at scale, the Human Cell Atlas, which aims to map all the cells in the body, and the Global Alliance for Genomics and Health, an international alliance aimed at advancing human health through genomic data.  

Our work in genomics is not limited to humans. Our portfolio cuts across all life, including pathogens and biodiversity.  

Projects like the Darwin Tree of Life and others are sequencing the genomes of a diversity of species to gain new insights and knowledge that could lead to more health breakthroughs for human and planetary health.  

In pathogen surveillance, genomic sequencing enables rapid detection and characterisation of circulating pathogens like dengue and tuberculosis. By analysing the genetic characteristics of pathogens, we can identify changes that may affect disease transmissibility, severity and the effectiveness of interventions. This information is valuable for public health decision-making.

This rapid pace of growth is extraordinary. But it also comes with challenges we must address to progress genomics research into the future. For example, anticipating, understanding and addressing the ethical consequences of genomics and achieving public trust in this field of research.

Other key areas in the genomics field that also need support and focus include:

• tool and technology development and their applications to diverse areas of research
• training in genomic science  
• working with the research community to ensure that data is open, accessible and representative of diverse human populations
• engaging and developing policy around genomics  

We plan to continue investing and supporting the field in various ways.

As a large independent funder and a major player in the emergence and consolidation of genomic science, we believe we have a key role in setting its direction for the future.

One of the most critical challenges facing the field now is the low level of representation of human ancestral groups in genomic datasets. This was an unintended consequence of large-scale population sequencing that has typically focused on people of European ancestries. New sequencing technologies being more accessible in high-income countries also contribute to this gap.

Lack of diversity in genomics research impacts our understanding of the full range of human biology and limits insights. Crucially, many people around the world won’t be able to fully benefit from the health breakthroughs genomics can bring.

We recognise our role as a global funder is to push for more diversity in genomics data and enable the research infrastructure and environment to make it happen. For example, we support the H3Africa initiative and the African Bioinformatics Institute.

We commissioned a landscaping report to assess the current state of human genomic datasets globally. It found that the maturity levels of genomics research varied significantly by location – and recommended opportunities to increase diversity. For example, improving data collection by including socioeconomic data, encouraging community engagement and supporting bioinformatics training and genetic counselling.

Since the completion of the Human Genome Project, the tools and technologies being used in genomics have advanced and evolved at a previously unthinkable rate. For example, engineering biology, which is the integration of engineering principles into biology, is flourishing.  

These technological advancements must be invested in and supported, as they could completely change how we understand and develop interventions to improve health and wellbeing. But they also pose difficult questions for science and society.

While research is progressing at pace, policymakers are falling behind, and the regulatory environment is dramatically different in different countries. For engineering biology research to thrive, it must be supported by robust policy and regulation backed by ethical guidance. One way we’re supporting this is by engaging in discussions with the UK government about how we can make this a reality.

It’s equally important to enable and facilitate the development of genomic technologies and data infrastructure in under-resourced settings. This can contribute to ultimately diversifying data and lead to more equitable genomic research.

We must also find and take advantage of opportunities to use genomic technologies to address urgent health challenges. For example, genomic technologies can be used to help tackle climate-driven impacts on health and support rapid greenhouse gas mitigation.

In recent years, we’ve seen genomic techniques such as polygenic risk scores and genome-wide association studies transform our understanding of the genetics of mental health problems. This includes anxiety, depression and most notably schizophrenia. In the future, genomic technologies can help improve our understanding of who might respond to interventions.  

Wellcome is committed to supporting advancement in the field as justly and equitably as possible. This includes facilitating collaboration among scientists globally and sharing of genomics resources, knowledge and data.

Genomics, by nature, is personal – which can make public acceptance of this branch of science complicated. Consent, privacy and trust must always be crucial considerations at every stage of genomics research projects. But how can we do this in the right way?

We believe advancing our understanding of the ethical, legal and social contexts of genomics is key to answering this and is vital to progressing the field.  

There are so many difficult questions to answer around these contexts and there is no universal solution that will apply to everyone.  

Our goal in the short-term is to develop guidance for researchers on how to engage with these contexts in genomics. We’re doing this by encouraging trans-disciplinary collaboration across multiple geographies, in the hope that we unlock equitable answers and solutions to tough ethical questions.

Responding to difficult ethical, legal and social questions is necessary if genomic science is to answer the most fundamental questions about life and health.