It has been 20 years since the first draft of the human genome was unveiled. The ambitious project to sequence the genome has laid the groundwork for thousands of innovative and inspiring projects that aim to make a difference for future generations.
A long time ago in a galaxy far, far away…
Similar to the race to develop a COVID-19 vaccine, the task to sequence the human genome sparked great rivalry. The Human Genome Project (HGP) was set up in 1990. Its aim was not only to sequence the human genome, but to ensure this data was freely accessible for researchers. Elsewhere, Craig Venter’s Celera Genomics aimed to sequence the genome faster but to make the data only available to paying customers.
This rivalry ended in 2000 when Celera and the HGP simultaneously published their first drafts of the human genome. The HGP continued working on this, resulting in the release of the ‘complete’ sequence in 2003.
At the start of the project, the HGP was met with a lot of scepticism by both scientists and non-scientists. A major concern was the cost. However, as we reflect upon the impact that this project has had on the field of genomics, it is apparent that the lessons we have learnt are invaluable.
A map to nowhere?
At the start of the project, people began to predict the endless possibilities that could come from this project. Hopes of curing disease and personalising healthcare alongside fears of ‘designer babies’ and genetic prejudice manifested. Media outlets propagated these hopes and fears, sharing in the hype. Importantly, it stimulated debate and conversations that were and continue to be critical in the genomic and wider scientific community. These debates and conversations have thus shaped our aims and vision for the future of genomics.
Nonetheless, critics of the project today still argue that researchers and supporters vastly oversold it. They argue that whilst it has had some impact on a few rare diseases, it has had limited clinical value in other key areas such as psychiatric disorders. An opinion piece published in The Dallas Morning News argues that focus needs to shift from genetic risk factors in these common diseases to focus on the environment. Nonetheless, the study of environmental factors cannot come without consideration of its interaction with the genome. Therefore, the HGP was necessary to understand the complexity of gene-environment interactions and thus provide insight into these diseases.
Some argue that groundbreaking discoveries, including gene editing tools, were actually unearthed through other research e.g. microbial and animal studies. Whilst the HGP project may not be behind all discoveries, it has revolutionised genomics. It represents the face of a new era. The HGP has inspired a new era of innovation and discovery that aims to make a difference for future generations.
The project catalysed the development of other projects and collaborations across the world. These include the Cancer Genome Atlas (TCGA) and the 100,000 Genomes Project. With these projects came a surge of international collaborations, not just across organisations but also disciplines. In recent years, we have seen an unfolding of data sharing that has enabled significant scientific advancements.
Today, human genome sequencing costs less than $1,000 per genome. Advancements in technology have enabled refinement of the human genome with increasing accuracy. As a result, this has led to genetic testing being a mainstay for disease diagnosis and treatment-led management. From knowing the genetic code, the dawn of precision medicine arose. This approach aims to move away from the idea that ‘one size fits all’ to a more personalised approach, incorporating genetic and other types of data. This has been particularly prominent in oncology. Understanding of the human genome has provided valuable insights into how the cancer genome transforms the cell and enables cancer progression and metastasis. This has allowed for early diagnosis, prognosis and targeted treatments in cancer patients.
An example of groundbreaking progress which has stemmed from our ability to understand the genetic code is gene editing. Specifically, in recent years, the development of CRISPR/Cas9 technology has shown great promise in the research field, being able to target and manipulate nucleic acids. Nevertheless, concerns about the accuracy and safety of gene editing for humans remain. Furthermore, ethical and regulatory problems need to be considered at a national and global level.
Since the HGP and the increasing amount of data, a new generation of bioinformatics experts and computational biologists have emerged. These experts have helped bring genomic data to a wider audience. Professionals are slowly integrating genomics into clinical practice and the need to train staff is apparent. In particular, leaders are now integrating genomics into courses for key healthcare workers, including nurses.
A glimpse into the future
The ongoing COVID-19 pandemic has emphasised the value of genomics and the importance of knowing our genetic code. Researchers have been able to trace the epidemiology of the virus and determine why humans are susceptible. We have also been able to determine why some individuals are more susceptible and have developed potential vaccines and therapeutic targets because of this knowledge.
The HGP set in motion genomic research that has and will continue to revolutionise academia and healthcare. It has created an environment where creativity and ambition can thrive. For example, the field of synthetic biology is accelerating, gene editing is becoming more precise and DNA is even being used to store data. The HGP has provoked debate and led people to strive towards making the impossible possible. Most importantly, the HGP has led to research and collaborations that are patient-focused. We often forget the purpose of a lot of our research, which is to benefit all living life.
Critics may argue that the HGP was a failure, but I ask you: Is it a failure to save a human life? Is it a failure to allow people an opportunity to prepare for the future? Is it a failure to make one small step in the right direction? For all I can see is triumph and we must continue to triumph even in the darkest of times.