When the Human Genome Project was completed in 2000, Bill Clinton, then president of the United States, called it 'the most important, most wondrous map ever produced by humankind'. This seemed undisputable at the time, for the completion of this research was a true triumph of science and technology and seemed poised to help scientists uncover countless secrets about our species.
To a certain extent this goal has been achieved, as an increased understanding of human sequence variation has allowed the roots of genetic diseases to be investigated, and the technology developed in the original project has allowed for the completion of further landmark projects that have enhanced the practice of medicine, such as The Cancer Genome Atlas. But is this only a glimmer of the true potential of a reference genome?
A new animation called 'The Human Pangenome' created by Massive Science in partnership with the National Human Genome Research Institute shows that this may be the case. It details the exciting upcoming effort to produce the first comprehensive and diverse reference genome.
The animation begins with a discussion of how the Human Genome Project was unable to generate a complete sequenced genome, and it does not provide an accurate representation of human genetic diversity. The data cannot be used as an accurate baseline reference for all humans as different populations have vast genomic variations that are unaccounted for by the small sample size used in the original endeavour.
It goes on to describe how the Human Genome Reference Program, along with the Telomere-to-Telomere consortium will sequence and combine 350 complete genomes from ancestrally diverse people to create a 'pangenome' that will serve as a significantly more representative reference for future research in the genomics field. This has the potential to have an incredible impact upon our understanding of medicine.
Effective scientific communication of research that will directly affect public life is monumentally important. This animation serves as a unique example of the benefit of innovation within the scientific world, as it not only describes new technology that will enhance research but serves as an example of beneficial technology itself. The use of animation techniques as a way of synthesising complex material into a short and easy to understand experience is an incredibly useful scientific communication device that makes new research easy to distribute and accessible to a range of ages.
In an interview with Dr Dan Samorodnitsky, the animator Rosanna Wann mentions how she was inspired by the analogy of puzzle pieces coming together. This element of the animation really stuck out to me, and although Wann makes a point of saying that all visuals are up for interpretation, I think it lends itself once again to the message that this project aims to unite and embody human diversity.
Although the creation of a pangenome is just a stepping stone towards the goal of uncovering all secrets about the human genome, it will be a huge improvement from the original reference code and will hopefully begin to undo the biases which have surrounded genomic research in the past.
The Human Pangenome is freely available to watch on Vimeo, and there are further information links after the description on Vimeo for those who wish to delve deeper into the research behind it.