Collins FS, et al. and Nature article

Fifty years ago, at a time when sequencing even a handful of nucleotides was problematic, the concept of sequencing the human genome seemed absurd. Yet, five decades later, we have an unparalleled understanding of the human genome, including genetic variations and disease pathologies. We’ve even learnt how to manipulate this information to treat diseases, such as sickle cell disease and COVID-19.
In a review for the New England Journal of Medicine, Collins FS et al. look back through the history of genetics and genomics; starting back in the 1970s, when the first recombinant DNA technology and techniques for DNA sequencing were developed. Since then, advances in technology have allowed faster sequencing processes, from 1000 base pairs per day to 1000 base pairs per second and cost reductions from $3 billion for a complete genome sequence to just $600 today.

These advances have led to the discovery of over 1000,000 associations between genomic regions and common diseases, and the genes responsible for more than 5,000 rare mendelian diseases. Studying patterns of gene expression has led to the characterisation of tens of millions of cells, in what the study authors describe as “a complete cell atlas of the human body.”

Despite its rapid development, the research area is still in its infancy. Long-term safety is yet to be determined and many of the researchers and participants involved in sequencing studies are from European ancestry, leading to a lack of diversity in our understanding of biology. This raises concerns around whether therapeutics derived from these analyses will benefit all populations.

Creating treatments based on genetic information has also proven challenging, with high costs and long development times. However, exciting progress is being made with RNA-interference therapeutics, technology that utilises an understanding of genetic code to selectively block the production of specific proteins. In the last few years alone, therapeutics have been developed that treat the underlying cause of previously untreatable diseases. They have also proved crucial during this pandemic, with both Pfizer and Moderna utilising this technology to create vaccines for COVID-19.
A bright future is on the horizon for genetics and we’re excited for the next fifty years.

Read more about the history of genetics and genomics
Read about the use of RNAi therapeutics in COVID-19