HGP is now helping scientists make unprecedented discoveries, such as:
Direct sequencing of DNA opens the door to new insights. It enables more sophisticated multiomic analyses, helping bridge genotype and phenotype. Direct sequencing also accelerates discovery for applications ranging from pre-implantation diagnostics and carrier screening, as well as improving drug safety and efficacy (e.g. pharmacogenomics).
What will it mean for our economy?
Genomes and gene editing are revolutionizing biotechnology, healthcare, medical research, artificial intelligence and beyond – but they also present significant economic challenges. With their rapid expansion creating massive new jobs but insufficient genomics professionals available to fill them. This puts the industry at risk of burnout as its pipeline of potential therapies slows. Moreover, genomics is extremely data intensive: just one patient exam generates over one terabyte of data that needs to be integrated and analyzed before providing meaningful insights; but do healthcare operations have enough infrastructure in place?
As costs for DNA sequencing and synthesis continue to decrease, the market will likely become more concentrated between large-scale centers performing both analytic and interpretive processes. Estimates show this is already happening: North America now accounts for 42% of the global sequencing market due to high-speed computers required by genome analyses needing to manage such large amounts of data.
Although scale may play a factor, larger laboratories tend to be more economically efficient in performing genome data analysis and interpretation due to CLIA oversight – and sequencing counts as clinical testing. With larger laboratories performing genome data interpretation it becomes even more cost effective to analyze it all under CLIA regulation and thus become a key element of medical testing.
This approach raises a number of ethical concerns. These have been voiced in both the Universal Declaration on Human Genetics and Health (UDHGHR) and International Biobanking and Genomics Ethics Report [2], which suggest that social valuation of genomics depends on coevolution with evolving scientific technologies, while technological/genetic advancement should be assessed against their impact on human rights.
Genetic information has become more personal as genomic technologies advance and research initiatives like All of Us Research Program and similar ones become available globally, raising questions of access, ownership and control over personal genomic data. Furthermore, population-based genomic studies may exacerbate existing inequalities or group vulnerabilities; as evidenced by some indigenous communities’ recent resistance against All of Us Research Program.
