The growth of genomic testing could signal a new chapter in the future of medicine. Progress in genetic screening, testing, and analytics has the potential to revolutionize the treatment of countless diseases. In particular, we believe these advancements have significant potential to create gene therapies for rare diseases. Many of these innovations could replace ongoing treatments with long-term cures. The increased power of genomic testing could therefore be enormously impactful to society. Importantly, it will also have substantial cost implications that could transform the global health care system.
In this paper, we discuss the future of genomic testing, the therapeutics it enables, and its impact on the global health care system as a whole.
A revolution in genomic testing
The Genome Project was groundbreaking and unlocked tremendous innovation potential. In the last few decades, the cost of gene mapping has reduced from millions of dollars per genome to now only hundreds of dollars per genome. It may soon fall to US$100. The falling cost of gene mapping has drastically increased our understanding of the genome and now allows us to focus on the downstream developments from this knowledge to unlock its power for drug discovery, including treatments for rare diseases.
Notably, innovation in genome sequencing technologies and strategies does not appear to be slowing down. We believe there is significant elasticity of demand as sequencing costs decline and as new clinical sequencing applications become viable. We see several new categories that have the potential to become the standard of care during our lifetime, such as more sequencing at birth, for cancer patients, and even for healthy adults, among other uses.
- Sequencing at birth: This can help identify mutations in newborn infants that could affect their health and have implications for their family members and future generations. An estimated 6% of children are born with…