- The cost of sequencing a human genome has decreased dramatically since 2003---from $3 billion to $1500.
- For biopharma companies, the goal of amassing large collections of human genomes is to expedite the development of targeted, gene-based therapies.
- Numerous companies are actively involved in R&D driven by large-scale and innovative gene sequencing, including companies, such as Regeneron, Pfizer, Genentech, Biogen and Roche.
Successful R&D based on genomic sequencing is no longer a pipe dream. It's a concrete reality that has taken the form of many existing treatment options. For example, Pfizer's Xalkori, which is used to treat lung cancer targets specific mutations in targets. And Vertex Pharmaceuticals has made headlines with ground-breaking gene-based treatments for cystic fibrosis (CF), including Kalydeco and Orkambi.
For years, drug makers have been collections mega-databases of human DNA with the goal of developing targeted therapies for everything ranging from chronic diseases, such as hypercholesterolemia, to very rare cancers and orphan diseases.
For example, Regeneron has partnered with Pennsylvania's Geisinger Health System to sequence partial genomes of 250,000 volunteers and been able to target 250 specific target genes to use as the basis for drug development. There was a time, before the Human Genome Project was completed, when finding a target gene was a serendipitous, labor-intensive, painstaking process. For example, in 1991, researchers discovered a rare mutation in the Angptl3 gene, which is associated with hypercholesterolemia. They discovered it among a group of families in a remote village in Italy. Now, however, because of the availability of large amounts of genetic data, scientists have genetic data from the most remote parts of the world available at their behest.