5 takeaways:

➀ Give it up for molecular biology. Green says the most significant development in the field of genomics occurred during the 1970s and 80s, a period he refers to as the “molecular biology revolution.” That’s when the tools that allow scientists to clone, manipulate and amplify DNA were developed. [Transcript | Video]

➁ The Human Genome Project was the ultimate genetic adventure. By the late 1980s, researchers in the field of human genetics had one burning question: Can we map and sequence the human genome? Over 13 years, scientists sought to determine the first sequence of the roughly three billion letters in the human genome and all of human DNA represented by those letters.

➂ It cost about a billion dollars to generate that first human DNA sequence. If the Human Genome Project was to help researchers better understand diseases and have widespread use as a clinical tool, the cost would have to fall – and it has. “Through a number of new technological innovations and all new methods for sequencing DNA, we can now sequence a human genome for less than $1,000, and the price continues to drop every single year,” Green said.

➃ Genomics jet-fueled the path toward rare disease discovery. On the day the Human Genome Project began in 1990, there were 61 rare diseases for which the mutation that caused the disease was known, Green said. Today, researchers have been able to characterize and determine the gene that is mutated in nearly 6,000 rare diseases, Green said. Scientists can inexpensively sequence human genomes, catalog genomic variants and figure out how they influence genome function.

➄ Fetal and newborn screenings jump-started the rare disease odyssey. New methods of DNA sequencing allow doctors to screen for chromosomal abnormalities by identifying the small amounts of fetal DNA that naturally float around in the maternal bloodstream, Green said.  It’s estimated that five to seven million pregnant women a year worldwide are now getting this non-invasive prenatal genetic testing. There’s also a growing field of study around a set of medications that can be matched to patients using genomics. That practice, known as pharmacogenomics, simply recognizes that every person responds differently to medication in part due to differences in our DNA. Knowing those differences will help physicians prescribe the best possible medication for individual patients.

This program was sponsored by Fondation Ipsen. NPF is solely responsible for the content.