Ten Important Moments on the Path to Precision Medicine

We’ve come a long way since Gregor Mendel, the father of modern genetics, presented his research on experiments in plant hybridization in 1865. The Augustinian monk spent years crossing pea plant varieties in a monastery garden in the Czech Republic. His big discovery – that genes determine traits in predictable ways – is more relevant today than ever before.

As we wrote last week, 2016 is a big year for precision medicine. Geisinger Health just enrolled 100,000 participants in a study linking health records to large-scale DNA sequencing data, and the federal Precision Medicine Initiative (PMI) is on track to sequence 1 million genomes by the end of 2019.

Genomic medicine is progressing at a shocking speed, especially considering that the entire human genome was first sequenced just twelve years ago. To put the speed of these developments in context, here are ten important moments on the path to precision medicine (informed by this timeline from the National Human Genome Research Institute).

1. 1865 – Gregor Mendel presents his research on experiments in plant hybridization. Mendel becomes known as the father of modern genetics for his finding that genes determine traits in particular ways.
2. 1953 – Watson and Crick discover the double helix structure of DNA. Using paper cutouts and metal scraps from a machine shop, the scientists represent sugars and phosphates forming the outer strands of the helix and the bases (A, C, G, T) pointing into the center. Their 1953 paper notes that the model “immediately suggests a possible copying mechanism for the genetic material.”
3. 1983 – Invention of Polymerase Chain Reaction (PCR) technology for amplifying DNA. PCR is a relatively simple and inexpensive technology used to make billions of copies of a segment of DNA. The technique revolutionized the study of DNA and is still used every day to diagnose diseases. The same year, Huntington’s becomes the first genetic disease to be mapped, paving the way for future linkages between specific diseases and variants in the DNA sequence.
4. 1990 – The Human Genome Project emerges out of conversations since 1984 between the U.S. Department of Energy, the National Institute of Health, and international groups studying the human genome. Expected to last 15 years, the project would develop technology for analyzing DNA to map and sequence human and other genomes while studying related ethical, legal, and social issues.
5. 2003 – The Human Genome Project is completed two-and-a-half years ahead of time and significantly under budget. Sequences produced by the Human Genome Project covered 99 percent of the human genome’s gene-containing regions. The project also succeedes in sequencing the genomes of other organisms and develops new technologies for studying whole genomes.
6. 2014 – Illumina makes the $1,000 genome a reality, introducing a new sequencing machine. The $1,000 genome had been a catchphrase of the sequencing industry for years, referring to the chasm between the cost of the Human Genome Project – an estimated $2.7 billion over a decade – and the benchmark for routine, affordable personal genome sequencing.
7. 2014 – Geisinger launches the MyCode Community Health Initiative in collaboration with Regeneron Genetics Center. MyCode aims to recruit 100,000 study participants as the largest U.S. study that links electronic health records to large-scale DNA sequencing data.  
8. 2015 – President Obama announces the Federal Precision Medicine Initiative (PMI) at his State of the Union Address. The initiative devotes $215 million from the federal budget to “enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward development of individualized care.”
9. February 2016 – The NIH makes the first awards under the PMI to begin building a national, large-scale research participant group. An award is given to Vanderbilt University in collaboration with Verily (formerly Google Life Sciences) to launch the first phase of the PMI Cohort, laying the foundation for a national cohort study involving 1 million U.S. volunteers.
10. April 2016 – Geisinger’s MyCode study reaches 100,000 recruits and sets a new goal of 250,000, putting the United States on track to be the leading country for precision medicine by the end of 2016.