DNA Day is April 25, and 2019 marks sixteen years since the Human Genome Project completed its work sequencing the human genome. This important scientific work set the stage for today’s era of precision medicine and for companies like OneOme. But the Human Genome Project was just one of the more visible undertakings in the world of genomics. Understanding DNA - human or not - moves science and technology forward and produces wonders like the cloned sheep Dolly as well as valuable work on vaccines for diseases like ebola.
Like much of today's technology, our understanding of genomics has a deep and fascinating back story.
Back to basics
Before we get into the true history of genomics, let’s take a brief trip to high school biology and review the fundamentals. A genome is the complete set of an organism’s DNA, which is comprised of thousands of individual genes. These genes form the instruction manual for each person, plant, or other lifeform. DNA makes individuals unique, but it’s also what makes us similar. We share 99.9% of our DNA with every other human on the planet, but that still amounts to 3 million points of differentiation between individuals. In other words, the human genome is hugely complex and contains secrets and information we've only begun to uncover.
Now that’s out of the way, let’s start our trip through time way back in the 19th century - nearly 200 years ago.
The foundation of genetic science (1850-1900)
We’ll start our brief tour through the history of genomics in the mid-19th century, with Gregor Mendel. Lauded by high school biology teachers the world over, Mendel’s experimentation in selective breeding of pea plants helped uncover the nature of inheritance through observing specific traits over numerous generations. Other advances in the 19th century include Friedrich Miescher’s discovery of DNA (then called “nuclein”), and Charles Darwin’s theory of evolution.1
The study of genetics (1900 - 1990)
While Mendel’s research in the mid-1800s went largely unnoticed, scientists in the beginning of the 20th century began to make similar findings, putting the pieces together for a more comprehensive view of how inheritance works. At the same time, two scientists, Walter Sutton and Theodor Boveri, discovered chromosomes and advanced the chromosomal theory of inheritance.1 You may remember studying dominant and recessive traits of fruit flies in biology, replicating experiments of this era.
The next big breakthrough in genetic science came in 1953, when James Watson and Francis Crick used an image taken by Rosalind Franklin and Maurice Wilkins to uncover DNA’s double helix structure. This launched what we think of as molecular biology and spurred a new era of genetic science in which researchers began working to sequence, or read, strands of DNA.
Mapping the human genome (1990 to 2003)
With the science of genetic sequencing advancing rapidly, scientists worldwide came together with the audacious aim of mapping and sequencing the human genome. In 1989, the National Institutes of Health (NIH) established the National Human Genome Research Institute (NHGRI, originally called the National Center for Human Genome Research). Then in 1990, the Human Genome Project, in collaboration with the U.S. Department of Energy, began mapping the human genome using genetic samples from an anonymous donor base.
Eleven years later, the NHGRI announced its work was 90% complete in an article in the journal Nature. Just two years later and 50 years after Watson and Crick discovered DNA’s double helix, the NHGRI announced the completion of the Human Genome Project - on April 25, 2003.2
DNA in practice today (2019)
In the years since April 25, 2003, our understanding of the human genome has advanced markedly. From the original NHGRI human genome map, scientists continue to gain insight into genetic expression. Nowadays, we use genetic information for everything from law enforcement, to finding long lost branches of our family trees, to helping providers make more informed healthcare decisions.
Precision medicine and pharmacogenomics
One of the most vital things that’s come of the Human Genome Project is giving healthcare providers the ability to use genetic data in making healthcare decisions for individual patients. This comes in numerous forms: using an individual’s DNA to evaluate hereditary risk of certain diseases, sequencing the DNA in cancer cells to create tailored treatments, and of course, identifying ties between genes and medication response, or pharmacogenomics.
Pharmacogenomics (PGx) is the study of how DNA affects observed medication response variability, and it is a well-established branch of precision medicine. For example, the U.S. Food and Drug Administration (FDA) has drug labelling for gene-drug interactions for hundreds of commercially available medications.
At OneOme, we use FDA guidelines to form the foundation of our RightMed® Test, which analyzes an individual’s DNA and provides insights to help providers in selecting medications for him or her. This test covers 27 genes more than 100 genetic variants, giving doctors, pharmacists, and other healthcare providers access to genotype information and phenotype summaries for their patients.
What the future holds
Even as you read this blog post, research is progressing around the world, uncovering new information about the human genome. In 2018, the NHGRI created a strategic plan for 2020, aimed at advancing genomic research and prioritizing areas of genomics, including technology development and using genomic information in patient care, among others. As we continue to unlock the secrets buried in the human genome, we can look forward to a future where healthcare - from prevention through intervention - is increasingly tailored to the unique genetics of each individual.