When it comes to scientific achievements that have advanced the practice of medicine, you’d be hard pressed to find one more influential than the Human Genome Project.
The project, a federally funded collaboration between scientists around the globe, began in October 1990 with the goal of improving our knowledge of human biology by sequencing an entire human genome, which is the complete set of DNA in a cell.
Nearly 13 years and $2.7 billion later, the project wrapped up in April 2003, and scientists around the world now use the reference human genome to study genetics, biology, and more. Today, the entire human genome can be sequenced in as little as five hours and costs as little as $600.
What the Human Genome Project contributed
Countless innovations have come from the project, but among the most notable are improved cancer screenings and treatments, the ability to detect pediatric diseases, and enhanced drug development, experts told Healthcare Brew.
Scientists now have a better understanding of cancer because they can compare the genome of cancer cells to a healthy genome, according to Ting Wang, head of the genetics department at Washington University School of Medicine, which contributed 25% of the gene sequence to the Human Genome Project. Comparing genomes can help determine the best treatments for patients.
In addition to cancer, the project gave scientists the tools to determine the underlying causes of many childhood genetic diseases, thereby allowing doctors to better screen and treat patients, according to Richard Gibbs, founder and director of the Human Genome Sequencing Center at Baylor College of Medicine—which contributed roughly 10% of the gene sequence to the Human Genome Project.
The Human Genome Project also had a dramatic impact on drug discovery and development, Christopher O’Donnell, head of translational medicine in cardiovascular and metabolism at Novartis Institutes for BioMedical Research, told Healthcare Brew.
A 2021 study, for example, found that 33 out of 50, or 66%, FDA-approved drugs that year were supported by genomic data made possible by the Human Genome Project, he noted.
Development of Novartis’s drug Leqvio, which the FDA approved in 2021, was made possible thanks to genetic data uncovered in the project, O’Donnell said. Scientists discovered that lowering the level of a gene called PCSK9 lowers the amount of low-density lipoprotein, or LDL, cholesterol in patients by more than 50%, which can help prevent cardiovascular diseases.
The project’s limitations
Despite these innovations, the project wasn’t quite the miracle solution former President Bill Clinton touted it to be in 2000 when he said it would “revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.”
It turns out that genetics are way more complicated than scientists thought, according to Gibbs.
Originally, it was assumed that most diseases could be explained by common genetic variants. But scientists learned that disease is actually a function of a mix of environmental factors, genetic mutations, and other genetics that aren’t directly related to that mutation, O’Donnell said.
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Scientists today have a good grasp of how protein-coding genes work, O’Donnell said, but those make up just 2% of our DNA. So, a lot of genomics work today surrounds figuring out how the rest of our DNA, known as the “dark genome,” works.
The project also had a number of constraints.
For one, the scientists didn’t actually sequence the entire human genome, according to Wang—they were only able to sequence 92% of it by 2003. That’s because technology wasn’t advanced enough at the time to sequence the trickier parts of the genome, Wang explained. It took until 2022 for the Telomere to Telomere Consortium, an international collaboration of universities and government agencies, to sequence 100%.
The reference genome also isn’t a “real” genome, according to Wang—it’s a mosaic of multiple patient’s DNA.
And since it’s a composite of a few patients’ DNA, the reference genome doesn’t represent the full diversity of human DNA, Wang added. That’s why, with funding from the NIH and a number of international partners, he helped create the Human Pangenome Project in 2019, which aims to sequence 350 patients’ full genomes to get greater insight into human genetics and hopefully improve diagnostics and treatments of genetic conditions.
“We’ve made a lot of very important discoveries using the human reference genome, but it is the time to understand the impact of those limitations,” Wang said.
What comes next
With genomic sequencing continually becoming much faster to do and cheaper, there could come a day when it’s common for all patients to get their genomes sequenced and have that information stored in their electronic health record, O’Donnell said.
“That’s going to transform the way that we practice medicine and potentially make decisions about drugs,” he said.
Some companies like Inocras already offer genome sequencing kits for consumers to uncover their risk of developing certain genetic conditions. In 2023, Johnson & Johnson announced it had started to work with the biomedical database UK Biobank to give researchers an “unprecedented” amount of genetic data to speed up drug discovery, touting genomics as the “future of healthcare.”
Being able to share patient genomic data between physicians and scientists could lead to a better understanding of how diseases work, Gibbs noted.
“The ability to share clinical data in the research arena is a huge enabler, but it’s very hard to do…because of compliance and regulations,” he said. “The healthcare system does not readily lend itself to sharing its data for research and discovery purposes. Anything we can do to help pierce that wall or to create that sharing in a way that doesn’t compromise privacy and patient integrity, that could really advance the research.”
This is one of the stories of our Quarter Century Project, which highlights the various ways industry has changed over the last 25 years. Check back each month for new pieces in this series and explore our timeline featuring the ongoing series.
