We Mapped the Human Genome 20 Years Ago. With More Sequencing Power, What Can We Do Next?

The following is a guest article by Josh Gluck, VP for Global Healthcare Technology Strategy at Pure Storage.

The world’s scientific community continues to break records. In the fight against COVID-19, the ability to leverage massive information sharing is leading to a more accurate picture of the disease and accelerating the development and testing of candidates for therapeutics and ultimately a vaccine.

Today’s work on COVID-19 is not unlike the world’s largest collaborative biological endeavor two decades ago: The Human Genome Project, which mapped all the genes in the human body from a physical and functional perspective. In the summer of 2000, we reached an important milestone in this epic initiative with the announcement of the first rough draft of the genome. Several factors led to this success, including developments in the field of genomics and major advances in computing technology. While the project had just 6 percent of the genome sequenced in 1998, a rapid acceleration in sequencing capabilities allowed researchers to sequence 90 percent of the genome in less than two years.

The Human Genome Project opened the door to personalized medicine as we know it – from genetic testing to targeted cancer treatments. Its first step was gathering data to assemble what the genome looks like – just getting the data and mapping it. But personalized medicine is still very much in its youth; we are just scratching the surface of its ability to yield advanced treatments – and even cures – for some of the world’s most serious diseases and conditions. Part of the challenge in accelerating personalized medicine is the need for even greater volume and diversity of data.

That’s where initiatives like All of Us and Project Baseline come in. All of Us is a historic effort by the National Institutes of Health (NIH) to collect and study data from one million or more individuals in the United States. The team is building a diverse database that can inform thousands of studies on a variety of health conditions. Project Baseline, operated by Alphabet Inc.’s Verily, also seeks to gather health data on a diverse set of individuals to improve health for all. This creates more opportunities to know the risk factors for certain diseases, figure out which treatments work best for people of different backgrounds, and connect people with the right clinical studies for their needs.

Accelerate Precision Medicine

The All of Us precision medicine research program recently opened its data platform for beta testing, allowing researchers to use the initial dataset and offer feedback. The program’s Researcher Workbench will ultimately support thousands of studies on many different aspects of health and disease, leading to more personalized treatments and prevention strategies going forward, according to NIH.

This dataset and research tools provide a significant opportunity to propel the real-world applications of personalized medicine and population health to new levels at a much-increased velocity. Although providers will not be leveraging the data directly, they will be using the therapies supported by clinical tests and research derived from All of Us. Additionally, dozens of regional medical centers and community health centers serve as the direct point of access for program volunteers who choose to share their health data. Providers across the continuum of care should engage their patients in a discussion about participating in the project, discussing the benefits of sharing their data and how their participation could ultimately save lives in the very near future.

And yet even with this momentum, much work needs to be done before we see comprehensive results from precision medicine. Researchers must put what is being created with projects like All of Us to work to improve the accuracy of their algorithms and to remove the typical barriers to entry associated with needing a large dataset that spans many subjects and is without unintended bias. It is this research that will power the clinical trials and ultimately translate into personalized testing and therapies.

Lay the Foundation for Insight

Healthcare organizations interested in leveraging genomics and personalized medicine for research and clinical care often face the challenge of data silos and performance issues originating from the underlying infrastructure. To solve this, chief data officers and chief medical information officers need to consider their overall data management strategy to ensure it has a holistic approach – starting at the bottom tier of how and where clinical data is stored to support care delivery, making sure the data that is consented to be used for research can be easily de-identified and stored centrally for research initiatives; that this data repository can be accessed by appropriate compute capabilities to develop new algorithms and improved “science”; and, finally, that there is a way to store the data generated within the pipeline to a sufficient level that if the underlying science improves, testing can be rerun without the original biological samples.

In addition to these challenges on the research side, there are very similar ones on the clinical side, too. Having a strategy that complements both the research and clinical areas within a health system is critical to maximizing success. This strategy must include the specifics of an infrastructure that enables a modern data experience. One that embraces simplicity, delivers insights at speed, provides appropriate performance and capacity for real-time analytics and long-term archiving, and supports continuous innovation.

Whether it’s using data from All of Us, or the work that is being done to combat COVID-19, organizations need to be data-ready in a way that allows them to plug in quickly, progress rapidly, and make a lasting impact on this most important journey. We’re well on the way but there are many, many miles ahead.

About Josh Gluck

Josh Gluck is Vice President of Global Healthcare Technology Strategy at Pure Storage where he is responsible for Pure’s healthcare solutions technology strategy, market development and thought leadership in healthcare. He is also an Adjunct Assistant Professor of Health Policy & Management of NYU’s Robert F. Wagner Graduate School of Public Service. He can be reached at jgluck@purestorage.com.