February 9, 2026
Since my earliest days as a physician scientist, I have had a front row seat to the genomics revolution. In fact, the term “genomics” was coined in 1987, the year I graduated from medical and graduate school. So, it feels quite fitting that I now find myself working at Illumina—the company most associated with the development of revolutionary genomic technologies.
I wish I could say that my career journey has reflected a master plan that I formulated earlier in my life, but that is hardly the case. I earned a PhD in cell biology at Washington University in St. Louis. Normally, I would have gone elsewhere for my medical residency and postdoctoral training, but my wife was still a medical student at Washington University, so we stayed in St. Louis. Looking to expand my scientific skills beyond cell biology, I met with Maynard Olson, a yeast geneticist but also a visionary for the new field of genomics, to discuss the possibility of doing postdoctoral research in his laboratory. Our first meeting lasted nearly three hours because I quickly got hooked by his prescient vision, including his nascent ideas of how genomics might one day improve the practice of medicine.
Maynard gave me tremendous autonomy in his laboratory—he even insisted that I present and defend the grant we wrote to become one of the first genome centers working on the Human Genome Project. Fortunately, the grant got funded, and Maynard immediately told me to lead the proposed project, which involved constructing a physical map of human chromosome 7. It was the start of my beginning-to-end participation in the Human Genome Project. Back then, we all had a vague sense that our work would eventually have a profound impact on human health, but we were bewildered by the details about how or when.
Looking back on the Human Genome Project, it is amazing to consider what the genomics community has accomplished. When my group was mapping human chromosome 7, our primary tools were Sanger DNA sequencing and the polymerase chain reaction (PCR). It felt groundbreaking at the time, but in reality it was all painfully slow by today’s standards. At that time, sequencing a single gene might take days to weeks. Now, sequencing an entire human genome can be done in a few hours.
The Human Genome Project ended in 2003, with the cost of generating that first human genome sequence being roughly $1 billion. We were justifiably proud of the achievement, but we immediately recognized that the path to bringing genomics into medicine would require a massive reduction in the cost of genome sequencing. My pathology training helped me to realize that, if we could get the price of sequencing a human genome down to around $1,000, then it would become practical for genome sequencing to become a routine clinical tool. But in 2003, a $1,000 human genome sequence seemed like science fiction.
Hitting the accelerator
I began my ~31-year career at the National Human Genome Research Institute (NHGRI) in 1994, and, in late 2009, I became the NHGRI Director. Once again, my timing was (inadvertently) on point. Genomic medicine seemed within reach, and I wanted to ensure the institute supported the necessary research to help make it a reality.
In my application to become the NHGRI Director, I specifically said: “It is time to not only point the ship towards genomic medicine, but also to begin to hit the accelerator.” Many different things would be needed, among them the $1,000 human genome sequence.
The $1,000 genome became a reality faster than I and most others ever envisioned. This quickly allowed genomics researchers to catalog millions and millions of genomic variants that exist in the human population and to begin the long journey of understanding how they influence human health.
These advances soon accelerated the ability of researchers to identify the genes underlying rare genetic diseases. Progress has been stunning. When the Human Genome Project began in 1990, there were only 61 rare human genetic diseases for which the mutated gene was known, but today that number is over 6,000. Similar progress has been made in cancer genomics, and non-invasive prenatal genetic testing has become mainstream in obstetrics. Meanwhile, these examples represent just the tip of the iceberg of anticipated advances in genomic medicine.
Throughout the Human Genome Project and even in 2003 when the project ended, I thought genomic medicine would take many decades to be realized. To see these advances already occur during my professional career is truly amazing.
In the first act of a revolution
Now, as Illumina’s Chief Medical Officer, my responsibilities are a logical extension of the work that I did at the institute. I am committed to using genomics to improve the human condition.
This is a particularly exciting moment in time. Just as we saw genome sequencing become faster and cheaper, we are now witnessing other critical advances. New techniques are allowing users to do their work without sample prep, which means the barriers to genome analysis are even lower. New applications are moving us beyond genome sequence data and into the generation of other omics data.
Faster, simpler, and cheaper generation of genomic and other omic data will translate into improved access for people around the world. We can see on the horizon the time when every infant will have their genome sequenced shortly after birth—providing baseline health information that will pay dividends throughout their lives.
I often remind myself that I am fortunate to be a leader in a field that did not even exist when I earned my two doctoral degrees. This realization vividly illustrates the importance of being a lifelong learner, which makes me excited to learn about areas such as proteomics, transcriptomics, and AI. We are only in the first act of the clinical omics revolution, and I am profoundly excited to see what advances emerge next.
