The triumph of genomic medicine is just beginning

The early triumphs are being seen with rare inherited diseases—which together afflict more than 25 million Americans. Genomic strategies, driven by the plummeting cost of genome sequencing, have led to the identification of the genomic defects for more than 5,000 of the inherited diseases caused by mutations in a protein-encoding gene. An intense four-year, more than $400 million, research program, the Centers for Mendelian Genomics, is working to find the genomic cause of the remaining 2,000–4,000 rare genetic diseases.

We may be predisposed to certain diseases because of our genes, but it is not only genes that determine our health. It is also our lifestyle, habits, and environment. These may cause genes to be switched on and off and even altered. There is also still a lot to be understood about what was once-called “junk DNA” — which is now known to contain important control mechanisms over the bits we recognize as genes. And then there is the microbiome — an ecosystem of microorganisms that live on and in the human body. So a lot more data are needed and much more research and analysis still needs to be done.

The good news is that other technologies are also rapidly progressing which will facilitate this. With the cost of genome sequencing dropping to affordable levels, there will soon be genome data available for millions of people. Additionally, the smartphones we carry are capturing information about our lifestyle and habits, location, and activity levels. Wearable medical devices, which many companies are developing, will record our vital signs such as temperature, blood oxygenation, and heart rhythm. When you combine these data, you gain the ability to rapidly analyze the correlation between our genome, habits, and disease—exactly what is needed to develop individualized treatments for disease.

This is the same type of data analysis that is done of social media streams and shopping and online-browsing data by Silicon Valley start-ups and marketers. In other words, we human beings have become data and software—and entrepreneurs can now do the work of pharmaceutical companies and medical research labs.

Indeed, one entrepreneur has declared his intention to do just that. Craig Venter, who used Human Genome Project data to compete with the project in sequencing the first human genome, 13 years ago, recently announced that he was starting a company called Human Longevity. This will focus on extending the healthy human lifespan by using stem cell therapies and genomics to tackle the diseases of aging. It plans to sequence 40,000, increasing to 100,000, human genomes per year. It will also sequence the microbiome of these patients.

No doubt many other start-ups will enter this field and accelerate the rate of medical breakthroughs. This means that medicine will, within a few years, start advancing at the same pace as the Internet and software. We will see a revolution in health care.

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