“A Decade Later, Genetic Map Yields Few New Cures,” said a New York Times headline in June 2010. It declared the failure of the $3 billion Human Genome Project and claimed that medicine had seen none of the benefits that Bill Clinton had promised in announcing the first draft of the human-genome sequence in 2000. According to the article, geneticists were “almost back to square one in knowing where to look for the roots of common disease.”
The New York Times judged the project too soon.
The cost of sequencing a human genome had fallen from about $100 million in 2001 to $30,000 when the article was written; today it can be done for nearly $1,000. And the promise is coming true.
Hardly a week goes without the announcement of a major scientific breakthrough in genomics. The March 6 edition of The New England Journal of Medicine detailed how human cells can be genetically engineered to make them resistant to the virus that causes AIDS. A week earlier the journal published a finding that analyzing fetal DNA in a pregnant woman’s blood was a more accurate — and less intrusive — way of screening for Down syndrome and other chromosomal disorders than methods such as ultrasound imaging and blood tests.
Genome analysis is already being used to guide the treatment of cancers of the brain and the breast. Eric Green, director of the National Human Genome Research Institute, explains that cancer is essentially a genomic disease: “Instead of classifying cancers by the tissue where they are first detected — colon, breast or brain, doctors are beginning to categorize cancer by its genomic characteristics and select treatments based on the signature of different mutations. This approach promises to treat patients with the most effective medicines while minimizing undesirable side effects, especially when chemotherapy is unlikely to help.”
Green says that the end of the Human Genome Project was the starting point on the path to genomic medicine. At first, a decade ago, scientists focused on using DNA-sequencing and computational technologies to interpret the genome and understand its biology. Now they are using them to improve diagnostics, medicines, and clinical practice. He predicts that before long, doctors will tailor treatment for many diseases on the basis of an individual’s genomic information.
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.
The government shouldn’t step out of the ring, however. It needs to keep investing in the types of basic research that led to genome sequencing and the Internet itself. Such technologies often take decades to bear fruit and there are many disappointments and failures along the way. There is also still much more basic research to be done in genomics—that entrepreneurs can’t do. Yet, the National Institutes of Health, of which the National Human Genome Research Institute is one of 27 institutes and centers, has experienced a research-funding decline of about 25 percent (in purchasing power) since the completion of the Human Genome Project in 2003. This doesn’t make sense. We are finally on the verge of ridding humanity of the diseases that have plagued it. It is time to double down on, not walk away from a great investment.