In an amazing turnaround, a concept that was once thought to be ridiculously impractical for the masses will soon be available to the masses. The once outrageous cost of sequencing the human genome, which fell from about US$100m in 2001 to US$30,000 in 2010, can now be done for nearly US$1,000.
Genomics is exploding. Major scientific breakthroughs in the field are happening regularly. Atypically, on February 28, 2014, The New England Journal of Medicine announced that analyzing fetal DNA in a pregnant woman’s blood was a more accurate and much less intrusive means of Down’s syndrome screening than long accepted methodology such as ultrasound imaging and blood tests. And just one week later, in the March 6, 2014, edition of the same journal there was a story detailing how human cells are being genetically engineered to make them resistant to the AIDS virus.
With Genome analysis already in use for the treatment of brain and breast cancers, the perspective of both scientists and medical experts is undergoing profound change. Suddenly cancer is being seen as 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,” according to Eric Green, director of the National Human Genome Research Institute, as reported in The Guardian.
At the turn of the millennium, scientists focused on using DNA-sequencing and computational technologies to interpret the genome and understand its biology. Now the same research is used to improve diagnostics and in the prescription of medicines. Soon doctors will be able to customize treatment for cancer and diseases like Huntingdon’s Chorea based on any individual’s specific personal genomic information.
The kind of rare inherited disease which affect over 25 million Americans – there are approximately 9,000 of them – have, after over four years of research, at the cost of over US$400m, been studied, and the Centers for Mendelian Genomics is working to find the genomic cause of the remaining 2,000–4,000 rare genetic diseases. It turns out that we may be predisposed to certain diseases because of our genes. Taken next to other factors, such as lifestyles, environment and habits, the behavior of our genes will alter.
The good news is that other technologies are also progressing in parallel. As genome sequencing costs less, genome data will be freely available for tens of millions of people. Even the smartphones we use can be turned into medical devices, which can read and record our vital signs such as temperature, blood oxygenation, and heart rhythm. In combination, such data can be used to correlate facts about our genomes, habits and disease, leading to the development of totally individualized treatment for every patient.
There are inherent dangers here, however. Human beings are becoming nothing but data and software. One hustling entrepreneur, Craig Venter, has been using Human Genome Project data to compete with the project in sequencing the first human genome. Venter’s company, Human Longevity is focused on extending the human lifespan by using stem cell therapies and genomics to tackle aging. It plans to sequence 40,000 to 100,00 human genomes per year.
The biggest questions concern the government. Will it need to keep investing in the types of basic research that first led to genome sequencing and the Internet? Technology takes time. Meanwhile Congress, obsessed with cuts to help lower the national deficit, has reduced research funding by 25%.