Historians might refer to our current era as the Age of DNA Sequencing. There is an incredible technological revolution going on that is radically reducing the cost of DNA sequencing. The Human Genome Project, which determined the first complete Human DNA sequence, was completed about a decade ago, at a cost of over three billion dollars. It was a remarkable achievement, to be ranked with the likes of landing on the moon, and with much greater long term impact on our well being.
Yes, there was a bit too much hype, and some are disappointed that we haven’t seen more diseases cured. But there is no denying that we have set out on an incredible journey that will, in time, completely change the nature of medicine. Indeed, it is even going to change the fabric of the Human species itself.
The first thing we discovered is that people only have about 25,000 genes, a number about five fold smaller than previously thought. It is amazing to think that you can genetically program all of the complexities of a person starting with only 25,000 genes. The Human DNA sequence also allowed us to map thousands of mutations to specific genetic diseases. For many diseases this work provided the first clue as to the genetic basis, and put us on the path to finding a cure.
One important offshoot of the DNA sequencing work is the field of personalized medicine. Our genetic differences make us respond differently to medicines. A drug that might cure one patient could kill another. Already we find certain cancer treatments are guided by the genetic basis of the individual’s disease.
Another result is the appearance of several companies that offer individual genetic analysis services. These companies, like 23and me, Pathway Genomics and Navigenics, all use a relatively simple “SNP Chip” technology that looks at thousands of bases, of the 3 billion total, that have been associated with specific interesting traits. The cost is generally a few hundred dollars, and the companies promise to provide “insight into your traits, from baldness to muscle performance. Discover risk factors for 97 diseases. Know your predicted response to drugs, from blood thinners to coffee. And uncover your ancestral origins.” https://www.23andme.com/.
But the real revolution is yet to come. The truth is that our current understanding of the genetic basis of most traits is fragmentary at best. We don’t really know which gene combinations define our features, such as appearance, intelligence, longevity, athletic performance and predisposition to disease. What we really need is the DNA sequences for lots of people, so we can then begin to relate their traits to their DNAs.
And this is why the current revolution in DNA sequencing technology is so important. While the first Human DNA sequence took many years to complete, at a cost of over three billion dollars, it is now possible to sequence a person’s DNA in a matter of weeks for a cost of a few thousand dollars. That is, the price has dropped about a million fold. And there is no end in sight. I was recently speaking with a representative of a company that makes the Ion Torrent DNA sequencing machine. It uses a modified computer chip to sequence DNA. He told me that the goal of his company is to increase the capacity of the machine by a factor of ten every six months. This absolutely blows Moore’s law out of the water. Gordon Moore, one of the founders of Intel, stated in 1965 that the capacity of computer chips could be expected to double about every two years. Interestingly, the first person to have their DNA sequenced with the Ion Torrent machine was Gordon Moore.
In the near future, as the price continues to plummet, we will each of us have our DNAs completely sequenced. Our DNA sequence will be an important part of our medical record, helping guide lifestyle choices, and telling the doctor which diseases to be on the lookout for.
We will then have DNA sequences for millions of people, instead of the thousands that we have today. The DNA sequencing revolution is going to allow us to crack the code, and to figure out which sequences are responsible for which traits. As we relate the sequences of all of these people to their traits we will be able to connect the dots, and learn the genetic equations that define health, longevity and intelligence.
And, as we combine the DNA sequencing revolution with concurrent revolutions ongoing in the fields of genetic engineering and stem cells, the Human race will for the first time be able to take conscious control of its own genetic destiny.
It could well mean the end of the Human race as we know it, but perhaps the beginning of something better.
About the Author: Steve Potter, PhD, is a Professor of Pediatrics, in the Division of Developmental Biology, at Children’s Hospital Medical Center in Cincinnati. He has authored Designer Genes: A New Era in the Evolution of Man, published by Random House 2010 http://www.amazon.com/Designer-Genes-New-Era-Evolution/dp/140006905X/ref=sr_1_1?s=books&ie=UTF8&qid=1310842010&sr=1-1. In addition he has written over one hundred science papers, and co-authored the third edition of the medical school textbook, Larsen’s Human Embryology.
Good article and well explained. Unfortunately, you for got to mention that genetic engineering and given our current state of intervening medical technology – we are actually devolving from an evolutionary survival standpoint. Currently, we have very few of the former human evolutionary selection factors helping to eliminate genetic weaknesses from the human gene pool. We already see a decline in human eyesight as a result of more and more humans surviving with weak eyesight – a fatal weakness in our distant past. Thanks to antibiotics we have humans surviving to reproductive age whose less than peak immune system would have prevented them from surviving even a hundred years ago. We are likely seeing a rise in diseases that the average human immune system would have successfully fought off a few generations ago, but which might be fatal today without modern medical intervention. Without genetic engineering to strengthen and improve our gene pool by accomplishing what natural selection did previously, our survival as a species is imperiled by our medical intervention and interruption of natural selection processes. We have no choice, but to develop genetic optimization as rapidly as possible.
Evolution of the human species has not stopped, it simply is no longer determined by the physical fitness of individuals. You’re correct that individuals who would of perished in the past are now able to survive and reproduce, but I wouldn’t agree that this is a negative development. The future of human evolution will be shaped more by intangible human attributes, most of which we are probably yet to understand. Natural selection, while efficient, no longer plays a significant role in human evolution.
Thanks for your comments. Both Dylan and Durwood make valid points. Yes, modern medicine allows people with serious genetic issues to now survive and reproduce, while they might have perished at an early age in the past. And again yes, the attributes needed for survival are changing.
My real point, however, is that we are on the verge of being able to choose the genes, and traits, of our children. Indeed, before long it will be very possible to create designer genes babies that carry a set of desired features, such as high intelligence, good looks, extreme health, longevity and athletic ability. And the next generation, smarter than us, and equipped with even better understanding of DNA-trait relationships, and better genetic engineering tools, will do an even better job of creating the subsequent generation. A self-accelerating evolution, referred to as eveloce, of Humanity will ensue.
Nice article. Don’t forget the “Epigenome” however, basically our environment (like diet and nutrition) acting directly on DNA by methylation (and other) effects. This can cause genes to turn-on/turn-off at will, and also can be passed on through immediate generations (ie Dutch Hunger Winter of 1944 babies for generations had increased obesity, etc.). Evolution right in front of us!
I hate my life but at least this makes it barebale.