I can’t help but thinking that the results of ENCODE and perhaps the recent analysis of the human biome in the long run will turn out to be much, much more significant than the sequencing of the human genome a few years back, because it will shed light on the processes downstream from the genes themselves like gene regulation that actually lead to disease, and differences between humans more generally.
I wonder if the following analogy between the body and a computer would be appropriate: the genes that code for proteins are sort of like a microprocessor that provides fundamental capabilities, but the rest of the DNA that control when genes are expressed and also manage RNA, are like the operating system and software on top that actually govern the body’s operations on a day to day basis, and are responsible when things go badly wrong. I wish ENCODE and the biome sequencing had received as much attention as the original sequencing of the geno
I also can’t help but wonder if as evidence on gene regulation, RNA activity, the biome, and other processes downstream from genes piles up, it may finally drive a nail in the coffin of the naively reductionist genetic determinism that was so popular a decade or two ago in the run-up to the sequencing of the human genome. Since the completion of the sequencing, it seems like the mutations that have been located that have clinical significance either tend to be very low frequency with very strong effects, or in some cases, higher frequency but with relatively weak effects. We certainly haven’t seen the explosion in understanding of complex outcomes like personality, cancer or chronic disease that glib optimists predicted a decade or two ago. I suspect that this is simply because most of what ails us isn’t in the genes that code for proteins, but rather in other sections of DNA that control gene expression and RNA activity, whose activities may be subject to environmental influences.