Is the genome a “blueprint for life?”

Not all genes, their mutations, and the conditions caused by those mutations are overwhelmingly complex. We’ve known for decades that sickle cell disease is caused by a specific nucleotide change at a specific position in the human adult beta globin gene, and we can predict the consequences to a patient with the disease to a high degree of accuracy. The fact that there are so many CRISPR trials underway now is testament to the clarity of our understanding of the target genes.

Yes, there’s a lot we don’t know about human genes. Some of that is because ethically we can’t do the experiments necessary to test hypotheses. But yeast, bacteria and viruses also have genes and we know a great deal about those genes and the pathways they subserve. This book seems to equate “gene” with “human gene.” The universe of genes and genetics is far larger than that. Indeed, many of the things we “know” about human genes are the result of studies in bacteria, yeast, flies and mice. While there are certainly differences, model organism genetics is better understood than would be suggested by the attached Nature link.

A better title for this Nature article would be “It’s time to admit that a blueprint isn’t the same as a functioning building.” But then people would just say “duh, of course, everybody knows that.”

Are genomes blueprints?