November 26, 2022

Celebration of human genome anniversary muted by slow progress

Still not much progress for human health

Reflections, both sanguine and sombre, on a
decade of research after the decoding of the human genome continue
in the science media. Back in 2000 President Bill Clinton and Prime Minister
Tony Blair held a press conference with Francis Collins and Craig Venter, who
headed the two teams working feverishly on the project. They looked forward to
“a new era of molecular medicine, an era that will bring new ways to prevent,
diagnose, treat and cure disease”.

But now, despite an explosion of new
information, that era seems even further away as scientists realise how complex
the genome is. It’s like building a particle accelerator without knowing
anything about the underlying theories of quantum mechanics, quantum
chromodynamics or relativity, a Princeton geneticist told Nature.

Has human health benefited from this
knowledge? In articles in Nature, both Collins and Venter say, “not much”. As Nature
points out
:

“But the complexity of post-genome biology
has dashed early hopes that this trickle of therapies would rapidly become a
flood. Witness the multitude of association studies that aimed to find
connections between common genetic variants and common diseases, with only
limited success, or the discovery that most cancers have their own unique
genetic characteristics, making widely applicable therapies hard to find.”

However, the promise alone, without the
achievement, still makes some observers giddy with excitement. Take The Economist.
In its editorial on the anniversary it declares that analysis of the genome
will “will do what philosophers have dreamed of, but none has yet accomplished:
show just what it is that makes Homo sapiens unique.” It will also solve the
“the age-old question of original sin” by showing how flexible and perfectible
human beings really are. Hmmm. Does anyone else think that this is above a
geneticist’s pay grade?   



Michael Cook
genetics
human genome