The Human Genome - A Personal Perspective

Jacksonville, Florida June 26, 2000 -- Now that the race to sequence the human genome is almost over, we want to add a few words to the many thousands that have already been penned or uttered about this remarkable feat, since we have something of a vested interest in it.

Back some years ago we started running -- maybe jogging is more like it -- in the genomics race. That was well before it became a popular pursuit. The story of how we entered the fray may say something about biomedical research and the funding of it in the United States.

Applying for a grant

We applied for a research grant. That was and still is customary. You propose the project and ask for money. Well, we proposed we would trace the passage of a chromosome through a family, a chromosome that you could easily distinguish though the microscope, thanks to a special marking on it called a fragile site, a spot where the chromosome is weak and breaks easily. And at the same time we would follow the transmission of genes, the invisible instructions on chromosomes, through the same family. Then we would link one of the genes to the chromosome and so assign (map) that gene to that chromosome and further we would map the gene in close proximity to the fragile site.

To fund this research we asked for the princely sum of $20,000 for the first year, with a 5% rise in each of the next two years ("for an increase in the cost of living"), or around $63,000 over a three-year period. We submitted this research grant request to a federal funding agency.

"Approved" but...

After several months we heard the fate of our grant application. The federal agency "approved" it but informed us that, sadly, they could not fund it. The reason -- it was an imaginative research proposal but there was, unfortunately, "no evidence" that we could even come close to succeeding in doing what we had proposed (since no one had done it before, or had tried to do it).