Climbing the now-mapped double helix

Geneticist Francis Collins, MD, PhD, wearing a double helix tie, told a story of a man who drops his keys in a dark parking lot, but only looks under one floodlight. It’s not where he dropped his keys, but it’s the only place he can see.

That used to be genetics in medicine: we knew the DNA sequence was large (3 billion letters) and had the answers, but that was all. Now, though, with the genome properly sequenced (Collins, the former head of the Human Genome Project, completed the project in 2003) and over 180 disease-specific snippits discovered, the whole parking lot is becoming awash in light.

Collins gave three examples of disease where work on treatments is already progressing. In cystic fibrosis, a field Collins does much work in, treatments that in small-scale tests showed dramatic improvements are now in Phase IIa trials. For Marfan disease as well, work is progressing on treating the disease itself, not merely its symptoms. And in the rare but fatal progeria, mouse trial shave shown incredible gains, even when not treated until six months of age.

The future of genomics will also include personalized medicine. The cost of sequencing the first genome was $300 million: now, it can be done for a mere $40,000. Individual genetic sequences can be screened for a few hundred dollars – and ordered direct-to-consumer, with no physician involvement, often for conditions for which there is no treatment.

“Almost every disease has some genetic connection,” Collins said, excluding trauma. Seeing behind the curtain of skin and bones will eventually let drug regimens be personalized, let people receive preventative therapy for genetically encoded diseases that haven’t manifested yet, and even do a genome map as part of every newborn screening. That day’s not here, but it’ll be here soon.