Wednesday, November 21, 2012

Thoughts on Collins' Language of Life

The Language of Life was one of the best-written books I've read on personal genomics and the future of genetic medicine. It is written by Francis Collins, an obvious pioneer in the field, who now has a very  influential position in American science. The book gives an overview of many of the important genomic advances through Collins' eyes, giving a personal touch on the science. It is very interesting how Collins describes how he has subjected himself to various personal genomic tests and he explains in simple language what they meant to him. In particular, Collins relates many examples of where genetic knowledge is powerful in terms of individual people's livelihood. For instance, he tells the story a woman finding out that her family was afflicted by long Qt interval, which causes sudden death and the way they tried to watch for this (eg home defibrillator) . He tells how genomics is redefining ancestry with a story about a prominent individual that thought he was black but didn't turn out to have much African DNA. There is one small sloppiness that I uncovered in the book: Collin's saying that John Nash won a Nobel for mathematics. (He actually won the prize in economics.)

Some other tidbits I found interesting:

* He urges us to compile our family history, which is pretty good poor man's surrogate for the genome. He mentions a website where hundreds of thousands have done this. Potentially, this is very powerful information (e.g. a history of heart disease in the family raises one's risk by a factor of two).

* Collins begins by discussing many classic genetic diseases including CF, Tay-Sachs, and sickle cell. He focuses on positive messages about how people are overcoming these -- e.g. CF twins and how the incidence of Tay-Sachs has plummeted now that there's screening in the Jewish population.

* Collins talks about the cost of doing GWAS in '03 with 1000 cases and 1000 controls. He pegs this at ~$10B and talks about how it dramatically declined to ~$1M in '07 due principally to DNA chips and HapMap. In particular, Collins talks about how the finding the AMD (Mac. Degeneration) gene by was a major showcase of the power of HapMap.

* Collins provides moving stories of drugs that appear to kill certain cancers in relation to their genetic makeup -- in particular, Gleevec and Iressa. The former targets the unique fusion protein formed in CML. The later targets a particular EGF beta variant found in 10% of lung cancers .
The Language of Life: DNA and the Revolution in Personalized Medicine
Francis S. Collins
My tag: langlife0mg
Review is on Amazon: