The NGS community has been talking about the $1000 genome as a holy grail (expect it in the second half of 2014), but on the way to this the exome is looking like it will become a cornerstone of modern medical research mainly because of the ease and costs of generating the data. The NIH launched the Undiagnosed Diseases Program in 2008 and in the first three years had sequenced around 250 exomes from case book of 1800 patients. One of the programs aims was to reduce the time taken to accurately diagnose patients, which for 15% of people was taking more than 5 years. The program attracted funding of $3.5 million a year (2010-2012) and has had some big successes. Read The NIH Undiagnosed Diseases Program: Lessons Learned to find out more.
Yesterday I read a great article on Forbes about Alexion Pharmaceutical's Soliris, used to treat paroxysmal nocturnal hemoglobinuria (PNH) and which costs $400,000 per patient per year (pppy)! The astonishingly high price of the drug is due to the small number of patients being treated, all of whom seem to essentially "get better". The drug cures their disease and could well be considered a magic bullet.
A side-affect of the above combination (expensive drugs for rare diseases) is a bill that could run to $trillions. Being able to diagnose patients, and at the same time possibly find a druggable target that might actually cure them creates a lure for pharma investment. The Forbes article presents the story of Soliris (Eculizumab). The article also presents a list of other expensive drugs, there are between 10 and 20 costing over $200,000 pppy.
Soliris $400,000 pppy: Alexion Pharmaceuticals drug for PNH with about 8000 patients in the US and total sales of around $300M.
Elaprase $375,000 pppy: Shore's drug for Hunter syndrome with about 500 patients in the US and total sales of around $350M
Naglazyme $365,000 pppy: BioMarin Pharmaceuticals treatment for a rare metabolic disorder affecting around 1000 people worldwide.
Cinryze $350,000 pppy: ViroPharmas's for hereditary angioedema.
Cerezyme $300,000 pppy: Sanofi's drug for Gaucher disease.
Kalydeco $294,000 pppy: Vertex Pharmaceuticals drug for cystic fibrosis patients with a specific mutation.
The NIH lists 6,000 diseases affecting less than 1% of the population, but that still adds up to a lot of people with disease and with the ability of exome sequencing to find causal mutations designing treatments becomes possible, and lucrative. Orphan drugs get special protection in the US and can sell without competition for seven years and get tax breaks, with profits like those seen above this incentivisation may not be required!
Today's $5000 genome just doesn't seem so expensive!