Over a year and half ago, I began writing up a business plan for this personalized, preventive medicine idea. At the time, there were only a handful of companies that were offering relatively large-scale DNA testing (e.g., 23 and Me). Since then, companies that provide this type of testing have began to “come out of the woodwork”. It’s hard to know exactly how many there are out there, but at present there must be over two dozen.
Granted, these are small, specific genetic tests, but the publicity for these is growing astronomically. For example, Angelina Jolie, a famous American actress, recently tested positive for a mutation in the brca1 gene – a mutation that drastically increases her chances of getting breast or ovarian cancer later in life. Her mother died of breast cancer at age 56. As a preventive measure, she chose to have a double mastectomy.
Currently, Illumina is the only company in the U.S. that provides full genome sequencing – and the cost continues to plummet. Right now it costs around $5,000 per full genome sequence. But, if the trend of the cost roughly halving every year continues, by the year 2015 the cost will be only $1,000. This isn’t bad, for a once-in-a-lifetime test with incalculable long-term benefits. Of course, there is also a cost associated with interpreting each person’s genomic sequence. Interpreting and maintaining a person’s whole genome sequence is significant, but as databases improve and computer technology advances, these costs will also drop precipitously.
With all of this in mind, it is time to incorporate genetic testing into everyday medicine – personalizing the health care experience, and providing a solid basis for the switch from reactionary to preventive medicine.