Pharmacogenomics, pharmacogenetics, precision medicine, personalized medicine : terms often used interchangeably to talk about the tailoring of treatment to individual patients based on their uniqueness. Actually, pharmacogenomics/genetics uses the genetic profile of the patient whereas precision/personalized medicine looks at other probable causes as well, such as environmental factors, lifestyle behavior, physiology, epigenetic data, the microbiota.
The idea of precision medicine is that different individuals are subject to different diseases and react differently to medical treatments. Hence, each person should adopt a different lifestyle in order to prevent illness and should get tailored treatments should they become sick.
Part of the challenge resides in the amount data that need be first collected and then processed, in order to achieve meaningful and efficient tailoring of medical treatment. The genome of a single individual has 3 billion base pairs and 20K genes; its microbiota consists of more microorganisms than it has human cells; environmental factors, lifestyle behaviors and the like are virtually unlimited. In short, pertinent data can rapidly grow to astronomical proportions. And the rate at which data is produced will soon outweigh the rate of progress in computing and big data technology. Moreover, this data needs to be exchanged amongst healthcare practitioners, and it needs to do so securely.
Another part of the challenge is the science itself. On the genetic front, there still exists significant gaps in the sequencing of the human genome, and only a low fraction of known disease causing genes lie in high confidence regions i.e. “easily sequencable” chromosome regions. And on the mental illness side of the story, so little is known about brain functions that even a fully decode genome would be of little help.
Even as a means of prevention, pharmacogenomics has work to do : research shows that even when informed about genetic predisposition to disease, people a not likely to modify their health behavior.
In cases for which precision medicine does work, it remains a high-tech, expensive business. To the point that it is advocated by some that it is not worth it. Obviously, this is not the dominating opinion: President Obama recently celebrated the first year of his Precision Medicine Initiative, and Roche is investing up to $1B in a precision medicine company, to name a few examples.
On a lighter note, if precision medicine turn out not to deliver on its promises, it will at least be useful for singles to find love, as GenePartner.com claims. And once you found your match, Orion Health will tell you if he or she will be faithful to you.
You can read further about precision medicine, its ethical implications, and market predictions .
As always, comments, questions, feedback are welcome.