Personalized medicine comes one step closer

Researchers from the Stanford University School of Medicine have given us a glimpse of what the future of healthcare could look like.



Researchers from the Stanford University School of Medicine have given us a glimpse of what the future of healthcare could look like.

We have had human genome sequences for a while now, but it has taken some time to overcome the information analysis challenges. Euan Ashley and colleagues published a study in The Lancet last week assessing the potential of a patients genome in a clinical setting to find out what a physician could do for a patient with a specific genetic profile. This was only the fifth human genome ever sequenced, and the first time that this type of study was done.

The field of genomics and genetics has generated a vast amount of information to date, and the researchers tested the integration of these results with the genome and medical history of a specific patient. They were able to test disease risk and link it to the patients medical history. They also tested pharmacogenomics, the genetic predisposition of an individual to react to a drug treatment, information that can tell a physician if a patient will benefit from a particular drug and if the patient is likely to experience adverse effects.

The patient, who had a family history of vascular disease and early sudden death, fell just short of the regular criteria for a recommendation of a cholesterol-lowering drug. But his genome revealed that he had increased genetic risk for coronary artery disease. The pharmacogenomic study revealed his treatment options based on his genetic make-up: He would probably respond well to lipid-lowering therapy and to low initial dosing requirements for Warfarin, a popular and effective drug for preventing thrombosis and embolism. He had a low risk of side effects. This could be suggested as a very good treatment option, if prescription of drugs became necessary. Under the current system, this could have taken a month to determine.

So, is this what the future of healthcare will look like?

Probably, but there are still a few challenges ahead, not only from a technological point of view but also from an ethical point of view. The technical challenges focus on automated annotation with extremely high accuracy and ways to bringing down the cost below $1000. Scientists are working around the clock to achieve this and it is only a question of time until we get there. But the ethical question is far greater and something that each and everyone of us will face! How would you cope with 2.5 million reference points about your health, which could tell you about hundreds of disease risks and medications that will have no effect? Something like genetic psychological counseling will have to be introduced!

Undoubtedly, the transition to personalized medicine will change the way healthcare is delivered.