Personalized Medicine--The Framework

In the last entry, I touched on the two main hot topics of personalized heath care, one of which being personalized medicine enabled by the breakthrough of human genome project and whole genome sequencing. We know that customized medicine could tailor to individuals of their specific diseases on genomic basis, and thus cater to personal needs with more accurate efficacy. But how is this achieved? What is the systematic change personalized medicine poses on the whole disease managment process?  How technology positions as vital facilitators in each of these changing processes?  In this week’s post, I will try to answer these questions and hopefully give a broad picture of main issues around personalized medicine.

According to Personal Medicine Coalition (PMC), by using molecular analysis to achieve optimum medical outcomes in the management of a patient’s disease or disease predisposition, personalized medicine promises to introduce a new standard of healthcare, which not only involves progress of medicine efficacy but also revolutionize medical care from reactive to efficient and preventive stage. This is achieved through major changes in the process of disease treatment.

Here is a diagram showing the old paradigm of disease treatment. Under this pattern, doctors first start from diagnosing patients’ existing diseases revealed by certain symptoms. Based on the diagnosis, doctors provide prescriptions consisting selected drugs to patients, the practice of which usually relies on doctors’ experience and statistics of drug clinical trials. With complying doctors’ prescriptions, patients either improve their condition or don’t get effective treatment from the prescript medicine. The main reason causing the latter condition is that the efficacies of major drugs are always proved by the mass statistics, which are not necessary applied to each individual case. In fact, it’s almost impossible to find a drug 100% effect to every patient due to our born uniqueness of DNA and possible unique source of our disease. Since treatment time has missed by complying ineffective drugs, the disease severity therefore escalates. Patients then go to doctors for re-prescription, and switch to drugs that may not be effective again. Unfortunately, this whole process could goes to several times till effective drugs is complied, with much time consumed and severity of disease climb to unnecessary magnitude. The drawbacks of this reactive medical care is quite obvious, foremost are cost-ineffectiveness and possible missing of optimal treatment opportunity.

And here is the new paradigm when personalized medicine methodology is introduced into the diagnosis and medical care process. Two key point of avoiding unnecessary process of switching ineffective drugs is (1) to deliver customized regime and drugs to individual patients with specific disease; and (2) intervene into the health condition diagnosis before symptoms emerge to design and  . The second ideal condition involves the idea that preventative measures could be taken if predisposition screening is conducted and likelihood of having certain disease is detected before it actually forms. The first one focus on the idea of delivering the right drug aiming to deal with the right roots of disease, so that the repeated switching medicine process is waved and the efficiency and cost-effectiveness is greatly improved. Both conditions increase the possibility of successfully monitoring patient’s medical treatment with more accurate and tailored information at hand. This thus brings the whole health diagnosis system to a reactive treating level to a comprehensive healthcare management level.

How could we achieve such efficient and proactive healthcare management goal? The combination of scientific breakthrough and technology become the centerpiece of the solution. Human genomic sequencing, which has been mentioned several times, is the science foundation of the whole idea of personalized medicine. Provided with whole genome sequence interpretation, doctors could conduct better accurate diagnosis to patient and even intervene at the emerging or early stage of disease formation. Such sequencing and interpretation technology is already at access to public. With its core such technology as assay chemistries, systems and software, can support SNP genotyping, gene expression profiling, which eccentrically decode people’s genomics prototyping. And more importantly, according to the bidding of Illumina, the price to have an individual genome analyzed is falling rapidly from $300,000 to $1,000 within a couple of years, which makes it much more affordable than ever before. Gene interpretation is also feasible now, the most successful business model establishing by Knome formed by a group of Harvard researchers. With those two cohesive and powerful tools at disposal, doctors and clinicians are empowered in a dramatical way that the above comprehensive healthcare managment system is no longer to be dreams.

Refference:
1. Edward Abrahams, Ph.D., Personalized Medicine: The Changing Landscape of Healthcare, American Association of Clinical Chemistry Annual Meeting, July 14th, 2007.
2. Personalized Medicine Coalition: http://www.personalizedmedicinecoalition.org/
3. Illumina, Inc. http://www.illumina.com/index.ilmn
4. Knome, Inc.http://www.knome.com/