Personalized Medicine:
More about this in the 'OMICS' section

Overview

Personalized Medicine is the concept that managing a patient's health should be based on the individual patient's specific characteristics, including age, gender, height/weight, diet, environment, etc. Recent developments in genetic testing allow the development of "Genomic Personalized Medicine" and "Predictive Medicine", which is the combination of comprehensive genetic testing with proactive, personalized preventive medicine.

Personalized medicine is not solely about genomics. Personalized medicine is about you, the health consumer. Personalized medicine also allows your health care provider, such as your physician, to focus his/her attention on what makes you "you", instead of abiding by generalities.

Promise of Personalized Medicine

To date, much of the promise and pitfalls of personalized medicine remain untested. The study of genetic variation has proven to be much more complex than ever imagined. Advocates of personalized medicine have stressed its potential to:

Select optimal therapy and reduce "trial-and-error" Reduce adverse drug reactions Improve the selection of drug targets Increase patient compliance with therapy Reduce the time, cost, and failure rate of clinical trials Revive drugs that failed clinical trials in large groups and retest in correct subgroup Avoid withdrawal of marketed drugs Shift the emphasis in medicine from reaction to prevention and reduce the overall cost of healthcare.

Examples of genomic personalized cancer management include:

1. Testing for disease-causing mutations in the BRCA1 and BRCA2 genes, which are implicated in familial breast and ovarian cancer syndromes.

• Discovery of a disease-causing mutation in a family can inform "at-risk" individuals as to whether they are at higher risk for cancer and may prompt individualized prophylactic therapy including mastectomy and removal of the ovaries. This testing involves complicated personal decisions and is undertaken in the context of detailed genetic counseling.

2. Minimal residual disease (MRD) tests are used to quantify residual cancer, enabling detection of tumor markers before physical signs and symptoms return. This assists physicians in making clinical decisions sooner than previously possible.

3. Targeted therapy is the use of medications designed to target aberrant molecular pathways in a subset of patients with a given cancer type. For example,

• Herceptin is used in the treatment of women with breast cancer in which HER2 is over expressed.


• Tyrosine kinase inhibitors such as Gleevec have been developed to treat chronic myeloid leukemia (CML), in which the BCR-ABL fusion gene (the product of a reciprocal translocation between chromosome 9 and chromosome 22) is present in >95% of cases.

These medications are a prime example of "rational drug design" based on knowledge of disease pathophysiology.

Human DNA may be 99.9% similar across the population but just like Zebras, that remaining .1% allows us to each display our individual "stripe".