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What is personalized medicine?

Would your teenaged son buy the same clothes as his grandmother? Probably not. But when they
get sick, theyre likely receive just about the same treatment and drug choices. And so will
everyone else. Thats because even the worlds best scientists and doctors have limited
knowledge of how different people respond to different treatments. The result is a "one size fits
all" approach to medicine.
Thats changing. Personalized medicine is moving us closer to more precise, predictable, and
powerful medicinecustomized for the individual patient. Our growing understanding of
genetics is allowing us to provide better diagnoses, safer drug prescribing, and more effective
treatment of the diseases and conditions that have affected us throughout history.
Today, scientists and doctors are learning how to tailor health care to a persons unique genetic
makeup. Thats the idea behind personalized medicine.
The benefits of personalized medicine
Throughout history, the practice of medicine has largely been reactive. Even today, we have to wait until
the onset of diseases and then try to treat or cure them. And because we dont fully understand the
genetic and environmental factors that cause major diseases such as cancer, Alzheimers and diabetes,
our efforts to treat them are often imprecise, unpredictable and ineffective.
In addition, the drugs and treatments we devise are tested on broad populations and are prescribed
using statistical averages. For example, on average, any given prescription drug now on the market only
works for half of those who take it. Among cancer patients, the rate of ineffectiveness jumps to 75
percent. Anti-depressants are effective in only 62 percent of those who take them.
Personalized medicine is beginning to transform the practice of medicine. It is allowing health care
providers to:
Shift the emphasis in medicine from reaction to prevention
Predict susceptibility to disease, improve disease detection, preempt disease progression
Customize disease-prevention strategies
Prescribe more effective drugs and avoid prescribing drugs with predictable side effects
Reduce the time, cost, and failure rate of pharmaceutical clinical trials, and
Eliminate trial-and-error inefficiencies that inflate health care costs and undermine patient care
Personalized medicine means that one day, doctors and genetic counselors will be able to craft a lifelong
health maintenance strategy tailored to a persons unique genetic constitution. It will be possible to
predict susceptibility to diseases and to prevent, delay or mitigate those diseases with precisely chosen
medicines, therapies and customized lifestyle advice.
Current applications of personalized medicine
While it may be decades before we see the full benefits of personalized medicine, initial benefits
are already here. For example, genetic analysis of patients dealing with blood clots, colorectal
cancer, and breast cancer are driving treatment advantages that, until recently, were impossible:
Blood clots. Before the availability of genome-based molecular screening, the dosing of
Warfarin, which is prescribed 21 million times a year, was a dangerous game in which too little
of the drug could trigger more clots and too much could lead to excessive bleeding.
Since 2007, the U.S. Food and Drug Administration has recommended genotyping for all
patients being assessed for therapy involving Warfarin. Genotyping allows prescription of drug
therapy regimens only to individuals expected to benefit from that specific drug at that specific
Colorectal cancer. Metastatic colorectal cancer kills 50,000 Americans every year, more lives
than are lost to breast cancer and AIDS combined. Among the drugs most frequently used in
treating colon cancer is cetuximab (sold as Erbitux by Bristol-Myers Squibb).
For colon cancer patients, the biomarker that predicts how a tumor will respond to certain drugs
is a protein encoded by the KRAS gene, which can be now be determined through a simple test.
Because cetuximab is effective only in colon cancer patients with normal KRAS protein,
treatment with the drug can be withheld from the 40 percent of patients for whom it would prove
ineffective. Alternative therapies can be pursued immediately instead.
Breast Cancer. Just as molecular diagnostic testing of tumors determines which colon cancer
patients are most likely to benefit from drug therapy using cetuximab, women with breast tumors
can be screened to determine which receptors, if any, their tumor cells contain.
For example, the cells of the highly aggressive "triple-negative" breast cancer have no estrogen,
progesterone, or human epidermal growth factor receptors, which are essential to the efficacy of
current anti-breast cancer therapies. The application of personalized medicine eliminates both the
considerable expense and precious time of trial-and-error treatments and helps clinicians to
determine quickly which breast cancer therapies are most likely to succeed.
The societal impact of personalized medicine
Along with many potential benefits, personalized medicine brings with it legal and ethical
questions that we must answer as a society:
Who should have access to a persons genetic profile? Employers? The government? Life
insurance companies? Health insurers?
How will we protect genetic privacy and prevent genetic discrimination in the workplace
and in our health care?
And how will we as consumers use genetic information to our benefit?
Questions like these loom large as the genomic revolution accelerates. Lawmakers, scientists and
health advocacy groups have spent more than a decade urging federal legislation to prevent
genetic discrimination. In 2008 Congress overwhelmingly approved the Genetic Information
Nondiscrimination Act (GINA), and President Bush signed it into law. Many states have
additional laws in place.
The Jackson Laboratory is committed to giving policy makers, legislators, ethicists, educators
and consumers the information they need to address the ramifications of personalized medicine
and to protect against genetic discrimination in matters of health insurance and employment.
Related technology
Less than a decade ago, the Human Genome Project gave us the complete sequence of the human
genome. It cost about $3 billion and took more than ten years to complete. Today, research and
technology are driving the progress needed to make personalized medicine accessible to all.
Scientists can now sequence a human genome in about a week, at a cost of $10,000. As both the
cost and time involved continue to plunge, it may soon be possible to sequence genomes in hours
for $1,000.
Faster, cheaper DNA sequencing allows scientists to hunt for the genetic variations responsible
for many diseases and conditions. Whole-genome analysis will provide doctors with more and
more ways to apply personalized medicine in the clinic. Through its contributions to the Mouse
Genome Informatics (MGI) database and other essential global resources, The Jackson
Laboratory plays a critical role in using technology to realize the promise of personalized