Emily Galloway
Emily Galloway
The Wannabe Scientist

Viputheshwar Sitaraman
Founder, Blogger
Draw Science.

What if the majority of patients could walk into hospitals before they are sick rather than after they have suffered from disease symptoms? What if oncologists could be confident that each of their patients’ conditions will be improved after therapy? What if physicians could design unique treatments for patients? Soon, all this may be possible thanks to the combination of rapidly-advancing technology and a burgeoning, new medical philosophy:

Personalized medicine uses genetic profiling to create individualized prevention or treatment plans for patients. The idea of personalized medicine is not new, but now scientists finally have the technological capabilities to make it possible. The cost of sequencing a whole genome has plummeted from $100-300 million in 2001 to about $5,000 in 2011 (1). Once the price has dropped to under $1,000, scientists believe that whole-genomic sequencing can become a part of standard medical care. Then, physicians can design personalized treatments for patients based on reliable information and risk factors evident in their genomes.

However, the seemingly innocuous concept of sequencing people's genomes to improve medicine comes with tradeoffs: although it can significantly enhance preventive medicine and streamline drug treatments, personalized medicine also raises several concerns in terms of finance and liability, as well ethical issues with genome editing. In short, personalized medicine has its obvious benefits, but also some less obvious non-medical concerns that are nevertheless important.

A principle of personalized medicine is transitioning the focus from treating disease to preventing disease. Genetic and protein tests allow patients to know if they are at risk for a disease and take early action to prevent its development. Certain mutations of the BCRA1 and BCR2 genes indicate high risks of developing breast cancer (1). Now that these tests are available, women at risk can take action by getting frequent mammograms, which can increase the likelihood of catching cancer at an early stage. By switching the focus of medicine to prevention, less people will experience the financial, physical, and emotional pains of late-stage diseases.

Ineffective drugs are costly – both financially and physically. Studies have shown that “38 percent of depression patients, 50 percent of arthritis patients, 40 percent of asthma patients, and 43 percent of diabetic patients will not respond to initial treatment” (1). However, better understanding drug metabolism and genetic correlations may soon eradicate the practice of “trial-and-error diagnosis.” Patients will be able to receive drugs that were specifically chosen because they have been proven to work effectively in patients with similar genetic profiles. Also, physicians will be able to assign drug dosages based on each patient’s metabolism and genetic factors; this emerging field is called pharmacogenetics. Tests for biomarkers, proteins associated with certain diseases, will additionally allow physicians to more accurate diagnose and treat illnesses. These tests will make treatments more personalized and effective by increasing patient adherence to drugs and minimizing harmful reactions to drugs.

But these ideas are not just theoretical – physicians have begun to practice these techniques recently. Among several other mutation-specific drugs, Zelboraf™ more effectively treats melanoma patients who have the BRAF V600E gene mutation. The drug Ziagen® can cause fatal effects to a small percentage of HIV patients that have the HLA-B*5701 gene, but all patients that receive the drug are genetically testing beforehand, which saves countless lives (1).

People are questioning if and how insurance will cover genome sequencing and the multitude of new genetic and biomarker tests. Even if insurance will provide aid to pay for personalized therapies, millions of people do not have healthcare. How can access to personalized medicine be provided to everyone, or is this even an attainable goal? (4).

Physicians are already being involved in lawsuits claiming that patients should have been testing for a genetic predisposal to a disease. Soon, lawsuits will appear about physicians’ failure to perform genetic tests before prescribing medications. These issues introduce a new class of possible legal problems for doctors (3). Rules must be established to mitigate these disputes and protect physicians and patients.

Lastly, concerns over privacy, specifically genetic privacy, have arisen in conjunction with the advancement of personalized medicine. Protecting individuals’ health information is extremely important, but where is the line drawn for genetic information? Creating a database full of anonymous genetic profiles with treatment results could be a way to quickly spread genetic and drug breakthroughs and inform doctors about high-risk genes, but does this violate the privacy of individuals? Also, if a person is diagnosed with a genetic disease and his or her family members are recommended to get tested for said disease, does this infringe on the privacy of that person? (3). Several other difficult questions about privacy must also be addressed to organize personalized medicine.

There are benefits and risks involved in personalized medicine, but learning about the aspects of this practice is a step in the right direction. Physicians must have additional training in genetics before adopting a personalized medicine approach. More gene-specific drugs must be developed to better prevent and treat diseases. Lastly, people’s minds must be open to a new philosophy that could catapult us into a new era of medicine.

Got an idea? Tell me.



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