What is Pharmacogenetics?
According to the U.S. National Library of Medicine Pharmacogenetics is “The study of how genes affect a persons response to drugs.” Genes are commonly referred to the instructions, which are written in DNA, that tell the body what to do. Although the idea of personalized medicine is now starting to gain momentum, it is not a new concept. In the late 1800’s the “great variability among individuals” was noted by Sir William Osler, a Canadian physician (Scott, Personalizing Medicine with Clinical Pharmacogenetics). Although humans have “great variability,” the majority of the population share up to 99.9% of DNA according to spineuniverse.com. However, that .1% should not be underestimated. That small percentage determines everything from what we look like to how our body reacts to medication. Clinical DNA testing started in 1978 with the diagnosis of Sickle Cell which is caused by a mutation of the β-globin gene (Scott). This kickstarted the screening of potential carriers for other genetic mutations. Gene testing has allowed healthcare professionals to identify risks for their patients, allowing them to act early before it’s too late. In Pharmacogenetic testing the entire genome (the entire set of genes found in a cell) is tested. Additionally, more complex genotyping for important genes has been developed to predict an individuals metabolism rate for certain drugs. This allows doctors to more accurately select a medication that will have the greatest positive affect on the patient. Currently, doctors prescribe medication based off of the patients sex, age, and weight. The growth of pharmacogenetics will completely advance the healthcare field in ways we’ve never seen before.
Pro’s of Pharmacogenetics
The use of pharmacogenetics clinically is still relatively new. The Human Genome Project (HGP) was finished in 2001. HGP started as a base for pharmacogenetics. HGP identified a more accurate number of about 20,500 human genes. The number before was though to be between 50,00 to 140,000 (National Human Genome Research Project). The HGP introduced more accurate technology for studying human genes. Fast forward to 2018 the technology produced by the HGP are improving and saving lives.
The use of pharmacogenetics in clinical circumstances allows patients to find the right medication sooner. Pharmacogenetics eliminates the risk of unsafe medication for the patient by identifying the interaction between the patient and medication before the medication is even prescribed. Pharmacogenetics also allows healthcare providers to determine the safe amount of medication, reducing chances of overdose or prescribing too low of a dose. As a result this will increase patients safety and save insurance companies millions potentially decreasing the cost of health insurance.
Cons of Pharmacogenetics
While testing patients to ensure safety and effective results from medication may seem like a foolproof plan, it does however come with unforeseen negatives. Due to the science of pharmacogenetics still being new, it’s hard to provide accurate readings to patients. The field still lacks solid study results. Plus, the extreme amount of gene variations and endless medication options only complicates the field even more.
Imagine you’re in the cold and flu aisle at your local grocery store. There are tons of different brands and variations of the medication you need. Imagine that aisle also contained the high dose medication you can buy from the pharmacist, or all the medication your doctor could prescribe including different dosages. Like the medication in the cold and flu aisle, there are different brands and variations that your doctor has to choose from to prescribe. All of these medications offer an endless amount of options. This makes it harder to actually find the right type of medicine even with pharmacogenetics. Michael Cala, a script writer for NATO, posted on his Linkedin account stating “In terms of clinical issues, there may ultimately be hundreds or even thousands of highly similar drugs with only slight – but telling – differences based on individual genetic codes. This abundance of similarly constituted drugs may greatly complicate the best selection of drug and dosing.” Of course these are merely bumps in the road to accurate and efficient pharmacogenetic testing. With the advancement of modern science these problems will be one of the past.
Future of Pharmacogenetics
Healthcare experts predict that the future of the healthcare field will be drastically different than it’s current state. Currently doctors are paid on how many patients they see. Because of this patients are receiving low quality healthcare and are treated as a number rather than a patient. Dr. Daniel Wozniczka, M.D. explains in a TEDx talk. He explores the consequences of treating healthcare as a business. Dr. Wozniczka compares hospitals that are run by people who have an MBA vs the few hospitals that are ran by people with an MD. The hospitals ran by doctors outperform ones ran by business men. Dr. Wozniczka states that “in almost every single quality metric we had, whether it be cost of care, medical errors, length of stay… they outperform the other hospital [ran by MBA] by 25 percent or more.” He later explains that medical schools are now allowing students to receive an MD along with an MBA to increase the number of hospitals ran by people with medical experience. So what does a hospital’s management have to do with pharmacogenetics?
America is said to have the best healthcare in the world. However, when it comes to accessing healthcare it is among the worst. With more more doctors entering positions to call the shots we should see more accessible and reasonable healthcare services, such as pharmacogenetics. Many insurance companies won’t pay for pharmacogenetics because they see it as an experimental service. The fact is, people who only view healthcare as numbers on spreadsheets, rather than a science, are impending on beneficial healthcare for everyone.
It’s likely that healthcare will transition into an environment that encourages growth for specialities like pharmacogenetics. This will change healthcare as we know it. The pharmaceutical field creates medicine with the intent that it will work for the majority of the population in a similar way. Now that pharmacogenetics is being implemented in healthcare, medicine will no longer be one size fits all. This means that medications will be improved to match the speed at which a patients kidneys and liver metabolizes the drug. Resulting in a stronger intended effect of the medication while curving the unintended side effects. This means birth control without nausea, weight gain, and mood changes. This means aspirin without the risk of Reye’s syndrome, painkillers with a lower risk of addiction, or even cancer treatment without hair loss. The advancement of pharmacogenetics will allow unimaginable possibilities.
Pharmacogenetics falls under an umbrella of genetic science in healthcare. Genetics is said to be the future of healthcare. Genetic manipulation, a controversial field, is also booming. Genetic manipulation is the manipulation of a genome in an organism. This allows for a change in appearance. For example, chickens are often subject to genetic manipulation to grow more meat faster. Genetic manipulation is predicted to be used in the same manner of plastic therapy with the idea of changing appearance. This can also be used on unborn fetuses, allowing parents to choose how their child looks. However genetic manipulation may also be used to change genes to reduce risk of certain diseases, like cancer. Genetic therapy is also becoming more popular. Similar to genetic manipulation, gene therapy is replacing or changing a gene in order to treat a disease. This is more focused on the treatment of diseases rather than appearance of an individual.
Genetics in healthcare is becoming more popular and more useful. Within our lifetimes doctors will prescribe medication based off of our genetic make up, rather than body type. Treatment for diseases will be more accurate. Medication will soon no longer have harmful side effects on patients. The exciting advancement in healthcare will improve everyday health for everyone. Pharmacogenetics won’t just be used in extreme circumstances, rather it will be used as commonly as blood screening. Pharmacogenetics may stand in the shadow of genetic manipulation and genetic therapy. The use of genetic manipulation and genetic therapy may very well eliminate common need for medication in the first place. Until then, personalized medication will still grow and become more of a necessity in a variety of patient care.