The combination of genetic information with clinical data can result in better outcomes and reduced costs
In the 1850s, an Austrian monk named Gregor Mendel discovered the basic principles of heredity through experiments with plants in his garden. Though the ideas of this high school teacher who taught math and physics while researching basic genetics had been published, Mendel’s work remained relatively obscure throughout his life. It wasn’t until 1900, 16 years after his death, that three botanists independently rediscovered his work while studying the laws of inheritance in relation to cells and chromosomes.
Since then, Mendel’s research and observations have become the foundation of modern genetics. From renowned scientists like Rosalind Franklin, James Watson and Francis Crick, all of whom contributed to the discovery of the structure of DNA, to Robert Guthrie who in the 1960s introduced the first newborn test for the genetically inherited metabolic defect phenylketonuria (PKU), countless individuals and organizations have built upon his research to increase our understanding of the critical role genetics plays in disease and prevention.
Though genetic testing was initially utilized for early detection, intervention and treatment of inherited conditions passed from parent to newborn—such as Tay-Sachs disease, cystic fibrosis, Down syndrome, sickle-cell anemia and PKU—research laboratories are now capable of conducting genetic tests for approximately 2,000 rare and common hereditary conditions, according to the National Institutes for Health. Genetic testing has also led to the development of new medicines to treat diabetes, infectious diseases and specific cancers, as well as critical information about how an individual will respond to and metabolize certain medications.
This field, often referred to as pharmacogenetics, is increasingly becoming the standard of care in various health conditions, including pain. Pain is of particular importance in the U.S., where pain has become the number one reason patients seek treatment from their primary care doctor.
According to the National Academies of Science, Engineering and Medicine, chronic pain—more prevalent and costly than heart disease, cancer and diabetes combined—affects more than 100 million Americans and accounts for $635 billion in healthcare costs and lost productivity. The dramatic proliferation of opioid pain medicines, which are highly addictive for a small percentage of the overall population, has arguably contributed to the proliferation of drug use and abuse in the U.S. In fact, in 2012 alone physicians wrote nearly 259 million prescriptions for opioids as a cost-efficient and clinically effective approach for controlling the epidemic of unresolved pain.
The Centers for Disease Control (CDC), which has officially declared prescription drug abuse an epidemic, reported that in 2014 the leading cause of accidental death in the U.S. was drug overdose, of which 18,893 of the 47,055 deaths recorded were related to prescription pain relievers. No longer confined to one particular stereotype, prescription and illicit drug abuse has infiltrated every socio-economic class, affecting every race and age group, with misuse of prescription opioids the strongest risk factor for heroin initiation and use—now also at an alarming and all-time high. The financial cost of drug abuse in the U.S. is more than $190 billion, with $130 billion in lost productivity, $20 billion in healthcare costs and $40 billion in legal costs, which includes efforts to stem the flow of drugs. In addition, the indirect cost of drug abuse to families and society include increased crime and homelessness, the spread of infectious diseases such as HIV/AIDS and hepatitis C, and adverse effects on unborn children of pregnant drug users. According to a published study of direct health insurance costs, an opioid abuser costs the system over $16,000 annually compared to less than $2,000 for a non-opioid abuser.
Role of Genetics in Abuse
Many medical experts, as well as reputable organizations, such as the National Institute on Drug Abuse (NIDA) and the American Society of Addiction Medicine (ASAM) have long understood the crucial role of genetics in dependency and abuse, with numerous studies indicating that at least half of a person’s susceptibility to drug addiction is linked to genetic factors. Within the fields of neuropsychiatry and pharmacogenetics, in particular, genetics has emerged as the key to evaluating medications that influence the areas of the brain where we feel the sensations of pain and the cravings of addiction. Yet despite a growing body of clinical research and data, genetic testing is not currently incorporated into the standard of care for those who suffer from our nation’s largest health condition – chronic pain.
Clinicians who treat pain have noted that the response to opioids and other pain medications varies widely among patients. Differences in the degree of pain stimulation and pain sensitivity, weight and age differences, prior opioid use and tolerance, as well as the differences in bioavailability of various opioid formulations have been cited as causes for the wide variability in analgesia seen with opioids. However, a significant component of chronic pain may also be explained by genetic polymorphisms. Genetic information may explain the variability of responses and help predict more effective (or less dangerous) treatments and medication choices and doses.
For nearly a year, Steven Richeimer, MD, division of pain medicine chief at Keck Medicine of University of Southern California (USC), has been implementing genetic testing to successfully treat patients living with chronic pain. Among hundreds of U.S. physicians and leading medical institutions utilizing a technologically advanced opioid risk profile which analyzes genetic and clinical data enables more accurate and evidence-based decision making—rather than trial-and-error approaches commonly utilized by prescribers today—Richeimer is better equipped to evaluate pain tolerance, response and immunity to opioid and non-opioid pain medication, and identify genetic predisposition for dependence and addiction.
Personalized Medicine Advantages
In his 2015 State of the Union address, President Obama announced the launch of the Precision Medicine Initiative—a research initiative echoing ongoing efforts—primarily by clinicians, researchers and physicians in the non-governmental sector—to replace a one-size-fits-all approach to treating patients with a personalized plan tailored specifically to an individual based on genetic variations, environment and lifestyle. Most notably, he stated:
“Doctors have always recognized that every patient is unique, and doctors have always tried to tailor their treatments as best they can to individuals. You can match a blood transfusion to a blood type — that was an important discovery. What if matching a cancer cure to our genetic code was just as easy, just as standard? What if figuring out the right dose of medicine was as simple as taking our temperature?”
That “what if” is no longer an open-ended question—personalized medicine is at hand as we utilize advances in “big data” to evaluate genetics and clinical data together. In the span of 100 years, advances in genetic testing have begun to transform healthcare. As we stand at the vanguard of combining this genetic information with clinical data about patients and outcomes, the decisions made my physicians, patients, and insurers alike will result in better treatment outcomes and reduced healthcare costs.