Personalized, Precision, Genomic — What To Call What We Do

In any fast-emerging field, it takes a while for the terminology to standardize. It’s no different in pharmacogenetics. There is no concensus on whether to call what PGXL does personalized medicine, precision medicine, genomic medicine or something else.Search Term Use Personalized Med 050615

That lack of standardization may be confusing the public.

Research shows the general public doesn’t have a clue so far about this new type of medicine. In a survey last year of 1,024 consumers, the Washington DC-based Personalized Medicine Coalition found that 6 in 10 respondents had not heard the term personalized medicine. Among those who had heard the term, only 2 in 10 felt well-informed about it.

Google Trends notes the surge of interest in “precision medicine” (shows above, in red) after President Obama used the term, but for the last few years the most popular term has been “personalized medicine.” (The blue line on the chart.) That’s the term we use most around PGXL, because it keeps the focus on the patient in ways that genomic/precision/molecular don’t. They’re perfectly good terms, we just prefer to keep it personal.

by Tom Johnson

Pharmacy Practice: Pharmacogenetics is Crucial

Pharmacy Practice News assesses the Personalized Medicine landscape and concludes that continued development and implementation of pharmacogenetic testing and decision support technologies is crucial:

“This really is a drug-related issue. It’s natural for pharmacy to take a leadership role,” said Julie Johnson, PharmD, the dean of the University of Florida College of Pharmacy, and who led the launch of University of Florida’s pharmacogenomics program in 2012. “It’s pretty awesome that it’s risen on Obama’s radar,” she added. “It points to the vision that people are unique and that there are things we have to learn both from studies done on large populations and from teasing out differences in individuals.”

Evidence continues to underscore how variations in human genetic makeup may help explain differences in individual responses to treatments for cancer, HIV/AIDS and depression, among other health conditions. To date, 138 drugs including codeine, proton pump inhibitors, abacavir (Ziagen, ViiV) and irinotecan now have genetic data in their FDA-approved product labeling.


by Tom Johnson

DNA-Guided Therapy Is Only Getting Started

In the New York Times, Dr. Michael C Joyner argues that genetic medicine is disappointing and unworthy of increased research funding.

Given the general omerta about researchers’ criticizing funding initiatives, you probably won’t hear too many objections from the research community about President Obama’s plan for precision medicine. But I am deeply skeptical. Like most “moonshot” medical research initiatives, precision medicine is likely to fall short of expectations.

Dr. Joyner cites a lack of progress in several highly promising areas, including diabetes. What he does not acknowledge is that the genetic tests PGXL performs are providing important guidance in pain management, cardiovascular care, the treatment of depression and others.

It is in the nature of new technologies that value does not emerge evenly and simultaneously across all promising applications. But in certain situations, there is no doubt that genetic testing improves care. Medicare has studied and declared genetic testing medically necessary as part of the treatment of colorectal cancer, lung cancer, treatment-resistant depression and myocardial infarction. Genetic testing is guiding therapeutic choices for chemotherapies, antidepressants and anti-platelet agents to both identify the best medicine for that particular patient and to save money.

As Dr. Joyner pointed out, genetics is more complicated than we had imagined. Where we once assumed that the keys to effective treatment might lie in a few discreet genes, we have learned that efficacy is often determined by the interplay of several different genes. (That’s why PGXL is rolling out a genetic panel that gives physicians a 360 degree view of their patient’s medication response.) Like digital photography resolving more and more points of light, genetics will discern and capture more detailed genetic information at decreasing cost.

by Kara Maslowski

The Case for Genotyping Before Medicating

Pediatrics documents the first reported case of opioid intoxication associated with severe respiratory depression in a child taking tramadol. From the abstract:

A boy aged 5 years underwent ambulatory adenotonsillectomy under general anesthesia for OSAS and was discharged after an uneventful six hour postoperative stay. Later that day, the patient complained of increasing pain and was administered one oral 20mg dose of tramadol. One day after discharge, he was lethargic and was brought back to the medical center where the surgery was performed; on arrival at the emergency department, he was comatose with pin-point pupils, minimal respiratory effort, frequent apnea episodes, and an oxygen saturation of 48% in room air. His condition improved dramatically with noninvasive ventilation and intravenous naloxone. He was fully recovered and was discharged the following day.

After-the-fact CYP2D6 genotyping showed the boy to be an ultrarapid metabolizer of tramadol. His body processed the prodrug into an active metabolyte much faster than expected. Fast enough, in fact, to cause the equivalent of a drug overdose.

The authors of the study concluded that “alternative pain management options such as steroidal or nonsteroidal anti-inflamatory drugs (NSAIDs) should be further evaluated, along with CYP2D6 genotyping or phenotyping, to prevent adverse events and target an individualized analgesic therapy.”

In other words, had the patient been genotyped before the prescription of tramadol, the doctors would have been able to choose an alternative, less dangerous couse of treatment.

by Tom Johnson

Pain Management in Hospice Care

PGXL client ViaQuest is using pharmacogenetics to help manage pain for it’s hospice patients.

“Knowing which medication is genetically effective for that individual has the potential to directly impact one’s quality of life while providing comfort,” says Kathy Richard, ViaQuest’s Chief Clinical Officer. “

Providing the genetic information is a PGXL-developed pain panel that provides a 360-degree view of the patients’ drug sensitivities. That improves the chances that the patient’s pain will be alleviated while decreasing chances of with overmedication or adverse drug reaction.

Read a white paper on the project here.

by Tom Johnson

The Human Cost of Pain

It’s important, working in a scientifically exciting field like genetics, to remember that everything we do has a human impact. People dwell on the technology and economics. That’s why this article caught our attention. It’s a first-person account of motherhood in the shadow of chronic pain. It’s simultaneously inspiring and tragic.

PGXL pharmacogenetic testing, of course, can provide important information in treating pain — plotting genetic drug sensitivity so doctors and their patients can find the drugs most likely to work, the dosages that are sufficient without being crippling.

But all of it only has meaning because of stories like this:

My daughter is healthy and happy, but my own health has gotten much worse. The early months of changing diapers and clothes, nursing, and lifting her in and out of her crib caused irreparable damage to my wrist and shoulders. I can’t push her stroller much farther than the three blocks between home and day care. I can’t dress her by myself, or tie her shoes. I can’t make the appropriate hand motions to accompany “Itsy Bitsy Spider,” write out the alphabet, or brush her hair. But all that feels like mere window dressing for what I really can’t do: feel at all confident that I can take care of my child alone for more than an hour. On the few occasions that I’ve had to, the time passed in a blur that left me incapacitated and in tears.

It’s an emotional piece, the kind of story that animates our work.


by Tom Johnson