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Consequences of CYP2D6 Copy-Number Variation for Pharmacogenomics in Psychiatry

June 19, 2019

For the nearly 40 million U.S. adults who take psychiatric medications,1 there is growing concern that adverse drug events (ADEs) from therapeutic use of these medicines is amplifying the number of patients who visit emergency departments (EDs).  Recent data demonstrates that 1 in 5 of these ED visits results in hospitalization

Coriell Life Sciences Advancing Actionable Clinical Support for Mental Health ProvidersNovel technologies like pharmacogenomic (PGx) analysis look at the genes that control a patient’s ability to metabolize many commonly used drugs, and offer important insight into patient physiology which can have a significant impact in psychiatric care and treatment outcomes.  

New research from Coriell Life Sciences explores CYP2D6, a key gene involved in the metabolism in up to 25 percent of commonly prescribed drugs, and includes many antipsychotics and antidepressants. 

“My colleagues and I chose to examine CYP2D6 copy-number variation to offer ‘accessible science’ to help frontline providers navigate pharmacogenomics and improve outcomes for their patients.  We provide actionable data—including advantages and pitfalls—that effectively support clinical decision-making for mental health treatment,” says Jeffrey A. Shaman, PhD, Chief Science Officer at Coriell Life Sciences and lead author of the article.

Shaman notes that while PGx analysis can better inform medication therapy and improve patient outcomes, the research team says it should not be viewed as a panacea. “Pharmacogenomics is not a silver bullet.  This peer-reviewed article provides insights into how clinicians can discern if a patient is appropriate for DNA testing, pick the right clinical PGx test for a patient, use DNA testing results to best help their patients, and learn some genetics at the same time.”  

The research team, including Drs. Joseph P. Jarvis and Arul Prakasam Peter, evaluated the potential benefits and challenges of PGx analysis in psychiatry by studying the accurate measurement and interpretation of data from the CYP2D6 copy-number variation—which not only harbors multiple genetic variants known to affect individual enzyme function, but also shows a broad range of copy-number and hybrid alleles in various patient populations. 

The co-authors discuss best practices for overcoming many biological and technical hurdles and examine a variety of current and future applications of PGx analysis of CYP2D6 in psychiatry in an article titled, “Consequences of CYP2D6 Copy-Number Variation for Pharmacogenomics in Psychiatry,” published online in Frontiers in Psychiatry

1. “Adult Utilization of Psychiatric Drugs and Differences by Sex, Age, and Race,JAMA Internal Medicine, Feb. 2017.
2. “Emergency Department Visits by Adults for Psychiatric Medication Adverse Events,”JAMA Psychiatry, Sept. 2014.

Coriell Life Sciences believes in the power of genetic knowledge to disrupt healthcare, transform clinical support, and reduce costs.  We are trusted providers of and leaders in pharmacogenomic (PGx) interpretation and reporting services for patients, providers, payers, and laboratories. Coriell Life Sciences delivers the promise of personalized medicine through our turnkey program Enterprise PGx (EPGx), the most comprehensive medication safety solution on the market.  Our research partner is the storied Coriell Institute for Medical Research, dedicated to the study of the human genome since its founding in 1953.  Visit coriell.com, or email info@coriell.com, to learn more.