New Study Reveals Americans Have Substantial Differences in Drug-Metabolizing Gene

CogenDx will present the study at the American Society for Clinical Pharmacology & Therapeutics Annual Meeting in Washington D.C., March 15-18

SAN DIEGO – March 16, 2017 – CogenDx, which offers genetic testing to identify how a patients’ genetic profile may impact his or her response to certain medications, unveils one of the largest studies of variation of the drug-metabolizing gene CYP2D6 in the US population. The study revealed that a wide range of different CYP2D6 genes, including the difficult-to-detect structural variants, are found in Americans. CYP2D6 metabolizes approximately one-quarter of prescribed medications, and the observed genetic diversity may explain why many patients do not respond well or have intolerable side effects when taking medications such as certain antidepressants, antipsychotics and opioids. The study was a collaboration with Children’s Mercy Kansas City.

“The detection of CYP2D6 structural variation is an important part of testing to accurately predict the function of this important drug metabolizing enzyme,” said Dr. Andrea Gaedigk, director of the Pharmacogenetics Core Laboratory, Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children’s Mercy Kansas City. “This study revealed that about 13 percent of the ethnically diverse US population carries structural variants; and a patient’s response to medications that are metabolized by CYP2D6 may not be accurately predicted by a test that does not include structural variants.”

In the study, a retrospective analysis was conducted using de-identified CYP2D6 genetic data from 104,509 patients from all regions of the United States. CYP2D6 structural variants were observed in 13 percent of patients. A majority of these structural variants (73 percent) are known to confer decreased or no CYP2D6 function. These results indicate a substantial contribution of structural variants to CYP2D6 function. The CYP2D6 structural variants are likely to be part of the explanation of why some Americans do not respond well to medications metabolized by CYP2D6.

“CYP2D6 tests vary among laboratories. CogenDx’s CYP2D6 test is able to detect a broad range of CYP2D6 variants, including structural variants, and thus is better able to identify patients in our multiethnic US population that may be at risk of side effects or ineffective treatment when taking certain medications.” said Andria Del Tredici, PhD, senior director, translational genetics, CogenDx.

The poster presentation will take place on March 16 from 4:30 – 6:30 pm at Exhibit Hall A/B South at the Washington Marriott Wardman Park in Washington, DC.

About CogenDx

CogenDx, the genetics brand of Millennium Health, LLC, helps clinicians personalize treatment decisions for patients using state-of-the-art molecular diagnostic technology. Our portfolio includes genetic testing that predicts response to commonly prescribed medications and determines genetic risks underlying potential surgical complications. For more information, email

About Children’s Mercy Kansas City

Founded in 1897, Children’s Mercy Kansas City is one of the nation’s top pediatric medical centers. With not-for-profit hospitals in Missouri and Kansas, and numerous specialty clinics in both states, Children’s Mercy provides the highest level of care for children from birth through the age of 21. U.S. News & World Report has repeatedly ranked Children’s Mercy as one of “America’s Best Children’s Hospitals.” For the fourth time in a row, Children’s Mercy has achieved Magnet nursing designation, awarded to fewer than seven percent of all hospitals nationally, for excellence in quality care. Its faculty of more than 700 pediatric subspecialists and researchers across more than 40 subspecialties are actively involved in clinical care, pediatric research, and educating the next generation of pediatric subspecialists. Thanks to generous philanthropic and volunteer support, Children’s Mercy provides medical care to every child who passes through its doors, regardless of a family’s ability to pay.


Jody Schneider
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