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Cancer J. 2014 Jul-Aug;20(4):246-53. doi: 10.1097/PPO.0000000000000057.

Adverse events in cancer genetic testing: the third case series.

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  • 1From the *Cancer Genetic Counseling, Yale Cancer Center/Yale School of Medicine, New Haven, CT; †Saint Francis Medical Center, Cape Girardeau, MO; ‡University of Miami, Miami, FL; §InformedDNA, St Petersburg, FL; ║Hoag Memorial Hospital Presbyterian, Hoag Cancer Institute, Newport Beach, CA; ¶St Mark's Hospital, Cancer Genetics Program, Salt Lake City, UT; #University of Pennsylvania, Philadelphia, PA; **Division of Medical Genetics, Emory University, Decatur, GA; ††George Washington University, Division of Hematology and Oncology, Washington, DC; and ‡‡Penn State Hershey Cancer Institute, Penn State Milton S. Hershey Medical Center, Hershey, PA.

Erratum in

  • Cancer J. 2014 Sep-Oct;20(5):367. Ernstx, Michelle E [corrected to Ernst, Michelle E].


After repeated media attention in 2013 due to the Angelina Jolie disclosure and the Supreme Court decision to ban gene patents, the demand for cancer genetic counseling and testing services has never been greater. Debate has arisen regarding who should provide such services and the quality of genetics services being offered. In this ongoing case series, we document 35 new cases from 7 states (California, Connecticut, Florida, Georgia, Missouri, Pennsylvania, and Utah) and the District of Columbia of adverse outcomes in cancer genetic testing when performed without the involvement of a certified genetic counselor. We identified 3 major themes of errors: wrong genetic tests ordered, genetic test results misinterpreted, and inadequate genetic counseling. Patient morbidity and mortality were an issue in several of these cases. The complexity of cancer genetic testing and counseling has grown exponentially with the advent of multigene panels that include rare genes and the potential for more variants of uncertain significance. We conclude that genetic counseling and testing should be offered by certified genetics providers to minimize the risks, maximize the benefits, and utilize health care dollars most efficiently.

[PubMed - indexed for MEDLINE]
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