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Errors in Genetic Testing

The Fourth Case Series

Farmer, Meagan B. MS, CGC, MBA*,†; Bonadies, Danielle C. MS, CGC*; Mahon, Suzanne M. DNSc, RN, AOCN, AGN-BC; Baker, Maria J. PhD, FACMG, MS, LCGC§; Ghate, Sumedha M. MS, CGC; Munro, Christine MS, MPH, LCGC; Nagaraj, Chinmayee B. MS, LCGC#; Besser, Andria G. MS, CGC**; Bui, Kara MS, CGC††; Csuy, Christen M. MS, CGC‡‡; Kirkpatrick, Brianne MS, LCGC§§; McCarty, Andrew J. MS, LCGC¶,∥∥; McQuaid, Shelly Weiss MS, CGC¶¶; Sebastian, Jessica MS, LCGC##; Sternen, Darci L. MS, LCGC***; Walsh, Leslie K. MS, MPH, LCGC##; Matloff, Ellen T. MS, CGC*

doi: 10.1097/PPO.0000000000000391
Original Articles

Purpose In this ongoing national case series, we document 25 new genetic testing cases in which tests were recommended, ordered, interpreted, or used incorrectly.

Methods An invitation to submit cases of adverse events in genetic testing was issued to the general National Society of Genetic Counselors Listserv, the National Society of Genetic Counselors Cancer Special Interest Group members, private genetic counselor laboratory groups, and via social media platforms (i.e., Facebook, Twitter, LinkedIn). Examples highlighted in the invitation included errors in ordering, counseling, and/or interpretation of genetic testing and did not limit submissions to cases involving genetic testing for hereditary cancer predisposition. Clinical documentation, including pedigree, was requested. Twenty-five cases were accepted, and a thematic analysis was performed. Submitters were asked to approve the representation of their cases before manuscript submission.

Results All submitted cases took place in the United States and were from cancer, pediatric, preconception, and general adult settings and involved both medical-grade and direct-to-consumer genetic testing with raw data analysis. In 8 cases, providers ordered the wrong genetic test. In 2 cases, multiple errors were made when genetic testing was ordered. In 3 cases, patients received incorrect information from providers because genetic test results were misinterpreted or because of limitations in the provider's knowledge of genetics. In 3 cases, pathogenic genetic variants identified were incorrectly assumed to completely explain the suspicious family histories of cancer. In 2 cases, patients received inadequate or no information with respect to genetic test results. In 2 cases, result interpretation/documentation by the testing laboratories was erroneous. In 2 cases, genetic counselors reinterpreted the results of people who had undergone direct-to-consumer genetic testing and/or clarifying medical-grade testing was ordered.

Discussion As genetic testing continues to become more common and complex, it is clear that we must ensure that appropriate testing is ordered and that results are interpreted and used correctly. Access to certified genetic counselors continues to be an issue for some because of workforce limitations. Potential solutions involve action on multiple fronts: new genetic counseling delivery models, expanding the genetic counseling workforce, improving genetics and genomics education of nongenetics health care professionals, addressing health care policy barriers, and more. Genetic counselors have also positioned themselves in new roles to help patients and consumers as well as health care providers, systems, and payers adapt to new genetic testing technologies and models. The work to be done is significant, but so are the consequences of errors in genetic testing.

From the *My Gene Counsel, LLC, Branford, CT

Department of Genetics University of Alabama at Birmingham, Birmingham, AL

Saint Louis University, St Louis, MO

§Penn State Health, Hershey, PA

St Vincent Hospital Medical Genetics Clinic, Green Bay, WI

Children's Hospital of Pittsburgh, Pittsburgh, PA

#Cincinnati Children's Hospital Medical Center, Cincinnati, OH

**NYU Fertility Center, NYU Langone Health, New York, NY

††Prisma Health, Greenville, SC

‡‡Novant Health Presbyterian Medical Center, Charlotte, NC

§§Watershed DNA, Crozet, VA

∥∥PerkinElmer Genomics, Pittsburgh, PA

¶¶Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL

##UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA

***Department of Laboratories and Patient-Centered Laboratory Utilization Guidance Services, Seattle Children's Hospital, Seattle, WA.

The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article.

Reprints: Meagan B. Farmer, MS, CGC, MBA, My Gene Counsel, LLC, PO Box #612 Branford, CT 06405. E-mail:

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