Errors in Genetic Testing: The Fourth Case Series

Abstract

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.

The current landscape of genetic test stewardship: A multi‐center prospective study

“…It is important to note that this study does not capture the value contributed by GCs in clinical settings working directly with patients or provider colleagues who assist with the selection of appropriate genetic tests. Genetic test request modification rates were not broken down by specialty, such as genetics versus non‐genetics ordering clinicians in this study; however, prior studies suggest higher order error rates for non‐genetics clinicians (Farmer et al., 2019; Haidle et al., 2017; Mathias et al., 2016). Some institutions have GCs who offer counseling and test recommendations at the request of non‐genetics clinicians.…”

“…A wealth of literature has emerged describing the benefits of including GCs in laboratory stewardship interventions (Conway et al., 2020; Dickerson et al., 2014; Haidle et al., 2017; Kotzer et al., 2014; Londre et al., 2017; Mathias et al., 2016; Miller et al., 2014; Riley et al., 2015; Suarez et al., 2017). The value GCs bring is demonstrated through optimizing patient care and experience, avoiding diagnostic errors, increasing overall healthcare value, and decreasing healthcare costs to patients and institutions (Arscott et al., 2016; Bonadies et al., 2014; Compass Hospital Improvement Innovation Network 2018; Dickerson et al., 2014; Farmer et al., 2019; Mathias et al., 2016; Miller et al., 2014; Riley et al., 2015).…”

Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes

“…Genetic testing performed without appropriate pre-and post-test genetic counselling can result in unnecessary genetic testing, misinterpretation of genetic test results leading to potentially inappropriate medical management (prevention/surveillance/intervention) [23][24][25]. As human genetic information is sensitive, inheritable and it influences lives of patients and relatives, the absence of genetic counselling can violate ethical standards and result in uninformed decision making about the individuals' life management [23][24][25].…”

Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists

“…20 In addition to underutilization of genetic services, there also is evidence of errors in risk calculation. [3][4][5][6][7] In 2011, when presented with several hypothetical clinical scenarios, 45% of physicians ordered BRCA1/2 testing for low-risk patients, 3 incorrectly assessing them as highrisk for BRCA1/2 mutations.…”