Challenges and Errors in Genetic Testing: The Fifth Case Series.

PURPOSE: In this ongoing case series, 33 genetic testing cases are documented in which tests were recommended, ordered, interpreted, or used incorrectly and/or in which clinicians faced challenges related to history/reports provided by patients or laboratories. METHODS: An invitation to submit cases of challenges or errors 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, as part of a case series with Precision Oncology News, and via social media (i.e., Facebook, Twitter, LinkedIn). Deidentified clinical documentation was requested and reviewed when available. Thirty-three cases were submitted, reviewed, and accepted. A thematic analysis was performed. Submitters were asked to approve cases before submission. RESULTS: All cases took place in the United States, involved hereditary cancer testing and/or findings in cancer predisposition genes, and involved medical-grade genetic testing, direct-to-consumer testing, or research genetic testing. In 9 cases, test results were misinterpreted, leading to incorrect screening or risk-reducing procedures being performed/recommended. In 5 cases, incorrect or unnecessary testing was ordered/recommended. In 3 cases, incorrect clinical diagnoses were made, or opportunities for diagnoses were delayed. In 3 cases, errors or challenges arose related to medical intervention after testing or reported genetic diagnosis. In 2 cases, physicians provided incorrect information related to the inheritance pattern of a syndrome. In 2 cases, there were challenges related to the interpretation of genetic variants. In 2 cases, challenges arose after direct-to-consumer testing. One case involved test results that should never have been reported based on sample quality. In 1 case, a patient presented a falsified test result. In 5 cases, multiple errors were made. DISCUSSION: As genetic testing continues to become more complicated and common, it is critical that patients and nongenetics providers have access to accurate and timely genetic counseling information. Even as multiple medical bodies highlight the value of genetic counselors (GCs), tension exists in the genomics community as GCs work toward licensure and Medicare provider status. It is critical that health care communities leverage, rather than restrict, the expertise and experience of GCs so that patients can benefit from, and not be harmed by, genetic testing. In order to responsibly democratize genomics, it will be important for genetics and nongenetic health care providers to collaborate and use alternative service delivery models and technology solutions at point of care. To deliver on the promise of precision medicine, accurate resources and tools must be utilized.

First-trimester screening and its impact on uptake of diagnostic testing.

OBJECTIVE: To determine the influence of first-trimester screening (FTS) on a patient's decision regarding prenatal diagnostic testing (PDT) and if the uptake rate of PDT has changed among women with advanced maternal age (AMA) following the January 2007 American College of Obstetricians and Gynecologists statement regarding FTS. METHODS: A database review was performed for the 2 years before and the 2 years after the January statement. A total of 7424 patient records were evaluated to determine the number of AMA women who obtained PDT, the number of positive and negative FTS results, and how many of those women had PDT. We then surveyed 53 patients and 23 referring physicians to determine what the patient understands about FTS, how patients utilize their FTS results, and how physicians educate their patients about FTS. RESULTS: We determined that there was a 19.6% decrease in the uptake of PDT since that statement. Prior to their counseling session (2009-2010), 43% of those surveyed were against having PDT. After counseling, only 9% were against PDT. Overall, 91% were either open to or wanted PDT after counseling. CONCLUSIONS: In addition to FTS results, we found that genetic counseling may be an influential factor in the patient's decision regarding PDT.