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

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.

Psychological distress with direct-to-consumer genetic testing: a case report of an unexpected BRCA positive test result.

We report a case of a client who discovered she had a BRCA mutation following direct-to-consumer (DTC) genetic testing in the absence of genetic counseling. After testing she presented for genetic counseling with anxiety, distress, and a deficit of knowledge about what the DTC genetic testing revealed. Genetic counseling helped alleviate distress while empowering the client to apply the results of testing to improve medical management. Despite recent studies demonstrating no negative psychological impact of DTC genetic testing on the consumer, this case illustrates that significant psychological distress and confusion can occur as a result of DTC genetic testing for highly penetrant single gene disorders. Pre- and post-test genetic counseling in conjunction with DTC genetic testing may alleviate consumers' distress and empower clients to proactively utilize their result information.

Errors in delivery of cancer genetics services: implications for practice.

UNLABELLED: Advances in genetics have prompted recommendations that all healthcare providers perform genetic counseling and testing. Some experts are concerned about potential negative outcomes from cancer genetic testing performed without genetic counseling by certified genetics professionals. We report a national series of cases illustrating negative outcomes of cancer genetic testing performed without counseling by a qualified provider. Three major patterns emerged from analysis of these cases: 1) Wrong genetic test ordered, 2) Genetic test results misinterpreted, and 3) Inadequate genetic counseling. Negative outcomes included unnecessary prophylactic surgeries, unnecessary testing, psychosocial distress, and false reassurance resulting in inappropriate medical management. CONCLUSION: With the complexities of cancer genetic counseling and testing, it may be unrealistic to expect all clinicians to provide these services. A more realistic approach is better provider education and a framework in which healthcare providers identify patients who would benefit from a referral to a certified genetic counselor or experienced cancer genetics professional.