Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients

Abstract

Recent advances in next generation sequencing have enabled panel gene testing, or simultaneous testing for mutations in multiple genes for a clinical condition. With more extensive and widespread genetic testing, there will be increased detection of genes with moderate penetrance without established clinical guidelines and of variants of uncertain significance (VUS), or genetic variants unknown to either be disease-causing or benign. This study surveyed 232 patients who underwent genetic counseling for hereditary breast and ovarian cancer to examine the impact of panel gene testing on psychological outcomes, patient understanding, and utilization of genetic information. The survey used standardized instruments including the Impact of Event Scale (IES), Multidimensional Impact of Cancer Risk Assessment (MICRA), Satisfaction with Decision Instrument (SWD), Ambiguity Tolerance Scale (AT-20), genetics knowledge, and utilization of genetic test results. Study results suggested that unaffected individuals with a family history of breast or ovarian cancer who received positive results were most significantly impacted by intrusive thoughts, avoidance, and distress. However, scores were also modestly elevated among unaffected patients with a family history of breast and ovarian cancer who received VUS, highlighting the impact of ambiguous results that are frequent among patients undergoing genetic testing with large panels of genes. Potential risk factors for increased genetic testing-specific distress in this study included younger age, black or African American race, Hispanic origin, lower education level, and lower genetic knowledge and highlight the need for developing strategies to provide effective counseling and education to these communities, particularly when genetic testing utilizes gene panels that more commonly return VUS. More detailed pre-test education and counseling may help patients appreciate the probability of various types of test results and how results would be used clinically, and allow them to make more informed decisions about the type of genetic testing to select.

Longitudinal outcomes with cancer multigene panel testing in previously testedBRCA1/2negative patients

“…It would also be useful for future studies to compare medical management changes among those who get MGPT compared to a population that has not had testing. Equally important, there have been concerns that MGPT could be associated with greater misunderstanding, false reassurance or inappropriate use of screening or prophylactic surgery, particularly among those with a VUS result . In this study, with posttest counseling by both a GC and a physician, we did not find an increase in intention to have prophylactic mastectomy after MGPT, consistent with a recent study reporting no increase in prophylactic surgery after MGPT in breast cancer patients .…”

Impact of Receiving Secondary Results from Genomic Research: A 12‐Month Longitudinal Study

“…C. Sanderson et al, 2017). Although a direct comparison is not possible, it is notable that the values of the adjusted MICRA scale were lower than typically found in women having hereditary breast and ovarian cancer genetic testing (Cella et al, 2002; Lumish et al, 2017), suggesting less psychological impact of secondary results.…”

Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain

“…Therefore, in a cross‐comparison among different studies, gene panel testing does not seem to trigger a more intense psychological response compared with patients who undergo single‐gene testing. Similar results were found in previous studies …”