Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome?

Cascade testing for familial cancer syndromes has historically been difficult to execute. As part of a facilitated cascade testing pathway, we evaluated barriers to completion of cascade testing. Our previously published study evaluated a facilitated cascade testing pathway whereby a genetics team facilitated at-risk relative (ARR) cascade testing through telephone genetic counseling and mailed saliva kit testing. This follow-up study evaluated barriers to completion of cascade genetic testing through six-month follow-up telephone interviews. Probands identified 114 ARRs, of whom 97 were successfully contacted by telephone. Among those contacted, 83 (86%) reported interest in genetic testing and 14 (14%) declined. Among those reporting interest in testing, 71% (69/83) completed testing. Follow-up telephone interviews revealed that 14 ARRs did not complete testing despite reporting interest for the following reasons: concern about genetic discrimination, fear of a positive result and belief that the pathogenic variant was not relevant to his/her health. Five ARRs reported that they remained interested in testing and the telephone call prompted completion of testing. Even when facilitated by a medical team with prioritization of relative convenience, significant barriers to cascade testing ARRs for hereditary breast and ovarian cancer syndrome persist due to concern about genetic discrimination, cost, and fear of positive test results.

Metastatic epithelial ovarian cancer to Meckel's cave with leptomeningeal spread at time of diagnosis.

BACKGROUND: Brain metastasis occurs in 1-2.5% of epithelial ovarian cancer (EOC) cases and carries a poor prognosis. Typically, brain metastases arise 2-3 years following the primary diagnosis of EOC. Malignant spread to the brain discovered at the time of initial ovarian cancer presentation is exceedingly rare with minimal reported cases in literature. CASE: This is a rare case of highly aggressive EOC in a previously healthy 32-year-old woman with evidence of brain, bone, and vertebral metastasis at the time of initial diagnosis. This is the first reported case of EOC with spread to Meckel's cave with symptoms consistent with trigeminal nerve disruption. The disease rapidly progressed through radiation and front-line chemotherapy. CONCLUSION: This report highlights the first reported case of EOC with invasion of Meckel's cave-present at time of diagnosis. Consistent with most cases in the literature of brain metastasis in the setting of EOC, our patient had a highly aggressive tumor associated with a poor prognosis. With better primary management of EOC, along with increased overall survival in EOC patients following spread to the brain secondary to multimodal therapies, we can continue to expect increasing numbers of brain metastasis with uncommon sites of recurrence.