Invitae, San Francisco, CA
Sarah M. Nielsen , Neal D. Shore , Mukaram Gazi , Christopher Michael Pieczonka , Sean Heron , David J Cahn , Laurence Belkoff , Aaron D. Berger , Brian Mazzarella , Joseph Veys , David Morris , Richard Bevan-Thomas , Alexander Engelman , Paul Dato , Robert Cornell , David R Wise , Mary Kay Hardwick , Brandie Heald , Robert Luke Nussbaum , Edward D. Esplin
Background: Germline genetic testing (GGT) affords prostate cancer (PCa) patients (pts) opportunities for targeted therapies, prevention and cascade testing. Patient-reported outcomes (PRO) can evaluate physician effectiveness in promoting patient test comprehension and clinical decision making, which are critical to realize the benefits of GGT. PROs from a large PCa GGT study among urologists were analyzed. Methods: A prospective study enrolled unselected PCa pts from 15 primarily community urology practices. Pts underwent 84-gene GGT, with PROs collected via electronic or paper surveys >1-month post GGT. Differences in proportions were determined using two-tailed Fisher’s exact test and significance was set at <0.05. Results: PROs were completed by 561/982 (57%) pts (85% white, 82% non-metastatic, median age at testing 70 years). 59 (11%) pts had positive results, 247 (44%) negative and 255 (46%) variants of uncertain significance (VUS). 72% accurately recalled their result (range, 50% [VUS]-93% [negative]). 66% of positive pts, 80% negative and 54% VUS correctly understood if their result was associated with cancer risk or not. 72% of positive pts had or planned to complete ≥1 physician recommendations, significantly more than negative or VUS pts (Table). Most pts reported that their test result reduced their concerns (40%) or did not impact their level of concern (52%) regarding their PCa diagnosis, treatment or followup. 19% of positive pts reported increased concern. Conclusions: GGT for PCa was deployed without causing undue concern and resulted in adherence to physician recommendations. Still, there is room for improvement in how test results (especially VUS) and recommendations are communicated to pts.
Recommendation | Total (n=561) | %* | Positive (n=59) | %* | Negative (n=247) | %* | VUS (n=255) | %* |
---|---|---|---|---|---|---|---|---|
No response | 25 | 5 | 2 | 3 | 11 | 5 | 12 | 5 |
No additional recommendations made by physician | 228 | 43 | 10 | 18 | 127 | 63 | 91 | 36 |
See a genetic counselor to further understand my test results | 62 | 20 | 10 | 21 | 19 | 9 | 33 | 22 |
New treatment plan | 72 | 23 | 9 | 19 | 26 | 13 | 37 | 2 |
New follow up plan | 31 | 10 | 3 | 6 | 15 | 7 | 13 | 9 |
Meet with a specialist to follow up on non-PCa concerns | 23 | 8 | 4 | 9 | 8 | 4 | 11 | 7 |
Recommend family members be tested and/or see genetic counselor | 70 | 23 | 25 | 53 | 19 | 9 | 26 | 17 |
Completed or plan to complete ≥1 of the above recommendations | 172 | 56 | 34 | 72^ | 56 | 28 | 82 | 54^ |
* Denominator excludes pts from rows 1 and 2. ^ Significant difference between positive and negative/VUS pts and between VUS and negative pts.
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