Patients presenting to three cancer centers in the United States were included in this study. The inclusion and exclusion criteria are shown below.
Patients were randomized 3:1 to either video-based on in-person counseling. After counseling, a family history questionnaire was administered. Almost all patients underwent germline genetic testing, which was done with the 67-gene Ambry CancerNext Expanded panel. Results were disclosed by a genetic counselor, and anyone with a positive result was encouraged to follow-up in a clinical genetics clinic. Patients with a negative test or variants of unknown significance were offered a clinic appointment if desired by the patient. Surveys regarding satisfaction, results disclosure preference, family communication, and other metrics were administered at the 1-, 4- and 12-month post-intervention time points.
Differences between groups were minimal with regards to median age, ethnicity, Gleason score, and disease status. Of the 605 patients randomized to either intervention, 597 patients (99%) consented to genetic testing, with no difference in consent to genetic testing by arm. Of the 593 patients that completed genetic testing, 84 pathogenic variants were identified in 78 patients.
The most common pathogenic variants identified were in the BRCA2 gene. A logistic regression model was performed for any positive genetic testing result, and separately for BRCA1/2 positive results to identify factors associated with a positive genetic test. Of the covariates of metastatic disease status, age (stratified as <= 55, 56-65, >65), Gleason score, and castration-sensitive, age < 65 years was associated with a higher likelihood of any positive genetic testing result (p=0.007).
In summary, there were no differences in uptake and completion of genetic testing interventions between video-based and in-person genetic counseling. Though not described in detail, the authors report no differences by arm in initial surveys of satisfaction and intent to disclose results to the family. Further data from post-intervention surveys and impact on patient management will be reported as these data become available.
Presented by: Huma Q. Rana, MD, Clinical Director of Cancer Genetics and Prevention, Assistant Professor of Medicine, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA
Written by: Alok Tewari, MD, Ph.D., Medical Oncology Fellow at the Dana-Farber Cancer Institute, at the 2020 American Society of Clinical Oncology virtual annual meeting (#ASCO20), May 29th-May 31st, 2020
Watch: The Delivering of Genetic Counseling, Processes and Outcomes, The ProGen Study - Mary-Ellen Taplin