Good Results With Telephone Genetic Counseling for Breast and Ovarian Cancer
As genomic testing becomes more common, genetic counseling is increasingly performed via telephone. BRCA1/2 mutation carries increased risk for breast and ovarian cancer. In a noninferiority study reported in the Journal of Clinical Oncology, Schwartz et al compared genetic counseling for BRCA1/2 mutation testing via telephone vs in person. They found that telephone counseling was noninferior in the primary measures of knowledge, satisfaction, decision conflict, distress, and quality of life, but did not achieve equivalence with in-person counseling in test uptake.
Study Details
Eligible participants were women aged 21 to 85 years with a minimum 10% risk for a BRCA1/2 mutation who did not have newly diagnosed or metastatic cancer and who lived within the catchment area of a study site; all were recruited from the clinical genetic counseling programs at Lombardi Comprehensive Cancer Center, Mount Sinai School of Medicine, University of Vermont Cancer Center, and Dana-Farber Cancer Institute. Of 1,033 eligible women, a total of 669 were randomly assigned to telephone counseling (n = 335), in which all counseling was conducted by telephone, or usual care (n = 334), in which participants received in-person pretest and post-test counseling.
Primary outcomes were noninferiority of telephone counseling in knowledge (Breast Cancer Genetic Counseling Knowledge Scale), satisfaction (Genetic Counseling Satisfaction Scale), decision conflict (10-item version of Decisional Conflict Scale), distress (cancer-specific stress with Impact of Event Scale, perceived stress with four-item version of Perceived Stress Scale), and quality of life (Short Form-12 Mental Component Summary and Physical Component Summary). Secondary outcomes were equivalence of BRCA1/2 test uptake and costs of telephone counseling vs usual care. Interviews were conducted 2 weeks after counseling (pretest disclosure) and at 3, 6, and 12 months after randomization (post-test disclosure). The current report evaluated the 2-week and 3-month assessments.
Of the 669 randomly assigned women, 89.0% of the telephone group and 90.4% of the usual care group had counseling; 10.3% declined counseling and withdrew from the study; and 4.2% were excluded due to receiving test results before the 2-week assessment. Of the remaining 572 participants, 96.8% of the telephone group and 96.9% of the usual care group completed the 2-week assessment, and 89.9% and 94.0% completed the 3-month assessment.
The telephone group and the usual care group were balanced for age (mean, 48 years in both), BRCA1/2 probability (mean, 24% and 26%), education (≥ college for 80% and 79%), employment status (full time for 59% and 55%), race (85% and 87% white), Jewish ethnicity (28% and 30%), being previously affected with breast or ovarian cancer (64% and 67%), proband status (63% and 64% probands), recruitment site (eg, Lombardi Cancer Center for 64% in both), and distance to the clinic (mean, 21 and 24 miles). BRCA1/2 testing was positive in 13% and 15%, negative in 17% in both, and uninformative/variant in 45% and 49%, with 25% and 19% remaining untested.
Noninferior Outcomes
Telephone counseling was noninferior to usual care on all primary outcome measures at 2 weeks: knowledge (difference [d] = 0.03, lower bound of 97.5% confidence interval [CI] = −0.61), perceived stress (d = −0.12, upper bound of 97.5% CI = 0.21), and satisfaction (d = −0.16, lower bound of 97.5% CI = −0.70) had group differences and confidence intervals that did not cross the predefined 1-point noninferiority limit. Decision conflict (d = 1.1, upper bound of 97.5% CI = 3.3) and cancer distress (d = -1.6, upper bound of 97.5% CI = 0.27) did not cross the predefined 4-point noninferiority limit. Sensitivity analyses confirmed noninferiority for all outcomes after adjusting for multiple comparisons and imputing for missing follow-up data. Results at the 3-month assessment were virtually identical to those at 2 weeks.
Uptake Not Equivalent
Of those who completed pretest counseling, 84.2% of the telephone group vs 90.1% of the usual care group underwent genetic testing (relative risk = 0.93, 95% CI = 0.88–0.99); the lower bound of the 90% CI (d = −5.9%, 90% CI = −10.3% to −0.01%) was outside the predetermined equivalence range, indicating that telephone counseling was not equivalent to in-person counseling. Similar results were found in the intention-to-treat population sample (74.9% vs 81.4%, d = −6.5%, 90% CI = −11.8% to 0.01%).
Cost Reduction
Telephone counseling reduced per-person cost by $114.40, with savings attributable to shorter counseling times, less patient travel, and lower overhead. On the assumption of identical overhead costs, savings were reduced to $59 per person. The greatest cost savings ($321.40 per person) was for use of in-home buccal DNA kits by rural participants.
The investigators noted that factors contributing to the lower testing rate in the telephone group may have included the fact that usual care participants were able to provide DNA immediately following counseling. While the delay between telephone counseling and DNA provision could be a barrier to testing, use of in-home buccal kits could increase test uptake. The delay between counseling and DNA provision in the telephone group also allowed for greater deliberation that may have led some participants to forgo testing, a notion consistent with the fact that telephone counseling participants who declined testing had lower baseline risk scores and were less likely to consider risk-reducing surgery than those who completed testing.
The investigators further noted that a primary reason for study nonparticipation in the approximately one-third of eligible women who declined to participate was preference for in-person counseling; this suggests that telephone counseling is likely to be less effective among women with a strong preference for in-person counseling.
The investigators concluded, “Genetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs…. This study provides strong evidence for the noninferiority of [telephone counseling] in the BRCA1/2 setting. These results represent an initial step in the development of alternative genetics delivery approaches. As genomic tests proliferate, it will be increasingly critical to develop approaches to extend the reach and efficiency of counseling and lower costs.”
Marc D. Schwartz, PhD, of Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, is the corresponding author for the Journal of Clinical Oncology article.
The study was supported by National Cancer Institute grants, Lombardi Comprehensive Cancer Center Biostatistics and Bioinformatics Shared Resource, and Jess and Mildred Fisher Center for Familial Cancer Research. For full disclosures of the study authors, visit jco.ascopubs.org.
The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.
