Telephone Genetic Counseling for High-Risk Women UndergoingBRCA1andBRCA2Testing: Rationale and Development of a Randomized Controlled Trial

Abstract

Genetic counseling and testing, particularly for adult onset conditions, has become increasingly available over the last decade, and it is expected that this trend will continue as additional genes are identified and as such testing diffuses into mainstream clinical care. To meet the increased demand for services, it will become necessary to explore alternative avenues to traditional face-to-face genetic counseling. One such modality is the use of telephone genetic counseling (TGC), which is easy to implement and still allows for comprehensive service delivery. Although TGC has been used with increased frequency, there is a paucity of data about its effectiveness and impact on important patient outcomes. This paper provides an overview of the evolution of telephone counseling in nongenetics and genetics settings. The rationale and aims of the largest randomized clinical trial to be performed with this mode of counseling in the context of cancer susceptibility testing for mutations in the BRCA1 and BRCA2 genes are also explained. In addition, procedural aspects of the genetic counseling intervention and the novel tools developed to facilitate this process and to ensure adequate counselor training and quality assurance are described.

A Comparison of Telephone Genetic Counseling and In‐Person Genetic Counseling from the Genetic Counselor's Perspective

“…Many study participants cited the lack of visual aid use in telephone counseling as making it more difficult to counsel patients by telephone compared to in person. This correlates with the Bradbury et al (2011) study which showed that the lack of visual aids was perceived as a disadvantage in TGC, as well as with Peshkin et al (2008) who provided specially designed visual aids to be sent to TGC patients ahead of their appointments. Interestingly, a few participants in the current study stated that not being able to use visual aids in TGC was not a disadvantage necessarily for the patient, but rather, a disadvantage for the counselor in the sense that visual aids may be used more for the counselor's benefit than for the patient's.…”

Implementation and outcomes of telephone disclosure of clinical BRCA1/2 test results

“…As above, we utilized our preliminary data, clinical expertise and existing literature to develop a protocol for telephone disclosure of genetic test results [9,12,27,29]. Telephone disclosure sessions were conducted by the genetic counselor who conducted the in-person pre-test counseling session and were scheduled in advance of the call (i.e.…”

“…Telephone communication has the potential to improve access from distant geographic locations, decrease access and care burdens for patients in scheduling and traveling to a clinical center, increase patients’ perceived control and decrease intimacy, which could foster communication for some individuals [8–10]. While telephone communication might not be inherently innovative, it is widely available, relatively inexpensive and an accessible option for many populations [9,11]. Prenatal genetic counselors have incorporated telephone communication into standard counseling services [12] and surgeons and radiologists have utilized telephone to provide faster communication of breast biopsy results [13].…”

“…Patients and providers also identify potential disadvantages to telephone communication, including loss of nonverbal communication cues, which could limit a provider’s ability to appreciate client needs and the lack of reimbursement models for telephone services [9,11,22]. Several small studies have suggested high satisfaction with telephone communication of BRCA1/2 test results [6,16,17,23], fewer have suggested comparable knowledge [6,16,17], psychological adjustment [6] and risk reduction behaviors [16].…”

“…To contribute to our understanding of the risks and benefits of alternative innovative delivery models for genetic testing for disease predisposition in “real world” clinical service systems, we utilized preliminary data from patients and providers, our team’s multidisciplinary expertise, and existing literature of genetic counseling, health communication and health behavior to develop a delivery model and protocol for telephone disclosure of genetic test results [9,12,26,27]. In this study, we sought to evaluate the feasibility of this delivery model in patients undergoing clinical BRCA1/2 testing, inform refinements to our initial protocol (reported separately), and evaluate immediate and delayed cognitive and affective responses to better understand the potential risks and benefits of telephone delivery of genetic test results.…”