Randomized comparison of phone versus in-person BRCA1/2 predisposition genetic test result disclosure counseling

Abstract

Purpose: This study evaluated whether phone results were equivalent to in-person result disclosure for individuals undergoing BRCA1/2 predisposition genetic testing. Methods: A total of 111 of 136 subjects undergoing education and counseling for BRCA1/2 predisposition genetic testing agreed to randomization to phone or in-person result disclosure. Content and format for both sessions were standardized. Data from the State-Trait Anxiety Inventory and the Psychological General Well-Being index were collected at baseline and then again at 1 week and 3 months after disclosure of test results. Baseline measures were administered after the following had occurred: counseling/education session had been conducted, informed consent had been obtained, and decision to be tested had been made. Satisfaction and cost assessments were administered after the result session. At 1 week, participants were asked their preferred method of result disclosure. Results: There were no differences in anxiety and general well-being measures between 50 phone and 52 in-person results disclosure. Both groups reported similar rates of satisfaction with services. Among those with a preference, 77% preferred the notification method assigned. There was a statistically significant preference for phone results among the 23% who did not prefer the method assigned. Greater costs were associated with in-person result disclosure. Conclusions: These data suggest that phone results are a reasonable alternative to traditional in-person BRCA1/2 genetic test disclosure without any negative psychologic outcomes or compromise in knowledge. However, further study is needed in a more clinically representative population to confirm these findings. Genet Med 2007:9(8):487-495. Key Words: genetic testing, genetic counseling, BRCA1/BRCA2, result disclosure, risk communicationBreast cancer is one of the most common forms of cancer in American women and the second leading cause of cancer mortality. More than 214,000 new breast cancer cases will be diagnosed in 2006, and approximately 5% to 10% of those cases will be associated with an inherited germline mutation in a dominant susceptibility allele. 1,2 As a consequence, the absolute number of breast cancer cases diagnosed annually that are associated with a genetic predisposition is considerable. The most common high penetrance breast cancer susceptibility alleles are BRCA1 and BRCA2, which account for at least half of all genetically predisposed breast cancer. [3][4][5] Family history has long been recognized as a risk factor for breast cancer, but it was not until the availability of clinical testing for mutations in BRCA1 and BRCA2 that breast cancer risk-assessment programs including genetic education, counseling, and testing became more widely available.One of the primary aims of cancer genetic education and counseling is autonomous informed decision-making with adequate psychologic support. With those goals in mind, many cancer genetic programs are multidisciplinary and see patients

Patient Preferences for Receiving Reports of Test Results

“…While studies suggest that results from a cancer susceptibility tests have the same impact on patients whether they are delivered in person or over the telephone, this is, to our knowledge, the first study to date that has addressed the preference of communication methods that are not in-person. 18,19 In addition, related to the sensitive nature of specific types of tests is the impact of patients' trust in the confidentiality of the information. Studies reporting a preference for US mail or telephone call reflect patients' perceptions that these are the most secure forms of communication.…”

Clinical genetics provider real-time workflow study

“…A recent study has shown that telephone reporting of genetic test results does not compromise patient knowledge or psychological outcomes, costs less than in-person reporting, and is preferred by some patients. 8 In our clinic setting, the decision to report most cancer genetic test results over the phone rather than in person was made about a year before the current study. This change has resulted in shortened waiting time for new clinic visits and has been essentially neutral from a reimbursement viewpoint, because the time slots previously reserved for these face-to-face follow-up visits have been devoted to other types of patients.…”

Telegenetics: a systematic review of telemedicine in genetics services

“…The potential for using telemedicine in clinical genetics service delivery has been highlighted by a number of authors, [19][20][21] who have suggested that it may enable more equitable access to genetics services for people who must otherwise travel long distances to specialist centers. Indeed, an increasing number of studies are exploring alternative models of service provision, including genetic counseling over the telephone, 22,23 and genetics consultations via real-time videoconferencing, 24 so as to improve equality of access, improve cost efficiency, and help to meet the increasing demand for these services.…”