Original research article INTRODUCTION Multiplex (i.e., multigene) panels including both high-and moderate-penetrance cancer susceptibility genes are currently being used in clinical practice despite questions regarding their clinical utility and no standard approach to genetic counseling and delivery. [1][2][3][4][5][6] The inclusion of genes with varying penetrance and clinical utility has raised concerns. 7 There are both advantages and disadvantages of multigene testing (as opposed to traditional phenotype-driven sequential testing), presenting challenges to patient education and informed decision making.3,7-10 The advantages and disadvantages of testing options must be shared with patients so they can make an informed decision regarding genetic testing. 8,[11][12][13][14] Traditional comprehensive models for pretest counseling and informed consent could be associated with information overload and poor informed decision making. 7,15 In addition, multiplex testing has the potential to increase anxiety, uncertainty, and the adoption of inappropriate screening procedures or risk-reducing surgeries. 3,7 Effective genetic education and counseling could minimize these risks and enhance adaptive responses to receiving multiplex results. 13This study has several aims. First, we sought to obtain patient feedback regarding the tiered-binned model for informed consent and counseling for multiplex testing among patients with a personal or family history of breast cancer. Second, we sought to begin to evaluate patient uptake of testing after pretest counseling and to evaluate informed decision making with the tiered-binned model. Third, we sought to begin to explore short-term cognitive and affective outcomes in clinical populations to better understand the potential risks, benefits, and utilities of incorporating multiplex genetic testing for breast cancer susceptibility assessment in clinical care. Purpose: The risks, benefits, and utilities of multiplex panels for breast cancer susceptibility are unknown, and new counseling and informed consent models are needed. We sought to obtain patient feedback and early outcome data with a novel tiered-binned model for multiplex testing.Methods: BRCA1/2-negative and untested patients completed preand posttest counseling and surveys evaluating testing experiences and cognitive and affective responses to multiplex testing. Results:Of 73 patients, 49 (67%) completed pretest counseling. BRCA1/2-negative patients were more likely to proceed with multiplex testing (86%) than those untested for BRCA1/2 (43%; P < 0.01). Many patients declining testing reported concern for uncertainty and distress. Most patients would not change anything about their pre-(76%) or posttest (89%) counseling sessions. Thirtythree patients (72%) were classified as making an informed choice, including 81% of those who proceeded with multiplex testing. Knowledge increased significantly. Anxiety, depression, uncertainty, and cancer worry did not significantly increase with multiplex testing. Conclusion:Some pati...
BackgroundVideoconferencing has been used to expand medical services to low-access populations and could increase access to genetic services at community sites where in-person visits with genetic providers are not available.ObjectiveTo evaluate the feasibility of, patient feedback of, and cognitive and affective responses to remote two-way videoconferencing (RVC) telegenetic services at multiple sociodemographically diverse community practices without access to genetic providers.MethodsPatients at 3 community sites in 2 US states outside the host center completed RVC pretest (visit 1, V1) and post-test (visit 2, V2) genetic counseling for cancer susceptibility. Surveys evaluated patient experiences, knowledge, satisfaction with telegenetic and cancer genetics services, anxiety, depression, and cancer worry.ResultsA total of 82 out of 100 (82.0%) approached patients consented to RVC services. A total of 61 out of 82 patients (74%) completed pretest counseling and 41 out of 61 (67%) proceeded with testing and post-test counseling. A total of 4 out of 41 (10%) mutation carriers were identified: BRCA2, MSH2, and PMS2. Patients reported many advantages (eg, lower travel burden and convenience) and few disadvantages to RVC telegenetic services. Most patients reported feeling comfortable with the video camera—post-V1: 52/57 (91%); post-V2: 39/41 (95%)—and that their privacy was respected—post-V1: 56/57 (98%); post-V2: 40/41 (98%); however, some reported concerns that RVC might increase the risk of a confidentiality breach of their health information—post-V1: 14/57 (25%); post-V2: 12/41 (29%). While the majority of patients reported having no trouble seeing or hearing the genetic counselor—post-V1: 47/57 (82%); post-V2: 39/41 (95%)—51 out of 98 (52%) patients reported technical difficulties. Nonetheless, all patients reported being satisfied with genetic services. Compared to baseline, knowledge increased significantly after pretest counseling (+1.11 mean score, P=.005); satisfaction with telegenetic (+1.74 mean score, P=.02) and genetic services (+2.22 mean score, P=.001) increased after post-test counseling. General anxiety and depression decreased after pretest (-0.97 mean anxiety score, P=.003; -0.37 mean depression score, P=.046) and post-test counseling (-1.13 mean anxiety score, P=.003; -0.75 mean depression score, P=.01); state anxiety and cancer-specific worry did not significantly increase.ConclusionsRemote videoconferencing telegenetic services are feasible, identify genetic carriers in community practices, and are associated with high patient satisfaction and favorable cognitive and affective outcomes, suggesting an innovative delivery model for further study to improve access to genetic providers and services. Potential barriers to dissemination include technology costs, unclear billing and reimbursement, and state requirements for provider licensure.
Objectives: With an increasing demand for genetic services, effective and efficient delivery models for genetic testing are needed. Methods: In this prospective single-arm communication study, participants received clinical BRCA1/2 results by telephone with a genetic counselor and completed surveys at baseline, after telephone disclosure (TD) and after in-person clinical follow-up. Results: Sixty percent of women agreed to participate; 73% of decliners preferred in-person communication. Anxiety decreased from baseline to post-TD (p = 0.03) and satisfaction increased (p < 0.01). Knowledge did not change significantly from baseline to post-TD, but was higher post-clinical follow-up (p = 0.04). Cancer patients had greater declines in state anxiety and African-American participants reported less increase in satisfaction. 28% of participants did not return for in-person clinical follow-up, particularly those with less formal education, and higher post-disclosure anxiety and depression (p < 0.01). Conclusions: Telephone disclosure of BRCA1/2 test results may not be associated with negative cognitive and affective responses among willing patients, although some subgroups may experience less favorable responses. Some patients do not return for in-person clinical follow-up and longitudinal outcomes are unknown. Practice implications: Further evaluation of longitudinal outcomes of telephone disclosure and differences among subgroups can inform how to best incorporate telephone communication into delivery of genetic services.
BackgroundDissemination of genetic testing for disease susceptibility, one application of “personalized medicine”, holds the potential to empower patients and providers through informed risk reduction and prevention recommendations. Genetic testing has become a standard practice in cancer prevention for high-risk populations. Heightened consumer awareness of “cancer genes” and genes for other diseases (eg, cardiovascular and Alzheimer’s disease), as well as the burgeoning availability of increasingly complex genomic tests (ie, multi-gene, whole-exome and -genome sequencing), has escalated interest in and demand for genetic risk assessment and the specialists who provide it. Increasing demand is expected to surpass access to genetic specialists. Thus, there is urgent need to develop effective and efficient models of delivery of genetic information that comparably balance the risks and benefits to the current standard of in-person communication.ObjectiveThe aim of this pilot study was to develop and evaluate a theoretically grounded and rigorously developed protocol for telephone communication of BRCA1/2 (breast cancer) test results that might be generalizable to genetic testing for other hereditary cancer and noncancer syndromes.MethodsStakeholder data, health communication literature, and our theoretical model grounded in Self-Regulation Theory of Health Behavior were used to develop a telephone communication protocol for the communication of BRCA1/2 genetic test results. Framework analysis of selected audiotapes of disclosure sessions and stakeholders’ feedback were utilized to evaluate the efficacy and inform refinements to this protocol.ResultsStakeholder feedback (n=86) and audiotapes (38%, 33/86) of telephone disclosures revealed perceived disadvantages and challenges including environmental factors (eg, non-private environment), patient-related factors (eg, low health literacy), testing-related factors (eg, additional testing needed), and communication factors (eg, no visual cues). Resulting modifications to the communication protocol for BRCA1/2 test results included clarified patient instructions, scheduled appointments, refined visual aids, expanded disclosure checklist items, and enhanced provider training.ConclusionsAnalyses of stakeholders’ experiences and audiotapes of telephone disclosure of BRCA1/2 test results informed revisions to communication strategies and a protocol to enhance patient outcomes when utilizing telephone to disclose genetic test results.
Introduction Sickle cell disease (SCD) research is hampered by disparities in participation due in part to mistrust of research among racial/ethnic minorities. Beyond the historic context of research misconduct, little is known about the associations of social ecologic factors with mistrust and of mistrust with SCD clinical trials enrollment. This study evaluated proximal (age, gender, disease severity, perceived stress, SES) and distal (religious beliefs, social support, instrumental support) factors related to mistrust of research among caregivers of children with SCD and adolescents and young adults (AYAs) with SCD. Methods Over an 18-month period (2009–2010), participants completed questionnaires of perceived barriers and benefits to clinical trials enrollment, perceived stress, and self-reported demographic and disease-related information. Analyses (January–June 2015) used multivariable linear regressions to evaluate predictors of mistrust. Results Data were analyzed for 154 caregivers (mean age, 38.75 years; SD=9.56 years; 90.30% female) and 88 AYAs (mean age, 24.76 years; SD=7.25 years; 46.40% female). Among caregivers (full model, R2=0.14, p≤0.001), greater mistrust was explained by higher perceived stress (β=0.04, p=0.052), religious beliefs (β=0.61, p≤0.001), and greater instrumental support (β=0.07, p=0.044). Among AYAs (full model, R2=0.18, p≤0.001), higher mistrust was explained by being male and lower instrumental support (β= −0.56, p≤0.001; β= −0.11, p=0.016, respectively). Mistrust was significantly greater among caregivers that reported no prior involvement in medical research (p=0.003). Conclusions By understanding the complexity through which social ecologic factors contribute to mistrust, researchers may create targeted strategies to address mistrust and increase engagement in SCD research for caregivers and AYAs.
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