Linda Patrick-Miller

Learning of your parent's BRCA mutation during adolescence or early adulthood: a study of offspring experiences

Objective: To examine the experience, comprehension and perceptions of learning of a parents BRCA mutation during adolescence and early adulthood, and explore the impact on offsprings physical and psychosocial well‐being.

Should genetic testing for BRCA1/2 be permitted for minors? Opinions of BRCA mutation carriers and their adult offspring†

Although professional guidelines recommend against testing minors for adult‐onset genetic conditions, the genetic testing of minors for BRCA1/2 alterations has been debated in the literature. To better understand the opinions of BRCA mutation carriers regarding the genetic testing of minors and the cognitive and affective processes underlying these opinions, we interviewed BRCA mutation carriers and their adult offspring who had learned of their parents BRCA mutation. Semi‐structured interviews were conducted with 53 parents and 22 offspring. In response to a closed‐ended question, 52% (n = 39) of participants were opposed to the testing of minors. Responses to an open‐ended question indicate that many participants (24%, n = 18) feel that testing could be permitted for some minor offspring. Psychological risks and the insufficient maturity of minors were frequent concerns of participants opposed to testing minors. The potential to impact health behaviors was frequently cited as a reason to support the genetic testing of minors. These preliminary results suggest that many BRCA mutation carriers and their adult offspring have concerns about, or are opposed to the genetic testing of minors. However, a significant minority in our study would support testing minors. Greater support for testing among offspring could indicate increasing requests for early genetic diagnosis. Further research is necessary to explore the risks and benefits of providing genetic testing to minors for adult‐onset hereditary cancer syndromes in order to inform clinical practice and public policy and to ensure optimal psychosocial and medical outcomes for all members in families at risk for genetically determined disease.

Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility

Purpose:Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies. Methods:Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing.Results:In this model, tier 1 “indispensable” information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is “binned” into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing.Conclusion:A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice.Genet Med 17 6, 485–492.

Genetic counselor opinions of, and experiences with telephone communication of BRCA1/2 test results

Bradbury AR, Patrick‐Miller L, Fetzer D, Egleston B, Cummings SA, Forman A, Bealin L, Peterson C, Corbman M, O’Connell J, Daly MB. Genetic counselor opinions of, and experiences with telephone communication of BRCA1/2 test results.

Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing

Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing

Controversies in Communication of Genetic Risk for Hereditary Breast Cancer

Abstract:  Increased availability and heightened consumer awareness of “cancer genes” has increased consumer interest in, and demand for breast cancer risk assessment, and thus a pressing need for providers to identify effective, efficient methods of communicating complicated genetic information to consumers and their potentially at‐risk relatives. With increasing direct‐to‐consumer and ‐physician marketing of predictive genetic tests, there has been considerable growth in web‐ and telephone‐based genetic services. There is urgent need to further evaluate the psychosocial and behavioral outcomes (i.e., risks and benefits) of telephone and web‐based methods of delivery before they become fully incorporated into clinical care models. Given the implications of genetic test results for family members, and the inherent conflicts in health care providers’ dual responsibilities to protect patient privacy and to “warn” those at‐risk, new models for communicating risk to at‐risk relatives are emerging. Additional controversies arise when the at‐risk relative is a minor. Research evaluating the impact of communicating genetic risk to offspring is necessary to inform optimal communication of genetic risk for breast cancer across the lifespan. Better understanding the risks and benefits associated with each of these controversial areas in cancer risk communication are crucial to optimizing adherence to recommended breast cancer risk management strategies and ensuring psycho‐social well‐being in the clinical delivery of genetic services for breast cancer susceptibility.

Pharmacogenomics-Based Point-of-Care Clinical Decision Support Significantly Alters Drug Prescribing

Changes in behavior are necessary to apply genomic discoveries to practice. We prospectively studied medication changes made by providers representing eight different medicine specialty clinics whose patients had submitted to preemptive pharmacogenomic genotyping. An institutional clinical decision support (CDS) system provided pharmacogenomic results using traffic light alerts: green = genomically favorable, yellow = genomic caution, red = high risk. The influence of pharmacogenomic alerts on prescribing behaviors was the primary endpoint. In all, 2,279 outpatient encounters were analyzed. Independent of other potential prescribing mediators, medications with high pharmacogenomic risk were changed significantly more often than prescription drugs lacking pharmacogenomic information (odds ratio (OR) = 26.2 (9.0–75.3), P < 0.0001). Medications with cautionary pharmacogenomic information were also changed more frequently (OR = 2.4 (1.7–3.5), P < 0.0001). No pharmacogenomically high‐risk medications were prescribed during the entire study when physicians consulted the CDS tool. Pharmacogenomic information improved prescribing in patterns aimed at reducing patient risk, demonstrating that enhanced prescription decision‐making is achievable through clinical integration of genomic medicine.

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

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 pre- and 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. Thirty-three 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 patients, particularly those without prior BRCA1/2 testing, decline multiplex testing. Most patients who proceeded with testing did not experience negative psychological responses, but larger studies are needed. The tiered-binned approach is an innovative genetic counseling and informed consent model for further study in the era of multiplex testing.Genet Med 18 1, 25–33.

Utilizing Remote Real-Time Videoconferencing to Expand Access to Cancer Genetic Services in Community Practices: A Multicenter Feasibility Study

Background Videoconferencing 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. Objective To 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. Methods Patients 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. Results A 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. Conclusions Remote 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.

The validity and utility of the MD Anderson symptom inventory in patients with prostate cancer: Evidence from the Symptom Outcomes and Practice Patterns (SOAPP) data from the eastern cooperative oncology group

BACKGROUND The MD Anderson Symptom Inventory (MDASI) is a psychometrically validated patient-reported outcome measure that assesses the severity and impact of multiple symptoms related to cancer and its treatment and has the potential to guide treatment specific to patients with prostate cancer. Although the original MDASI validation study encompassed various cancer types, the instruments psychometric properties have not been examined in a large homogeneous sample of patients with prostate cancer. PATIENTS AND METHODS This study involved secondary analysis of data from the nationwide multicenter Eastern Cooperative Oncology Group (ECOG) SOAPP (Symptom Outcomes and Practice Patterns) study, which enrolled patients from 38 ECOG-affiliated institutions, including 6 academic centers and 32 community clinics. Data were used to establish the psychometric properties of the MDASI in a subsample of 320 patients with prostate cancer. The instrument was administered twice, approximately 1 month apart. RESULTS The MDASI demonstrated good internal consistency and test-retest reliability (with Cronbach alphas of ≥ .84 and intraclass correlations of ≥ 0.76 for all subscales), strong ability to discriminate between clinically different patient groups (by performance status, tumor response, and disease stage), and high sensitivity in detecting symptom change (with respect to patient-reported quality of life [QOL] between the baseline and 1-month follow-up visits). CONCLUSION The MDASI is a valid, reliable, and sensitive symptom-assessment instrument that can be used with confidence in descriptive and clinical studies of symptom status in patients with prostate cancer.