Development and Evaluation of a Decision Aid for BRCA Carriers with Breast Cancer

BRCA+ breast cancer patients face high risk for a second breast cancer and ovarian cancer. Helping these women decide among risk-reducing options requires effectively conveying complex, emotionally-laden, information. To support their decision-making needs, we developed a web-based decision aid (DA) as an adjunct to genetic counseling. Phase 1 used focus groups to determine decision-making needs. These findings and the Ottawa Decision Support Framework guided the DA development. Phase 2 involved nine focus groups of four stakeholder types (BRCA+ breast cancer patients, breast cancer advocates, and genetics and oncology professionals) to evaluate the DA's decision-making utility, information content, visual display, and implementation. Overall, feedback was very favorable about the DA, especially a values and preferences ranking-exercise and an output page displaying personalized responses. Stakeholders were divided as to whether the DA should be offered at-home versus only in a clinical setting. This well-received DA will be further tested to determine accessibility and effectiveness.     

Development and Evaluation of a Decision Aid About Prenatal Testing for Women of Advanced Maternal Age

Objective: To develop and evaluate a decision aid designed to prepare patients of advanced maternal age for counseling about prenatal diagnostic testing. Setting: A regional genetics center. Design: A before/after study. Interventions: Participants used an audioguided workbook to learn about options and outcomes and to clarify personal risks, values, questions, and predispositions. Subjects: 21 women of advanced maternal age and 17 spouses. Main outcome measures: Knowledge of prenatal testing alternatives, decisional conflict, level of anxiety, and acceptability of the decision aid. Results: After using the decision aid, participants had significantly reduced decisional conflict (uncertainty) and a significant increase in knowledge. There was no effect on state or trait anxiety. More than three-quarters of participants were satisfied with the length, clarity, balance, and acceptability of the decision aid. Conclusions: The decision aid shows promise as a useful aid for preparing couples for counseling.     

Development of a Communication Aid to Facilitate Risk Communication in Consultations with Unaffected Women from High Risk Breast Cancer Families: A Pilot Study

The literature on risk perception in women from high-risk breast cancer families reveals persistent over-estimation of risk, even after counseling. In this study, a communication aid was designed to facilitate discussion of risk between clinical geneticists and genetic counselors and women from this high-risk population. Method: Stage 1. The aid was developed by an expert panel of clinical geneticists, genetic counselors, psychologists, an epidemiologist, an oncologist, linguists and a consumer. It was guided by the international literature on risk communication and a large multi-centre Australian study of risk communication. The 13 page full-color communication aid used varying formats of words, numbers, graphs and pie-charts to address (a) the woman’s subjective risk; (b) the population risk of breast cancer; c) the risk of inherited breast cancer; (d) the cumulative risk for women with BRCA1 and BRCA2 mutations; (e) family risk factors; (f) the woman’s suitability for genetic testing; (h) screening and management recommendations, and (i) a re-assessment of the woman’s subjective risk. Stage 2: A before–after pilot study of 38 women who were unaffected with breast cancer and were attending four Australian familial cancer clinics was undertaken. Baseline and follow-up questionnaires were completed by 27 women. Outcomes were compared to those observed in 107 similar women undergoing genetic counseling without the communication aid in 2001. Results: The risk communication aid appears to be beneficial; breast cancer genetics knowledge improved in some areas and importantly, risk perceptions improved in the cohort receiving the communication aid. Psychological measures showed no difference in anxiety or depression between the group receiving the communication aid and the comparison cohort. Women and clinicians were very positive about the usefulness of the communication aid as an adjunct to the genetic counseling consultation.     

Design and Evaluation of a Decision Aid for Inviting Parents to Participate in a Fragile X Newborn Screening Pilot Study

The major objectives of this project were to develop and evaluate a brochure to help parents make an informed decision about participation in a fragile X newborn screening study. We used an iterative development process that drew on principles of Informed Decision Making (IDM), stakeholder input, design expertise, and expert evaluation. A simulation study with 118 women examined response to the brochure. An independent review rated the brochure high on informational content, guidance, and values. Mothers took an average of 6.5 min to read it and scored an average of 91.1 % correct on a knowledge test. Most women rated the brochure as high quality and trustworthy. When asked to make a hypothetical decision about study participation, 61.9 % would agree to screening. Structural equation modeling showed that agreement to screening and decisional confidence were associated with perceived quality and trust in the brochure. Minority and white mothers did not differ in perceptions of quality or trust. We demonstrate the application of IDM in developing a study brochure. The brochure was highly rated by experts and consumers, met high standards for IDM, and achieved stated goals in a simulation study. The IDM provides a model for consent in research disclosing complicated genetic information of uncertain value.     

Personal Genomic Testing as Part of the Complete Breast Cancer Risk Assessment: A Case Report

Patient access and utilization of personal genomic testing is becoming increasingly common. We present a case of a patient's personal genomic screening results leading to early detection of infiltrating breast ductal cell carcinoma via MRI scan. This case exemplifies the successful integration of personal genomic testing into the primary care setting, with the guidance and support of genetic counseling services. We discuss the scientific basis of the patient's genome scan results and risk assessment, and how this informed her decision-making and subsequent screening. We also expound upon the role of personal genomic testing as compared to other screening tests in the complete breast cancer risk assessment.     

The Effect of a Computerized Decision Aid on the Development of Knowledge

This study provides evidence on how the use of a computerized decision aid affects knowledge acquisition. While the intent of such computer-based decision aids is to improve and support unaided human judgments, it is unclear whether the use of the aids actually facilitate knowledge transfer. Seventy-six subjects completed a hypothetical decision task where one of two types of decision aids was used: an expert system or traditional textual materials. Results suggest that those using a computer-based decision aid acquired and encoded in memory less declarative knowledge than those using textual reference materials. Implications of the findings are discussed.     

Development and Pilot Testing of a Cognitive-Behavioral Therapy Digital Service for Body Dysmorphic Disorder

Body dysmorphic disorder (BDD) has a severe presentation and chronic course when untreated. Although effective BDD treatments exist, most individuals do not have access to them. We therefore developed and pilot tested the first smartphone-delivered individual cognitive-behavioral therapy (CBT) treatment for adults with BDD. The digital service was developed via user-centered design, integrating input from engineering, design, and psychology experts, plus BDD patient consultants. We conducted a 12-week open pilot trial (N = 10) to describe preliminary results for feasibility, acceptability, and treatment outcome. Attrition rates (0%) and feedback on usability and satisfaction indicated that smartphone-based CBT for BDD may be feasible, acceptable, and satisfactory. Initial results suggest that smartphone-based CBT for BDD may hold promise for improving BDD symptom severity, BDD-related insight, functional impairment, and quality of life, as scores from baseline to posttreatment improved with large-to-very large effects; depression improved with a medium effect. Ninety percent of participants were responders at posttreatment and 3-month follow-up. Smartphone-based CBT for BDD may have strong potential as a standardized, low cost, and accessible treatment for this debilitating illness. A test of efficacy is merited as a next step, using a well-powered, randomized control trial design.     

Development and Preliminary Feasibility Testing of a Decision Support Tool for Childhood Anxiety Treatment

In this practical application, we describe the steps to build a decision-support tool using GeNIe 2.1 software. The method incorporates principles of decision analyses and allows for a systematic strategy to balance treatment efficacy data with patient preferences. We illustrate the utility for helping clinicians and patients choose between two or more efficacious treatment options (CBT, medication, or their combination). Preliminary pilot data from families (n = 5) seeking services at a specialty clinic for childhood anxiety disorders support the usability of the tool and high patient satisfaction. We use case examples and sample graphical output to illustrate how the decision-support system can be used to integrate data on (a) baseline symptom severity, (b) the relative effectiveness of two or more treatment options, and (c) patient preferences and values, to arrive at a personalized treatment recommendation. The decision-support tool enabled child and parent preferences to be explicitly stated and facilitated discussions about how best to incorporate their preferences into an evidence-based treatment strategy.     

Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports

There has been very limited study of patients with chronic disease receiving potentially actionable genomic based results or the utilization of genetic counselors in the online result delivery process. We conducted a randomized controlled trial on 199 patients with chronic disease each receiving eight personalized and actionable complex disease reports online. Primary study aims were to assess the impact of in-person genomic counseling on 1) causal attribution of disease risk, 2) personal awareness of disease risk, and 3) perceived risk of developing a particular disease. Of 98 intervention arm participants (mean age = 57.8; 39% female) randomized for in-person genomic counseling, 76 (78%) were seen. In contrast, control arm participants (n = 101; mean age = 58.5; 54% female) were initially not offered genomic counseling as part of the study protocol but were able to access in-person genomic counseling, if they requested it, 3-months post viewing of at least one test report and post-completion of the study-specific follow-up survey. A total of 64 intervention arm and 59 control arm participants completed follow-up survey measures. We found that participants receiving in-person genomic counseling had enhanced objective understanding of the genetic variant risk contribution for multiple complex diseases. Genomic counseling was associated with lowered participant causal beliefs in genetic influence across all eight diseases, compared to control participants. Our findings also illustrate that for the majority of diseases under study, intervention arm participants believed they knew their genetic risk status better than control arm subjects. Disease risk was modified for the majority during genomic counseling, due to the assessment of more comprehensive family history. In conclusion, for patients receiving personalized and actionable genomic results through a web portal, genomic counseling enhanced their objective understanding of the genetic variant risk contribution to multiple common diseases. These results support the development of additional genomic counseling interventions to ensure a high level of patient comprehension and improve patient-centered health outcomes.     

Development of an Interactive Decision Aid for Female BRCA1/BRCA2 Carriers

Shared decision making between patients and providers is becoming increasingly common, particularly when there is no clear preferred course of action. As a result, decision aids are being adopted with growing frequency and have been applied to many medical decision-making issues. One such issue where there is uncertainty is breast cancer risk management among BRCA1/BRCA2 carriers. We present the development of a CD-ROM decision aid to facilitate risk management decision making in this population. Our decision aid was developed with the intention of providing it through a randomized clinical trial. The CD-ROM is a multimedia, interactive intervention which provides information about breast cancer, risks associated with BRCA1 and BRCA2 mutations, risk management options for hereditary breast cancer, and a breast cancer risk management decision aid. The goal of this CD-ROM, offered as an adjunctive intervention, is to reduce decisional conflict and psychological distress and improve comprehension of risk information, decisional satisfaction, medical adherence, and quality of life for this population of women at increased risk for breast cancer.     

Cost Sharing and Hereditary Cancer Risk: Predictors of Willingness-to-Pay for Genetic Testing

Increasing use of predictive genetic testing to gauge hereditary cancer risk has been paralleled by rising cost-sharing practices. Little is known about how demographic and psychosocial factors may influence individuals’ willingness-to-pay for genetic testing. The Gastrointestinal Tumor Risk Assessment Program Registry includes individuals presenting for genetic risk assessment based on personal/family cancer history. Participants complete a baseline survey assessing cancer history and psychosocial items. Willingness-to-pay items include intention for: genetic testing only if paid by insurance; testing with self-pay; and amount willing-to-pay ($25–$2,000). Multivariable models examined predictors of willingness-to-pay out-of-pocket (versus only if paid by insurance) and willingness-to-pay a smaller versus larger sum (≤$200 vs. ≥$500). All statistical tests are two-sided (α?=?0.05). Of 385 evaluable participants, a minority (42 %) had a personal cancer history, while 56 % had ≥1 first-degree relative with colorectal cancer. Overall, 21.3 % were willing to have testing only if paid by insurance, and 78.7 % were willing-to-pay. Predictors of willingness-to-pay were: 1) concern for positive result; 2) confidence to control cancer risk; 3) fewer perceived barriers to colorectal cancer screening; 4) benefit of testing to guide screening (all p?p?相似文献   

Reproductive Decision Support: Preferences and Needs of Couples at Risk for Hereditary Cancer and Clinical Geneticists

For couples at high risk of transmitting a cancer predisposition to offspring, reproductive decision-making can be challenging. As the choice between available reproductive options is preference-sensitive, the use of a decision aid can support these couples in their decisional process. The present study aims to investigate preferences and needs of involved stakeholders regarding the development and implementation of a patient decision aid. Semi-structured interviews assessing the needs and preferences regarding the content and functionalities of a decision support program were conducted among seven couples at risk for hereditary cancer and among eight clinical geneticists involved in oncogenetic counseling. Many similarities were found between the expressed preferences and needs of both stakeholder groups concerning the content, barriers and facilitating factors regarding the use of the decision aid, and its implementation. Emphasis was placed on the use of simple non-medical language, an extensive explanation of the procedures and techniques used in prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD), and the role of health care providers to refer couples to the decision aid. Both stakeholder groups were in favor of incorporating narrative stories in the decision aid. Integrating the present findings with knowledge on reproductive decisional motives and considerations is essential in guiding the development of a decision aid that corresponds to the preferences and needs of end-users. Trial registration: NTR5467     

在获得和失去情境中儿童风险决策的发展特点

以5～6岁、7～8岁、11～12岁儿童以及大学生为被试,让他们分别在获得情境和失去情境中进行风险决策,以考察儿童的风险决策发展特点.结果显示:(1)在获得情境中,5～6岁组、7～8岁组和大学生组被试冒险、保守决策各占50%左右,11～12)组被试保守决策占60%左右.(2)在失去情境中,所有被试的冒险决策均多于保守决策,但成人的冒险决策更明显.(3)与获得情境相比,在失去情境中儿童更倾向于冒险决策,偏好反转现象普遍存在.     

Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population

Communicating personalized genomic risk results for common diseases to the general population as a form of tailored prevention is novel and may require alternative genetic counseling service delivery models. We describe the development and evaluation of a communication protocol for disclosing melanoma genomic risk information to the asymptomatic general population and assess participants’ satisfaction and acceptability. Participants (n?=?117) were aged 22–69 years, living in New South Wales, Australia and unselected for family history. They provided a saliva sample and had genomic testing for melanoma for low to moderate penetrant melanoma susceptibility variants in 21 genes. Participants could choose to receive their results from a genetic counselor via telephone, followed by a mailed booklet or to receive their risk result via mailed booklet only with a follow-up call for those at high risk. A follow-up questionnaire was completed by 85% of participants 3-months later. Most participants (80%) elected to receive their result via telephone. Participants were highly satisfied with the delivery of results (mean 3.4 out of 4, standard deviation 0.5), and this did not differ by delivery mode, risk category, age or sex. On follow-up, 75% accurately recalled their risk category, 6% indicated a preference for a different delivery mode, either electronic or face-to-face. The process of disclosing genomic risk results to the general population over the telephone with accompanying written material was feasible and acceptable, and may be useful for communicating polygenic risk for common diseases in the context of increasing demands for genomic testing.     

Feasibility of Biological Sample Collection among a High-Risk Maternal Population for Child Maltreatment-Qualitative Pilot Findings

Little is known on the feasibility of biological sample collection among at-risk parents for child maltreatment participating in evidence-based parenting intervention studies evaluating behavioral outcomes. This study explored acceptability and feasibility of collecting biospecimen samples among 12 high-risk mothers. Data were taken from semi-structured baseline interviews among participants who provided salivary, hair and buccal swab samples for a pilot study examining biobehavioral stress responses to an evidence-based parenting program. Content analysis results suggest that while uncomfortable, biospecimen collection will not impede research participation. Providers should highlight connections between biology and behaviors to motivate parents and increase engagement in parenting programs.     

A Pilot Study of a Family History Risk Assessment Tool for Cardiovascular Disease

This study evaluated the effectiveness of using a family history questionnaire to ascertain patients and families at-risk for inherited cardiovascular disease. A questionnaire composed of 21 questions was developed based on the experience of a cardiovascular genetic counselor. This questionnaire was administered to 39 patients at a University-based cardiology practice reflecting general and specialized aspects of cardiovascular medicine. Using the number and degree of relatedness of relatives reported and limited age of onset information participants were ranked into three familial risk categories. Thirty-nine patients participated in this pilot study. Of the 39 patients, six Mendelian diseases were identified. All individuals surveyed in this study were found to be at high and/or moderate risk for at least one disease based on the family history questionnaire. Twenty-five out of 39 participants (64.1%) were found to be at high risk for at least one cardiovascular disease, and thirty-three out of 39 participants (84.6%) were found to be at moderate risk for at least one disease. A family history of arrhythmia disorders, hypertension, hyperlipidemia, coronary artery disease and diabetes were more likely to be associated with a personal history in family histories of both moderate and high risk. Family history questionnaires in cardiology clinics can be a cost-effective tool for identifying patients and families who are in the greatest need of genetic evaluation and genetic counseling services.