Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers

Gaucher disease (GD) is an autosomal recessive disease caused by GBA mutations that is especially common in the Ashkenazi Jewish (AJ) population. The link between GBA mutations and Parkinson disease (PD), a later-onset neurodegenerative condition, is well established, and studies have shown that GBA carriers have an increased lifetime risk of developing PD. Carrier screening for GD is frequently offered to couples during or prior to pregnancy, especially to those of AJ descent. However, no studies have been performed to assess if prospective parents would want to learn about their risk of developing PD incidentally through carrier screening. It is also unknown if pre-test counseling on this topic would affect screening uptake. In order to answer these questions, a survey was administered to individuals who screened negative for GBA mutations. Of the 75 participants, 86.7% believed that patients should be informed about the increased risk of PD prior to having GD carrier screening, and 93.3% responded that this information would not have changed their decision to have carrier screening. These results indicate that healthcare providers should take into consideration patient preferences when determining how to counsel about GD carrier screening. Additionally, these results have implications for genetic counseling about other later-onset conditions that may be incidentally ascertained through carrier screening.     

What do Patients Prefer: Informed Consent Models for Genetic Carrier Testing

The recent increased number of conditions for which patients can undergo genetic carrier testing raises the question of how best to obtain pre-test informed consent. Clinical approaches vary from a minimalist model to a model where patients are given detailed information about all conditions to be screened for. Few data exist as to patient preferences, or how information impacts decision-making. Eight high-literacy focus groups were conducted to assess the knowledge and preferences of pregnant patients and their male partners. Most groups indicated that some balance between details and brevity was optimal, recognizing that anxiety can occur when patients are provided with too much information and that the wide range of tests offered during pregnancy often led to confusion. Critical areas for the informed consent process included (1) details about the conditions and risk of being a carrier, (2) logistics of testing, (3) next steps if the test is positive, and (4) prognosis, options and resources if the child were to be affected with a disorder. It will be useful to develop model consent programs and prospectively assess their impact on informed consent and patient satisfaction, both when positive and negative results are received.     

Genetic Counselors’ Experience with and Opinions on the Management of Newborn Screening Incidental Carrier Findings

Newborn screening (NBS) is a public health program whose aim is to identify infants who will be clinically affected with a serious metabolic, genetic, or endocrine disorder; however, the technology utilized by many NBS programs also detects infants who are heterozygous carriers for autosomal recessive conditions. Discussion surrounding disclosure of these incidental carrier findings remains controversial. The purpose of this study was to assess genetic counselors’ attitudes about disclosure of carrier status results generated by NBS and to gather data on their experiences with incidental carrier findings. An electronic survey was distributed to genetic counselors of all specialties via the NSGC listserv, and a total of 235 survey responses were analyzed. Quantitative data were analyzed using IBM SPSS v24, and qualitative data were manually analyzed for thematic analysis. Results show that the counselor participants were overall in favor of routine disclosure. Those with experience in NBS were much more likely to strongly agree with one or more reasons for disclosure (p?<?0.001), whereas those with five or fewer years of experience were more likely to strongly agree with one or more reasons for non-disclosure (p?=?0.031). Qualitative analysis identified key motivating factors for disclosure, including helping parents to understand a positive screen, parents may otherwise be unaware of reproductive risk and they may not otherwise have access to this information, and, while genetic testing is inherently a complex and ambiguous process, this does not justify non-disclosure. The main motivating factor for non-disclosure was the need for better counseling and informed consent. The data suggest that implementation of an “opt-in/out” policy for parents to decide whether or not to receive incidental findings would be beneficial. The results of this study support the continued disclosure of incidental carrier findings; however, additional research is necessary to further determine and implement the most effective disclosure practices.     

Examining Parents’ Preferences for Group Parent Training for ADHD When Individual Parent Training is Unavailable

Parent training programs are considered well-established interventions for attention deficit hyperactivity disorder in children as they reduce behavioral impairment, but limited parent engagement decreases service effectiveness. We used a discrete choice experiment to examine how parent preferences for group vs. individual format might influence their participation in Parent training. Parents (N?=?260) seeking mental health services for children with elevated symptoms of attention deficit hyperactivity disorder in Ontario, Canada were participants. They preferred Individual parent training in another study and completed a discrete choice experiment composed of 30 choice tasks measuring Parent training format preference. In this paper, parents’ preferences for alternatives to Individual Parent training, specifically Group Parent training and Minimal Information options, were estimated. Specifically, this study asked “if first choice is unavailable, what is the second choice?” This question is important as many clinics may not be able to offer both group and individual therapy given state funding cuts for youth mental health services. Simulations predicted that 85.8?% of parents who initially preferred Individual Parent training would switch to Group Parent training that included step-by-step solutions to children’s emotional and behavior problems, and the possibility of feeling informed and confident. The remaining 14.2?% of parents preferred Minimal Information; these parents preferred internet services offered conveniently and timely. Findings highlight consideration of less appealing factors that families might trade for more desirable service elements in a cost-restrictive environment.     

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.     

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to participate in a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Sixty-four eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n = 28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. Twenty-nine percent (n = 13) were not planning to alter reproductive decisions. The remaining 9% (n = 4) of responses were unclear. Of 19 pregnant respondents, 42% (n = 8) elected PNDx, 11% (n = 2) planned amniocentesis but miscarried, and 47% (n = 9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. Two of 3 affected pregnancies were terminated. Disease severity was found to have significant association (p = 0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (p = 0.284). Most ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making.     

Toward a Model Informed Consent Process for BRCA1 Testing: A Qualitative Assessment of Women's Attitudes

As an initial part of a project to develop a model informed consent process for BRCA1 testing, we conducted a series of focus groups. At the groups, women initially expressed great interest in testing, but their interest diminished after learning more. If offered testing, women would most want to learn about test accuracy, practical details of testing, and management options if the result was positive. Perceived benefits of testing included gaining information leading to risk reduction, relief of uncertainty, more responsible parenting, and assisting in research. Perceived risks included the discomfort and cost of the testing process itself, and anxiety after a positive result. The risk of possible insurance discrimination was rarely mentioned spontaneously. Many women would want their providers to make recommendations, rather than be nondirective about testing. We observed that women vary greatly in their informational and counseling needs, and suggest that the informed consent process should be individualized, taking into account a woman's perception and her preferences for how testing decisions should be made.     

纸质与视频补充材料对手术知情同意体验的影响：以腹腔镜胆囊切除手术为例

知情同意书在医患沟通中起着间接传递信息的重要作用。以159名大学生为被试,通过操纵不同的知情同意方式,考察了纸质或视频补充信息对患者知情同意满意度、理解程度以及患者信息需求的满足程度影响。结果发现,接受纸质补充知情同意或视频补充知情同意的被试对知情同意过程的满意度、对手术信息的理解程度与知情同意信息需求的满足程度显著高于接受普通知情同意的被试。同时,纸质补充知情同意使得“治疗信息需求的满足程度”最高。这表明,纸质补充知情同意更能满足患者对治疗信息的需求。     

Factors Associated with Interest in Gene-Panel Testing and Risk Communication Preferences in Women from <Emphasis Type="Italic">BRCA1/2</Emphasis> Negative Families

Scientific advances have allowed the development of multiplex gene-panels to assess many genes simultaneously in women who have tested negative for BRCA1/2. We examined correlates of interest in testing for genes that confer modest and moderate breast cancer risk and risk communication preferences for women from BRCA negative families. Female first-degree relatives of breast cancer patients who tested negative for BRCA1/2 mutations (N = 149) completed a survey assessing multiplex genetic testing interest and risk communication preferences. Interest in testing was high (70 %) and even higher if results could guide risk-reducing behavior changes such as taking medications (79 %). Participants preferred to receive genomic risk communications from a variety of sources including: primary care physicians (83 %), genetic counselors (78 %), printed materials (71 %) and the web (60 %). Factors that were independently associated with testing interest were: perceived lifetime risk of developing cancer (odds ratio (OR) = 1.67: 95 % confidence interval (CI) 1.06–2.65) and high cancer worry (OR = 3.12: CI 1.28–7.60). Findings suggest that women from BRCA1/2 negative families are a unique population and may be primed for behavior change. Findings also provide guidance for clinicians who can help develop genomic risk communications, promote informed decision making and customize behavioral interventions.     

Informed horses are influential in group movements,but they may avoid leading

In species that move in cohesive groups, animals generally reach decisions through socially distributed processes, and individual knowledge is expected to influence collective decision making. Pooling of information should not be considered a general rule, however, since conflicts of interest may occur between group members. When resources are limited or highly attractive, higher-ranking individuals can prevent others from accessing food, and subordinates may have an interest in withholding information about its location. We investigated the role individual knowledge may play in recruitment processes in four groups of horses (Equus caballus). Animals were repeatedly released in a food search situation, in which one individual had been informed about the location of a preferred food, while another was a naïve control subject. Horses that were informed about the location of the feeding site were seen to approach the food source more steadily and were followed by a higher number of group members than their uninformed counterparts. Recruitment processes appeared mostly passive. Among the informed subjects, lower-ranking individuals were overall less followed than the higher-ranking ones. Most lower-ranking horses arrived alone at the feeding site. Non-followed informed subjects spent less time in active walk and used direct paths less frequently than followed animals, and they were joined by fewer partners at the attractive food source and spent more time feeding alone. This indicates that the influence of informed individuals on the behavior of other group members was a mixed process. Some horses brought nutritional benefits to their conspecifics by leading them to food supplies, whereas the behavior of others might be functionally deceptive.     

“I Am Uncertain About What My Uncertainty Even Is”: Men’s Uncertainty and Information Management of Their BRCA-Related Cancer Risks

Men with a germline pathogenic BRCA1 or BRCA2 variant have increased risks for developing breast, pancreatic, prostate, and melanoma cancers, but little is known about how they understand and manage their cancer risks. This study examines how men with BRCA-related cancer risks manage uncertainty and information about their risks. Twenty-five men who were either a BRCA carrier or have a BRCA-positive first-degree family member that put the participant at 50% chance of also being a BRCA carrier were interviewed for this study. Using uncertainty management theory as a theoretical framework, this study demonstrates that men manage uncertainty by seeking information from female family members, websites, and healthcare providers, and are under-informed about their cancer risks. Further, in handling their information, men prefer information about cancer risk percentages and screening recommendations in the form of lists presented to them via websites, printed literature, proactive healthcare providers, and an identifiable male spokesperson. Finally, men used BRCA-related cancer risk information to make decisions about whether or not to engage in screening and prevention, manage their BRCA-related cancer risks, and overall family well-being—yet often at the expense of their own individual risks. Implications for genetic counseling and family conversations are discussed.     

Chronicles of communication and power: informed consent to sterilisation in the Namibian Supreme Court’s <Emphasis Type="Italic">LM</Emphasis> judgment of 2015

The 2015 judgment of the Namibia Supreme Court in Government of the Republic of Namibia v LM and Others set an important precedent on informed consent in a case involving the coercive sterilisation of HIV-positive women. This article analyses the reasoning and factual narratives of the judgment by applying Neil Manson and Onora O’Neill’s approach to informed consent as a communicative process. This is done in an effort to understand the practical import of the judgment in the particular context of resource constrained public healthcare facilities through which many women in southern Africa access reproductive healthcare. While the judgment affirms certain established tenets in informed consent to surgical procedures, aspects of the reasoning in context demand more particularised applications of what it means for a patient to have capacity and to be informed, and to appropriately accommodate the disruptive role of power dynamics in the communicative process.     

Absolutely relative or relatively absolute: violations of value invariance in human decision making

Making decisions based on relative rather than absolute information processing is tied to choice optimality via the accumulation of evidence differences and to canonical neural processing via accumulation of evidence ratios. These theoretical frameworks predict invariance of decision latencies to absolute intensities that maintain differences and ratios, respectively. While information about the absolute values of the choice alternatives is not necessary for choosing the best alternative, it may nevertheless hold valuable information about the context of the decision. To test the sensitivity of human decision making to absolute values, we manipulated the intensities of brightness stimuli pairs while preserving either their differences or their ratios. Although asked to choose the brighter alternative relative to the other, participants responded faster to higher absolute values. Thus, our results provide empirical evidence for human sensitivity to task irrelevant absolute values indicating a hard-wired mechanism that precedes executive control. Computational investigations of several modelling architectures reveal two alternative accounts for this phenomenon, which combine absolute and relative processing. One account involves accumulation of differences with activation dependent processing noise and the other emerges from accumulation of absolute values subject to the temporal dynamics of lateral inhibition. The potential adaptive role of such choice mechanisms is discussed.     

Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project

Personal genome sequencing is increasingly utilized by healthy individuals for predispositional screening and other applications. However, little is known about the impact of ‘genomic counseling’ on informed decision-making in this context. Our primary aim was to compare measures of participants’ informed decision-making before and after genomic counseling in the HealthSeq project, a longitudinal cohort study of individuals receiving personal results from whole genome sequencing (WGS). Our secondary aims were to assess the impact of the counseling on WGS knowledge and concerns, and to explore participants’ satisfaction with the counseling. Questionnaires were administered to participants (n = 35) before and after their pre-test genomic counseling appointment. Informed decision-making was measured using the Decisional Conflict Scale (DCS) and the Satisfaction with Decision Scale (SDS). DCS scores decreased after genomic counseling (mean: 11.34 before vs. 5.94 after; z = ?4.34, p < 0.001, r = 0.52), and SDS scores increased (mean: 27.91 vs. 29.06 respectively; z = 2.91, p = 0.004, r = 0.35). Satisfaction with counseling was high (mean (SD) = 26.91 (2.68), on a scale where 6 = low and 30 = high satisfaction). HealthSeq participants felt that their decision regarding receiving personal results from WGS was more informed after genomic counseling. Further research comparing the impact of different genomic counseling models is needed.     

Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing

Genomic carrier screening can identify more disease-associated variants than existing carrier screening methodologies, but its utility from patients’ perspective is not yet established. A randomized controlled trial for preconception genomic carrier screening provided an opportunity to understand patients’ decisions about whether to accept or decline testing. We administered a survey to potential genomic carrier screening recipients who declined participation (N = 240) to evaluate their reasons for doing so. Two thirds of women declined participation. We identified major themes describing reasons these individuals declined to participate; the most common were time limitation, lack of interest, not wanting to know the information, and potential cause of worry or anxiety. Most women eligible for genomic carrier screening indicated that their reasons for opting out were due to logistical issues rather than opposing the rationale for testing. As expanded carrier screening and genomic sequencing become a more routine part of clinical care, it is anticipated there will be variable uptake from individuals for this testing. Thus, the advancement of clinical carrier screening from single genes, to expanded screening panels, to an exome- or genome-wide platform, will require approaches that respect individual choice to receive genetic testing for reproductive risk assessment.     

Do Birds of a Feather Cheat Together? How Personality and Relationships Affect Student Cheating

Academic misconduct is widespread in schools, colleges, and universities and it appears to be an international phenomenon that also spills over into the workplace (Nonis and Swift 2001; Sims 1993; Stone et al. 2011). To this end, while a great deal of research has investigated various individual components such as, demographic, personality and situational factors that contribute to cheating, research has yet to examine why students help others cheat and which students are being asked to help others cheat. In this study, we investigated if the closeness of the relationship to the individual requesting help in cheating to the individual being asked to help cheat, influenced the decision to help cheat. We also investigated if past cheating behavior predicted how an individual would respond to requests to cheat. Additionally, we sought to answer the following questions; whether minor cheating is more prevalent than serious cheating, what personality factors predict helping others cheat, who is helped, and how people rationalize helping others cheat. Results indicate minor cheating to be more prevalent, prudent personalities are less likely to have cheated or to help others cheat, individuals are more likely to help friends cheat than to help strangers, and past cheating behaviors is indicative of helping others to cheat. Implications for research and practice are discussed.