Parents’ Understanding of Genetics and Heritability

Parents have the opportunity to educate their children to facilitate behaviours and lifestyle habits that may prevent or delay genetic disease, or mitigate predispositions within the family. We sought to determine parents’ understanding of genetic knowledge and heritability. Using a quantitative survey methodology 108 volunteer participants were surveyed from a convenience sample of all parents/caregivers within the waiting room of a general children’s outpatient clinic. Results indicated that average genetic knowledge levels were fairly high, with the majority of participants scoring 70–80 % correct on knowledge-based questions. Further, scores were found to be positively correlated with education, but inversely correlated with self-perceived knowledge. This finding suggests that participants with less experience tended to overestimate their knowledge. We suggest that gaps in knowledge of genetics and heritability could be improved by using educational interventions such as media campaigns, provision of informational brochures, or changes to current high school curriculum which would increase exposure to genetics and heritability for both parents and children.     

Evaluation of a Clinical Genetics Service – A Quality Initiative

Paper-based surveys are an effective means of evaluating the quality of a clinical service. As part of ongoing quality improvement initiatives within our Genetics Program, new patients were invited to participate in a paper-based survey. Issues related to the quality of counseling based on educational/informational aspects (e.g. whether testing was explained fully, testing options, the meaning of normal/abnormal testing), competency, respect and nondirectiveness of counseling in addition to clinical environment/setting were evaluated. Data related to demographics, discipline seen within the program and whether the patient was seen by a physician or genetic counselor were also captured. Five hundred questionnaires were distributed. One hundred and forty-seven questionnaires were returned, with a response rate of 29.4 %. The majority of patients seen were prenatal (pregnant) patients and comprised a heterogeneous group including those seen for advanced maternal age and abnormal maternal serum screening. Overall, 98.6 % of respondents felt their appointment in genetics was a positive experience. Issues related to confidentiality, pros and cons of testing, meaning of an abnormal test result and time allotted for decision making were significantly different in some disciplines between genetic counselor and geneticist. However, when controlling for referral indication, these differences lost significance with the exception of issues relating to confidentiality and perceived time allotted to organize thoughts and questions. This survey provided valuable information to allow for improvement in the quality of the provision of service.     

Religion and Reproductive Genetics: Beyond Views of Embryonic Life?

Advances in new reproductive genetic technologies have spawned a very polarized public and political debate. As with the abortion debate, most formal opposition to these technologies comes from religious organizations that are concerned about embryonic and fetal life. In this article we conduct an analysis of the first nationally representative opinion survey on religion and reproductive genetics. We find, as in the abortion debate, that evangelicals, fundamentalists, and traditionalist Catholics are more opposed than more liberal religious groups. When we compare respondents with the same views on embryonic life, we find that differences remain in the level of approval for genetic technologies, suggesting that there is more to this debate than concern about embryos. We also find that religious conservatives are more distinct from the religious nonattenders in their views of health objectives of reproductive genetic technologies and less distinct in their views of improvement objectives.     

Fabricated Humans? Human Genetics,Ethics and the Christian Wisdom Tradition1

Abstract: This article highlights the key social issues associated with genetic screening and testing. It identifies an uneasy combination of a cultural drive towards perfection alongside heightened perception of a risk society. Awareness of risk is particularly in evidence in clinical genetics, but is surprisingly silent in public discourse about stem cell research, which has tended to flounder through its unilateral focus on the status of the early embryo. This article concentrates on current practice, such as the use of preimplantation genetic diagnosis, and offers a critical analysis of current debates about ethical issues. It argues that Christian ethics can contribute positively to the debate by drawing on the tradition of prudence or practical wisdom, which goes beyond the secular alternatives of both the consequential analysis of risk and benefit and the precautionary principle.     

Genetics: Can Moral Theology Help?

The article discusses Marc Lappé's use of the Principle of Double Effect (PDE) for justifying Germ Line Gene Therapy as a secondary effect of Somatic Gene Therapy. The author argues that Lappés argumentation is mistaken because it is based on a inadequate interpretation of the PDE's scope and function as a means of moral justification. Through an investigation into the history of PDE in Catholic theology, the author gives arguments that use of PDE relies upon some form of deontological framework which is not present in contemporary bioethics. The author concludes that isolated use of PDE, as Lappé seems to suggest, does therefore not warrant moral justification.     

A Balancing Act—Telehealth Cancer Genetics and Practitioners’ Experiences of a Triadic Consultation

Telehealth is increasingly used for outreach service in cancer genetic counseling; however what occurs during the consultation and the roles practitioners adopt is largely unknown. Fifteen practitioners participated in semi-structured interviews that explored their roles within telehealth, compared to face-to-face consultations, and the relationship between practitioners during telehealth. As they were not physically present with the patient, most participants felt that telehealth altered the genetic clinician’s role to one of a ‘visiting specialist’. Genetic counselors described undertaking multiple roles during the telehealth process. Two models of interaction were observed. The medical model reduced the interaction to a dyadic consultation by having the genetic counselor off-screen and included minimal clinician meetings and supervision. The triadic co-facilitation model incorporated a high level of information exchange, counselor autonomy and included the counselor onscreen. The co-facilitation model offers a useful framework for telehealth genetic counselling, offering complementary roles between practitioners and efficient service delivery.     

What’s the Harm? Genetic Counselor Perceptions of Adverse Effects of Genetics Service Provision by Non-Genetics Professionals

Anecdotal accounts suggest some patients have experienced negative outcomes as a result of receiving genetics services from non-genetics providers, but empirical evidence of these incidents and their outcomes is limited. This study examined genetic counselors’ perceptions of the occurrence of such incidents in the state of Minnesota. Twenty-five genetic counselors completed an on-line survey and 20 also participated in a semi-structured telephone interview. The interviewees recalled and described 37 specific incidents they perceived as having negative outcomes for patients and/or their families. Inductive and cross-case analysis revealed common themes including: adverse psychosocial effects, inadequate genetic counseling, genetic testing and screening errors, medical mismanagement, negative shifts in attitudes toward medical providers, and unnecessary use of health care resources. Commonly mentioned strategies for preventing/mitigating negative outcomes included: educational outreach and awareness programs for medical providers and the general public, standardized testing and screening processes, and implementing mechanisms for reporting and addressing adverse events. Additional findings, practice and policy implications, and research recommendations are discussed.     

The Role of Religious Values in Decisions About Genetics and the Public’s Health

The latest health care legislation, which promotes prevention and health screening, ultimately depends for its success on recognition of people’s values concerning the technologies being employed, not just the interventions’ technical virtues. Values concerning the deterministic nature of a condition and what groups should be targeted rest on a sense of what is morally, often religiously right in a given health circumstance. This paper looks at a number of leading-edge case examples—breast cancer genetic screening and family decision-making, and newborn screening and biobanks—in examining how the choices made at the individual, family, and societal levels rest on faith in a higher source of efficacy and moral perspectives on the measures that can be taken. Qualitative responses expressing people’s attitudes toward these technologies underscore the importance of considering faith-based values in individual decisions and collective policies on their use. These examples are considered in the context of the historic interplay between science and religion and recent definitions and models of health which incorporate physical, emotional, and social elements, and most importantly, are expanding to incorporate the religious and spiritual values domains.     

The Importance of Program Evaluation: How Can it be Applied to Diverse Genetics Education Settings?

The role of a genetic counselor often entails providing education to patient, community and/or health professional groups. While counseling supervision assists genetic counselors to be reflective about their clinical work and to enhance clinical skills, evaluation is a rather analogous process in the provision of education. Program evaluation of education activities can be applied to provide information about the needs of the target group (needs assessment), the delivery of the program (process evaluation) as well as determining the extent to which the education activity has met its intended aims (summative evaluation). Evaluation assists the educator to assess the impact of their program and provides an evidence base about genetics education. Although program evaluation can be a complex activity, the tools are ones that can be used by individuals to evaluate single or simple education activities. The components of evaluation are discussed with reference to genetic counseling practice and three very different examples of actual evaluations are provided to illustrate the diversity of evaluation strategy and programs to which it can be applied.     

Behavior Genetics: What's New? What's Next?

What's new in behavior genetics? With widespread acceptance that nearly all behavioral variation reflects some genetic influence, current studies are investigating developmental changes in the nature and magnitude of genetic and environmental effects, the extent to which different behaviors are influenced by common genes, and different forms of gene-environment correlation and interaction. New designs, focused on assessment of unrelated children in the same households or neighborhood environments, and use of measured environmental variables within genetically informative designs, are yielding more incisive evidence of common environmental effects on behavior. What will be next? Behavior genetic techniques and analyses will be used to inform efforts to find genes altering susceptibility for disorder and dispositional genes affecting behavioral variation. The developing integration of behavioral and molecular genetics will identify genes influencing specific behavioral variation and enhance understanding of how they do so. Psychologists will play a pivotal role in communicating that understanding to the public and in facilitating consideration of the inevitable ethical issues then to be confronted.     

A Survey of Patients’ Experiences with the Cancer Genetic Counseling Process: Recommendations for Cancer Genetics Programs

In order to promote ongoing quality improvement of not only the Penn State Cancer Genetics Program, but also other cancer risk assessment programs throughout the country, we developed, piloted and conducted a survey to explore patient expectations, experiences, and satisfaction with the cancer genetic counseling process. The comprehensive survey was mailed to 340 eligible patients, 156 (45.9%) of whom returned the completed survey within the allotted time. Responses to closed-ended questions were tallied and open-ended questions were content analyzed. Major findings show that: (1) Patients were seeking cancer-related information and support throughout the cancer risk assessment process and were interested in participating in available research studies; (2) The setting in which patients are seen for cancer risk assessment may pose potential emotional ramifications; (3) Misperceptions regarding insurance discrimination and lack of insurance coverage persist; (4) Patients view the genetic counselor as responsible for updating them about new discoveries. Specific recommendations for cancer genetics programs are included.     

Précis of Foundations of language: brain, meaning, grammar, evolution

The goal of this study is to reintegrate the theory of generative grammar into the cognitive sciences. Generative grammar was right to focus on the child's acquisition of language as its central problem, leading to the hypothesis of an innate Universal Grammar. However, generative grammar was mistaken in assuming that the syntactic component is the sole course of combinatoriality, and that everything else is "interpretive." The proper approach is a parallel architecture, in which phonology, syntax, and semantics are autonomous generative systems linked by interface components. The parallel architecture leads to an integration within linguistics, and to a far better integration with the rest of cognitive neuroscience. It fits naturally into the larger architecture of the mind/brain and permits a properly mentalistic theory of semantics. It results in a view of linguistic performance in which the rules of grammar are directly involved in processing. Finally, it leads to a natural account of the incremental evolution of the language capacity.     

Imaging or Imagining? A Neuroethics Challenge Informed by Genetics

From a twenty-first century partnership between bioethics and neuroscience, the modern field of neuroethics is emerging, and technologies enabling functional neuroimaging with unprecedented sensitivity have brought new ethical, social and legal issues to the forefront. Some issues, akin to those surrounding modern genetics, raise critical questions regarding prediction of disease, privacy and identity. However, with new and still-evolving insights into our neurobiology and previously unquantifiable features of profoundly personal behaviors such as social attitude, value and moral agency, the difficulty of carefully and properly interpreting the relationship between brain findings and our own self-concept is unprecedented. Therefore, while the ethics of genetics provides a legitimate starting point—even a backbone—for tackling ethical issues in neuroimaging, they do not suffice. Drawing on recent neuroimaging findings and their plausible real-world applications, we argue that interpretation of neuroimaging data is a key epistemological and ethical challenge. This challenge is two-fold. First, at the scientific level, the sheer complexity of neuroscience research poses challenges for integration of knowledge and meaningful interpretation of data. Second, at the social and cultural level, we find that interpretations of imaging studies are bound by cultural and anthropological frameworks. In particular, the introduction of concepts of self and personhood in neuroimaging illustrates the interaction of interpretation levels and is a major reason why ethical reflection on genetics will only partially help settle neuroethical issues. Indeed, ethical interpretation of such findings will necessitate not only traditional bioethical input but also a wider perspective on the construction of scientific knowledge.     

Intuitionist logic — Subsystem of,extension of,or rival to,classical logic?

Strictly speaking, intuitionistic logic is not a modal logic. There are, after all, no modal operators in the language. It is a subsystem of classical logic, not [like modal logic] an extension of it. But... (thus Fitting, p. 437, trying to justify inclusion of a large chapter on intuitionist logic in a book that is largely about modal logics).     

Volume 18 – List of contents,Author index,and List of reviewers, 2012

Negative acknowledgement is an impression management technique that uses the admission of an unfavourable quality to mitigate a negative response. Although the technique has been clearly demonstrated, the underlying process is not well understood. The current research identifies a key mediator and moderator while also demonstrating that the effect extends beyond the specific acknowledged domain to the overall evaluation of a target object. The results of study 1 indicate that negative acknowledgement works through mitigating negatively valenced cognitive responses. People who are presented with a negative acknowledgement are less likely to counterargue when forming an evaluation. The results of study 2 reveal that individual differences in need for structure impact the effectiveness of the technique. People who are high in need for structure are more susceptible to the effect presumably because of their desire for easy-to-use information that aids the formation and maintenance of simple knowledge structures.     

Are measures of self-esteem,neuroticism, locus of control,and generalized self-efficacy indicators of a common core construct?

The authors present results of 4 studies that seek to determine the discriminant and incremental validity of the 3 most widely studied traits in psychology-self-esteem, neuroticism, and locus of control-along with a 4th, closely related trait-generalized self-efficacy. Meta-analytic results indicated that measures of the 4 traits were strongly related. Results also demonstrated that a single factor explained the relationships among measures of the 4 traits. The 4 trait measures display relatively poor discriminant validity, and each accounted for little incremental variance in predicting external criteria relative to the higher order construct. In light of these results, the authors suggest that measures purporting to assess self-esteem, locus of control, neuroticism, and generalized self-efficacy may be markers of the same higher order concept.