Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

Lysosomal storage diseases (LSDs), lysosomal enzyme deficiencies causing multi-system organ damage, have come to the forefront in newborn screening (NBS) initiatives due to new screening technologies and emerging treatments. We developed a qualitative discussion tool to explore opinions of genetic healthcare providers (HCPs) regarding population-based NBS for MPS types 1 and 2, Pompe, Gaucher, Fabry, and Krabbe diseases. Thirty-eight telephone interviews conducted by a single researcher were analyzed and coded for thematic trends. Six major themes emerged: 1) treatment availability and efficacy is crucial; 2) early age of disease onset is important; 3) ambiguity regarding prognosis is undesirable; 4) parents’ ability to make reproductive decisions is seen by some as a benefit of NBS; 5) paucity of resources for follow-up exists; and 6) the decision-making process for adding conditions to mandated NBS is concerning to HCPs. Among the LSDs discussed, Pompe was considered most appropriate, and Krabbe least appropriate, for NBS. MPS1 and MPS2 were overall considered favorably for screening, but MPS1 ranked higher, due to a perception of better efficacy of therapeutic options. Fabry and Gaucher diseases were viewed less favorably due to later age of onset. The themes identified in this study must be addressed by decision-makers in expanding NBS for LSDs and may be applied to many diseases being considered for NBS in the future.     

Hispanic Infants with Cystic Fibrosis Show Low CFTR Mutation Detection Rates in the Illinois Newborn Screening Program

States develop specific protocols for cystic fibrosis (CF) newborn screening to reflect the population served. We hypothesized that mutation distribution and detection rates would differ between Hispanic and non-Hispanic CF patients diagnosed by IL newborn screen with more Hispanic infants carrying mutations not detected by the state panel. Data from CF cases diagnosed via newborn screen in IL between 3/1/2008 and 10/31/2010 were reviewed. More Hispanic infants with CF had one or more undefined mutations after screening, in comparison to non-Hispanic Caucasian patients (40% vs. 9.5%; p?相似文献   

Screening and Assessing Adolescent Substance Abuse: A Primer for Counselors

Adolescent substance abuse is an increasing problem in US. society. This article provides an overview of adolescent substance abuse, screening, and assessment strategies; contact information related to specific assessment instruments; and information regarding ethics important to consider during the assessment process.     

Public Policy and Public Opinion Toward Sex Education and Birth Control for Teenagers

That government policy toward provision of sex education and contraception for adolescents may be influenced by public opinion is reflected in the fact that recent program formulation appears to follow the conventional wisdom of a general conservative shift among the American public, i.e., recent policy toward adolescent pregnancy is conservative in the sense of being reactive rather than preventive. A cheek on the validity of this conventional wisdom was accomplished by integrating available data on public opinion toward sex education and brth control services for teenagers. These data reveal an upward trend in public approval of such services for adolescents that runs counter to the conventional wisdom. This is because the conventional wisdom is not firmly supported by the available data on American opinions and values which demonstrate that the overall movement in attitudes decisively contradicts the idea of a simple conservative swing. Provision of more and better contraceptive services and sex education to teenagers is an important policy goal that would lower the incidence of adolescent pregnancy and would be supported by the American people.     

Newborn Screening: Education,Consent, and the Residual Blood Spot. The Position of the National Society of Genetic Counselors

Newborn screening (NBS) is a minimally invasive lifesaving test. There is currently no federal mandate for NBS, thus states determine their own screening panel based on the recommendations of the Secretary’s Advisory Committee on Heritable Disorders in Newborn and Children (SACHDNC), which was recently re-chartered as the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC). After NBS is completed, a couple of residual blood spots remain. While some states allow these spots to be used for public health and scientific research purposes, parents are not always informed about these additional uses. This paper addresses the National Society of Genetic Counselors’ (NSGC’s) position about NBS and blood spot storage/use and the rationale for these positions. The National Society of Genetic Counselors strongly supports newborn screening for the uniform screening panel of conditions recommended by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. NSGC also supports storage and use of blood spot samples by newborn screening laboratories and transparent policies that govern these activities.     

关于开发“互联网宗教舆情研判系统”的思考

如何以理念、价值和原则为导向,把握技术的运用、规制技术的边界,是互联网宗教舆情研判至为重要的落脚点。从整体上看,"互联网宗教舆情研判系统"至少要包括智能化的数据采集、分析、呈现与干预等4个环节。以下从每个环节的需求起点、技术对接以及具体案例的技术流程等方面作一简略介绍。     

Monitoring the Opinion of the Crowd: Psychological Mechanisms Underlying Public Opinion Perceptions on Social Media

Social media technologies offer several features that allow users to monitor other people’s opinions on public issues. Initial research showed that user-generated content can shape recipients’ perceptions of the majority opinion on societal problems. Still, it remains largely unexplored under which circumstances people gauge other users’ opinions through social media and whether perceived opinion climates affect people’s opinions and communication behavior in these environments. Results of a two-session experiment revealed that people’s fear of isolation sharpens their attention toward user-generated comments on Facebook which, in turn, affect recipients’ public opinion perceptions. The latter influenced subjects’ opinions and their willingness to participate in social media discussions. These findings are discussed in light of the spiral of silence theory and the social projection hypothesis.     

Women's Agency in a Context of Oppression: Assessing Strategies for Personal Action and Public Policy

Popular debates about “victim feminism” have receded but underlying concerns about the extent of gender inequality and usefulness of strategies highlighting difference are still relevant. This paper applies Susan Wendell's framework—relating to women's agency under conditions of oppression—to the experience of women firefighters. The framework fits well, but one case reveals the need to modify it by attending to community. An elaboration of the framework is then used to examine four policy issues.     

A Tailored Approach to Family-Centered Genetic Counseling for Cystic Fibrosis Newborn Screening: The Wisconsin Model

This article describes the development of a tailored family-centered approach to genetic counseling following abnormal newborn screening (NBS) for cystic fibrosis (CF). A genetic counseling consortium reviewed research literature, selected theoretical frameworks, and incorporated counseling psychology micro skills. This innovative intervention integrated theories and empirically validated techniques. Pilot testing and parent feedback confirmed satisfaction with and feasibility of the approach designed to (a) minimize parents’ distress, (b) facilitate parents’ understanding, (c) increase parents’ capacities to use genetic information, and (d) enhance parents’ experiences with genetic counseling. Counselors engage in a highly interactive process of evaluating parents’ needs and tailoring assessments and interventions that include a therapeutic environment, the family’s emotional needs, parents’ informational needs, and a follow-up plan. This promising new model is the first to establish a theory-driven, evidence-based standard for genetic counseling in the context of NBS for CF. Additional research will evaluate the model’s efficacy in clinical practice.     

孕产妇意向对新生儿疾病筛查可及性的影响评价

采用问卷调查的方法对244名孕产妇进行了意向调查,通过了解需方对新生儿疾病筛查的认知、满意度等,对其可及性的作用,寻找潜在的促进和阻碍新生儿疾病筛查开展的种种影响因素,为我国今后更好地开展疾病筛查提供借鉴.     

Gender Attitudes and Public Opinion Towards Electoral Gender Quotas in Brazil

Research on public opinion towards affirmative action shows that citizens often support the principle of equality while simultaneously rejecting policies that promote it in a pattern described as the “principle-policy puzzle.” The scholarship also shows that ideology and prejudice towards the targeted group explain the puzzle with respect to racial affirmative action. In this article, we use unique survey questions included in the 2014 round of the AmericasBarometer in Brazil to show that citizens tend to support electoral gender quotas while rejecting gender-based egalitarianism in a reversed version of the “principle-policy puzzle.” We argue that a different type of gender attitudes, namely benevolent sexism, shapes support for gender quotas as well as for the principle of equality. While benevolent sexists tend to reject gender equality based on views about gender complementarity and stereotypes about women's purity, they also support quotas as policies to foster such values. Our findings suggest that even though the political and scholarly debates can provide sound normative reasons for the adoption of quotas across different contexts, public support for them often relies on paternalistic views and expectations about the role of women in politics.     

Assessing Person-Organization Fit in Personnel Selection: Guidelines for Future Research

In response to theory and research suggesting that positive individual and organizational outcomes are associated with person-organization fit, there is growing interest in the use of personnel selection practices to achieve fit between individuals and organizations. Research is needed to confirm the value of assessing applicant-organization fit in the selection process and to test alternative approaches for measuring the match between applicants and organizations. This article provides guidance for future research on the assessment of applicant-organization fit. Criteria for assessing applicant-organization fit are indentified and four techniques for assessing fit are then evaluated in the light of these criteria. In addition, the article identifies issues that should be addressed in future research on applicant-organization fit.     

Public Opinion and Political Philosophy: The Relation between Social-Scientific and Philosophical Analyses of Distributive Justice

This paper considers the relation between philosophical discussions of, and social-scientific research into popular beliefs about, distributive justice. The first part sets out the differences and tensions between the two perspectives, identifying considerations which tend to lead adherents of each discipline to regard the other as irrelevant to its concerns. The second discusses four reasons why social scientists might benefit from philosophy: problems in identifying inconsistency, the fact that non-justice considerations might underlie distributive judgments, the way in which different principles of justice can yield the same concrete distributive judgments, and the ambiguity of key terms. The third part distinguishes and evaluates three versions of the claim that normative theorising about justice can profit from empirical research into public opinion: that its findings are food for thought, that they amount to feasibility constraints, and that they are constitutive of normatively justified principles of justice. The view that popular opinion about justice has a strongly constitutive role to play in justifying principles of distributive justice stricto sensu is rejected, but it is argued that what the people think (and what they can reasonably be expected to come to think) on distributive matters can be an important factor for the political theorist to take into account, for reasons of legitimacy, or feasibility, or both.