Pregnant Women’s Perspectives on Expanded Carrier Screening

Expanded carrier screening (ECS) is a relatively new carrier screening option that assesses many conditions simultaneously, as opposed to traditional ethnicity-based carrier screening for a limited number of conditions. This study aimed to explore pregnant women’s perspectives on ECS, including reasons for electing or declining and anxiety associated with this decision-making. A total of 80 pregnant women were surveyed from Northwestern Medicine’s Clinical Genetics Division after presenting for aneuploidy screening. Of the 80 participants, 40 elected and 40 declined ECS. Trends regarding reasons for electing or declining ECS include ethnicity, desire for genetic risk information, lack of family history, perceived likelihood of being a carrier, and perceived impact on reproductive decisions. Individuals who declined ECS seemed to prefer ethnicity-based carrier screening and believed that ECS would increase their anxiety, whereas individuals who elected ECS seemed to prefer more screening and tended to believe that ECS would reduce their anxiety. These findings provide insight on decision-making with regard to ECS and can help guide interactions that genetic counselors and other healthcare providers have with patients, including assisting patients in the decision-making process.     

Genetic Counselors’ Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability

Expanded carrier screening (ECS), introduced in 2009, identifies carriers for dozens or hundreds of recessive diseases. At the time of its introduction into clinical use, perspectives of the genetic counseling community regarding ECS were unknown. We conducted a survey in early 2012 of GCs and report the results here. They represent a snapshot of opinions and usage at that time, providing a baseline for comparison as the technology continues to evolve and as usage increases. The survey assessed personal perspectives, opinions on clinical implementation and clinical utilization of ECS. The sample included 337 GCs of varying clinical fields, of whom 150 reported practicing in reproductive settings. Our findings demonstrate that, at the time, GCs indicated general agreement with ECS as a concept – for example, most GCs agreed that carrier screening should address diseases outside of current guidelines and also indicated personal interest in electing ECS. There were also disagreements or concerns expressed regarding appropriate pre- and post-test counseling (e.g., the content and delivery mode of adequate informed consent) and practical implementation (e.g., the amount of time available for follow-up care). This was the first quantitative study of a large number of GCs and it revealed initial overall support for ECS among the GC profession. The authors plan to re-administer a similar survey, which may reveal changes in opinions and/or utilization over time. A follow up survey would also allow further exploration of questions uncovered by these data.     

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.     

The Meaning of ‘Good’ and the Possibility of Value

Philosophical Studies - Moore held that to call something good is to ascribe a property to it. But he denied that the property could be expressed in non-evaluative terms. Can one accept this view...     

Spanish- and English-Speaking Pregnant Women’s Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections

The rapid clinical implementation of cell-free DNA (cfDNA) screening, a non-invasive method of prenatal genetic screening, has outpaced research on its social and ethical implications. This study is the first to compare the ethical and practical views of Spanish- and English-speaking pregnant women in the United States about cfDNA screening. Semi-structured interviews were conducted with diverse Spanish- and English-speaking women who had received prenatal care at a large academic medical center. Of the 24 interviewees, ten were Latinas who were interviewed in Spanish; English-language interviews were conducted with seven non-Hispanic Asian and seven non-Hispanic White women. Participants held positive opinions concerning the accuracy of cfDNA screening and often noted that it would enhance preparedness. Participants also expressed concerns about the possibility of inaccurate results and the potentially negative effects of cfDNA screening on the experience of pregnancy. Differences emerged between Spanish and English speakers in their portrayals of their relationships with prenatal health care providers, the extent to which they questioned providers’ advice, their ethical concerns, and their informational needs. We emphasize the importance of customizing prenatal test counseling to the needs of the individual patient, providing educationally appropriate counseling and literature, and mitigating potential language barriers.     

Informing Children of Their Newborn Screening Carrier Result for Sickle Cell or Cystic Fibrosis: Qualitative Study of Parents’ Intentions,Views and Support Needs

Newborn screening for cystic fibrosis and sickle cell disease enables the early identification and treatment of affected children, prolonging and enhancing their quality of life. Screening, however, also identifies carriers. There are minimal or no health concerns for carriers. There are, however, potential implications when carriers reach reproductive age, and thus research attention has been given to how best to convey information about these implications in a meaningful, balanced way which does not raise undue anxieties. Most research focuses on the communication from health professional to parent, yet ultimately this information is of greatest significance to the child. This study examines parents’ intentions to inform their child of newborn screening carrier results. Semi-structured interviews with 67 family members explored their intentions to inform the child, and related views and support needs. Parents almost unanimously indicated they planned to inform the child themselves. Health professionals were expected, however, to provide guidance on this process either to parents through advice and provision of written materials, or directly to the child. Although parents initially stated that they would convey the result once their child had developed the ability to understand the information, many appeared to focus on discrete life events linked to informed reproductive decision making. The results highlight ways in which health care providers may assist parents, including providing written material suitable for intergenerational communication and ensuring that cascade screening is accessible for those seeking it. Priorities for further research are identified in light of the results.     

Practitioners’ Views on the Role of Spirituality in Working With Women Victims and Survivors of Domestic Violence

Based on a study of 1,481 domestic violence workers or practitioners from 180 organizations across 12 countries, this article studies their views on spirituality for domestic violence women victims and survivors. Results showed that spirituality is favored by domestic violence workers, and more so by Christians and those with higher spiritual self-inclination. Subtle variations exist between views of practitioners from European countries, United Kingdom, United States, Canada, and Australia vis-à-vis those from Asian and African countries. Whereas practitioners from the former attested mindfulness, peace, and letting go as spiritual techniques for domestic violence work, Asian and African practitioners were more in favor of practiced distance detachment. In terms of goals of spiritually sensitive interventions, Asian and African practitioners favored letting go and empowered reconciliation, whereas their counterparts favored moving on and detachment. Practitioners from European countries, United Kingdom, United States, Canada, and Australia endorsed ‘letting go’ as a technique of living in the present, with a sense of positive orientation. Spirituality creates spaces in the psychic domains for women to exert their free will and address hegemonic masculinity. Asian and African practitioners saw the potential of spirituality in engendering systems and structures. This calls for a culturally alert approach in deploying spirituality in violence against women work.     

Multiracial Children’s and Adults’ Categorizations of Multiracial Individuals

Research has explored how multiracial individuals are categorized by monoracial individuals, but it has not yet explored how they are categorized by multiracial individuals themselves. We examined how multiracial children (aged 4–9 years old) and adults categorized multiracial targets (presented with and without parentage information). When parentage information was provided, multiracial targets were more likely to be categorized as neither wholly Black nor wholly White. However, both multiracial adults and children more often categorized multiracial targets as Black than as White regardless of the absence or presence of parentage information. For multiracial children, increased contact with White people predicted the tendency to categorize multiracial targets as Black. These data suggest that multiracial children’s categorizations are more flexible than those of monoracial children in previous research and that the tendency to categorize multiracial targets as Black emerges early in development within multiracial samples and is especially likely in predominantly White contexts.     

Genetic Counselors’ Views and Experiences with the Clinical Integration of Genome Sequencing

In recent years, new sequencing technologies known as next generation sequencing (NGS) have provided scientists the ability to rapidly sequence all known coding as well as non-coding sequences in the human genome. As the two emerging approaches, whole exome (WES) and whole genome (WGS) sequencing, have started to be integrated in the clinical arena, we sought to survey health care professionals who are likely to be involved in the implementation process now and/or in the future (e.g., genetic counselors, geneticists and nurse practitioners). Two hundred twenty-one genetic counselors— one third of whom currently offer WES/WGS—participated in an anonymous online survey. The aims of the survey were first, to identify barriers to the implementation of WES/WGS, as perceived by survey participants; second, to provide the first systematic report of current practices regarding the integration of WES/WGS in clinic and/or research across the US and Canada and to illuminate the roles and challenges of genetic counselors participating in this process; and third to evaluate the impact of WES/WGS on patient care. Our results showed that genetic counseling practices with respect to WES/WGS are consistent with the criteria set forth in the ACMG 2012 policy statement, which highlights indications for testing, reporting, and pre/post test considerations. Our respondents described challenges related to offering WES/WGS, which included billing issues, the duration and content of the consent process, result interpretation and disclosure of incidental findings and variants of unknown significance. In addition, respondents indicated that specialty area (i.e., prenatal and cancer), lack of clinical utility of WES/WGS and concerns about interpretation of test results were factors that prevented them from offering this technology to patients. Finally, study participants identified the aspects of their professional training which have been most beneficial in aiding with the integration of WES/WGS into the clinical setting (molecular/clinical genetics, counseling and bioethics) and suggested that counseling aids (to assist them when explaining aspects of these tests to patients) and webinars focused on WES/WGS (for genetic counselors and other health care professionals) would be useful educational tools. Future research should permit us to further enhance our knowledge of pitfalls and benefits associated with the introduction of these powerful technologies in patient care and to further explore the roles and opportunities for genetic counselors in this rapidly evolving field.     

Can Population-Based Carrier Screening Be Left to the Community?

As more genes and mutations are identified in diseases for which particular populations are at increased risk, it is becoming more important to address the social interface between communities and carrier screening. While disproportionately targeted in genetic research, the Orthodox Jewish community often shies away, due to social and religious constraints, from genetic testing and counseling offered by the public health system. The solution is provided by Dor Yeshorim—a program which has become for many a prototype for the successful merging of modern reprogenetic screening and traditional communities. My commentary focuses on the gaps between the rationale and practice of Dor Yeshorim, and the implications of these gaps regarding the trade-off involved in leaving carrier screening to the community. I conclude with a set of questions raised by the implications of the unintended consequences of community genetics.     

Parents’ Understanding of Adopted Children’s Ways of Being,Belonging, and Becoming

Internationally-adopted children experience a range of challenges as they cope with the demands of everyday functioning and strive to develop a healthy identity. Research shows that family context such as parenting practices impact the level of adoptees' adjustment and their eventual identity development. In this study, we examined the process of how relationships are built between Ethiopia adoptees and their adoptive families within the new family setting. Using data obtained through semi-structured interviews, a brief survey, and focus group discussion from 25 North American families who adopted 35 Ethiopia children, we conducted a systematic content analysis to examine parents' way of being, way of understanding, and way of intervening. Based on results of this study, we provide a framework that explains the dynamic of Ethiopian adoptees' existence and belonging from pre- to post-adoption in the adoptive family. Implications for future research regarding the need for multiculturally competent parenting practices and family level strategies to reduce barriers to the child and parent relationship are addressed.     

Romantic Relationships and Health: An Examination of Individuals’ Perceptions of their Romantic Partners’ Influences on their Health

This study examines individuals’ perceptions of the impact their significant others have on their health and the extent to which these perceptions are associated with relationship quality and actual health. Two-hundred and ten participants (105 U.S. couples; mean age = 24.93) completed measures of their relationship quality and health along with an open-ended measure asking them to indicate how they felt their partner influenced their health. Results indicated that participants perceived their romantic partners to be primarily positive health influences, women believed their partners were more influential than did men, and eating and physical activity behaviors were believed to be most affected by partners. Participants’ relationship quality and health were associated with their reports of their perceived partners’ health influences. The research described in this report was supported by an award to Charlotte Markey from Rutgers University.     

A Material and Practical Account of Education in Digital Times: Neil Postman’s Views on Literacy and the Screen Revisited

In this article I deal with the impact of digitization on education by revisiting the ideas Neil Postman developed in regard with the omnipresence of screens in the American society of the 1980s and their impact on what it means to grow up and to become an educated person. Arguing, on the one hand, that traditionally education is profoundly related to the initiation into literacy, and on the other hand, that the screen may come to replace the book as the prevailing educational medium, Postman’s theses are worth reconsidering. Moreover I propose to develop further one strain of thought in Postman’s work, viz. the interconnectedness of technological inventions, material practices and ideas regarding what education is all about. As such I analyse in great detail the differences between traditional and digital literacy by looking from a material and practical perspective at how we relate to books and screens. This is not a normative analysis, but one that aims at fleshing out differences in spaces of experience. As such I wind up with suggestions regarding the affordances that a new form of literacy, no longer based on the model of the book, might bring about.     

Estimates of the Validity and Utility of the Conners’ Continuous Performance Test in the Assessment of Inattentive and/or Hyperactive-Impulsive Behaviors in Children

This study evaluated the validity and classification utility of the Conners' Continuous Performance Test (CCPT) in the assessment of inattentive and hyperactive-impulsive behaviors in children. Significant, positive correlations between the CCPT parameters and behavioral ratings of ADHD behaviors were hypothesized. In addition, it was hypothesized that the CCPT parameters would perform better than a random test (chance) and show fair to moderate utility of classification across the different indices. Participants were 104 children between 6 and 12 years of age who were referred for evaluation of attention problems. The first hypothesis was not supported. There were no significant, positive correlations between the CCPT parameters and parent and teacher ratings of inattentive and hyperactive-impulsive behaviors. The second hypothesis was only partially supported. The CCPT Overall Index and the Omission Errors (84th percentile cutoff) performed better than a random test; however, the utility of the CCPT Overall Index only ranged from poor to slight. Receiver operating characteristic analyses showed the accuracy of the CCPT to be low. The implications and limitations of this study and future research directions are discussed.     

Hong Kong’s Parents’ Views on Sex,Marriage, and Homosexuality

Sex education in schools has had a slow start in Hong Kong. Research has shown that many young people are dissatisfied with the inadequacy of existing sex education. This research used a survey to explore Hong Kong parents’ views on topics related to sex, marriage, and homosexuality, and when these topics should be taught. Altogether, 12 schools participated in the study. The results show that parents were reluctant to have schools discuss love and courtship with secondary students. Parents were more willing to have their children educated about the use of contraceptives and homosexuality as early as primary school. Parents expressed serious reservations about their children developing homosexual lifestyles and entering same-sex marriages. We also found differences in parents’ views with respect to age, education attained, and religion. Findings of this study were discussed with reference to future research directions and to strengthen Hong Kong parents’ contribution to the design of sex education.     

Small and negligible? Evidence on the Relation Between Individuals’ Power in the Job Situation and their Satisfaction with Life and Job

Experimental research suggests that high power and leadership result in the experience of more positive and less negative emotions. Extending these findings of experimental manipulations, we investigated relations between power and subjective well-being in a representative national survey. Defining power as the capability to administer resources or punishments, we inferred power from the number of people whom respondents supervise in their job. The results reflect a very small relation between this operationalization and individuals’ life and job satisfaction. The results suggest that prior experimental findings on the relation between power and satisfaction judgments cannot be applied directly to job situations.     

Cerebral Specialization and the Control of Oral and Limb Movements for Individuals With Down’s Syndrome

In this paper we review existing research on cerebral specialization in Down’s syndrome (DS) individuals, and we present a preliminary model. The model proposes that the cerebral organization of DS persons is such that there is a dissociation of brain areas responsible for speech perception and the production of complex movement including speech. Research is presented that confirms some initial predictions of the model.     

Commentary on ‘mentoring and the impact of the research climate’

Conclusions First of all, I would like to commend Roberts and colleagues for taking on a difficult but very important topic. It would be valuable if someone could follow up with a broader sample of universities and laboratories — paying careful attention to possible sampling and non-sampling errors. In general, I recommend that mentors explicitly both learn and teach ethical theory and practice within the context of their scientist development programs. Finally, while it is important to emphasize sound and ethical research standards and processes in mentoring programs, this should not be at the expense of an appropriate emphasis on skills essential to professional competitiveness, such as responsible, effective publication, grant winning, and demonstrably strong performance on the grants won. Dr. Gardenier is a survey statistician at the National Center for Health Statistics of the Centers for Disease Control and Prevention. The views presented are his personal opinions only.