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.     

Ethnicity and body dissatisfaction among women in the United States: a meta-analysis

The prevailing view in popular culture and the psychological literature is that White women have greater body dissatisfaction than women of color. In this meta-analysis, 6 main effect sizes were obtained for differences among Asian American, Black, Hispanic, and White women with a sample of 98 studies, yielding 222 effect sizes. The average d for the White-Black comparison was 0.29, indicating that White women are more dissatisfied, but the difference is small. All other comparisons were smaller, and many were close to zero. The findings directly challenge the belief that there are large differences in dissatisfaction between White and all non-White women and suggest that body dissatisfaction may not be the golden girl problem promoted in the literature. Implications for theory and treatment are discussed.     

Vanishing dual-task interference after practice: has the bottleneck been eliminated or is it merely latent?

Practice can, in some cases, largely eliminate measured dual-task interference. Does this absence of interference indicate the absence of a processing bottleneck (defined as an inability to carry out certain stages in parallel)? The authors show that a bottleneck need not produce any observable interference, provided that there is no temporal overlap in the demand for bottleneck stages on the 2 tasks. Such a "latent" bottleneck is especially likely after practice, when central stages are short. The authors provide new evidence that a latent bottleneck occurred for a participant who produced no interference in M. Van Selst, E. Ruthruff, and J. C. Johnston (1999). These findings demonstrate that the absence of dual-task interference does not necessarily indicate the absence of a processing bottleneck.     

Pathways Between Social Support,Family Well Being,Quality of Parenting,and Child Resilience: What We Know

We contribute to the theoretical and research knowledge base regarding the pathways between parental social support, family well being, quality of parenting, and the development of child resilience in families with a child with serious emotional problems. Little conceptual development has been done that provides a theoretical framework for studying the relationships among these variables. We identify key findings from social support theory and research, including the impact of social support on family well being and the parents’ capacity to parent, and the experience of parental social support in families with a child with a disability. We review the constructs of family well being, quality of parenting, and child resilience. Further, we explain the pathways between parental social support, family well being, quality of parenting, and child resilience in families with a child with serious emotional problems. Key variables of the model and the nature of their inter-relationships are described. Social support is constructed as a protective mechanism with main and buffering effects that can impact family well being, quality of parenting, and child resilience at a number of junctures. The conceptual model’s implications for future theory development and research are discussed.     

Comparison of bite-presentation methods in the treatment of food refusal

The current study examined the rate of expulsions and mouth cleans across 3 presentation methods (upright spoon, flipped spoon, Nuk brush) for a 3-year-old girl with a feeding disorder. The participant expelled all bites presented on an upright spoon. Results showed reduced rates of expulsions and increased mouth cleans during the flipped spoon and Nuk brush presentation methods.     

Understanding Processes of Transformative Change: A Qualitative Inquiry into Empowering Sources and Outcomes Identified by Women in Rural Nicaragua

Sex Roles - Despite decades of research on women’s human rights and empowerment across several academic disciplines, inequities between women and men persist at alarming rates across the...     

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing

With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics reports. Consultation with a transdisciplinary group of investigators, including practicing genetic counselors, was sought to ensure broad scope and applicability of these strategies for use with any large-scale genomic testing effort. We preserve the provision of pre-test education and informed consent as established in Mendelian/single-gene disease genetic counseling practice. Following receipt of genomic results, patients are afforded the opportunity to tailor the counseling agenda by selecting the specific test results they wish to discuss, specifying questions for discussion, and indicating their preference for counseling modality. The genetic counselor uses these patient preferences to set the genomic counseling session and to personalize result communication and risk reduction recommendations. Tailored visual aids and result summary reports divide areas of risk (genetic variant, family history, lifestyle) for each disease to facilitate discussion of multiple disease risks. Post-counseling, session summary reports are actively routed to both the patient and their physician team to encourage review and follow-up. Given the breadth of genomic information potentially resulting from genomic testing, this framework is put forth as a starting point to meet the need for scalable genetic counseling services in the delivery of precision medicine.