The Genetic Counselor’s Role in Managing Ethical Dilemmas Arising in the Laboratory Setting

Ethical dilemmas are encountered commonly in the setting of the clinical genetic testing laboratory due to the complexity of genetic testing and the number of relevant stakeholders involved in the genetic testing process. Based on their clinical training and role within the laboratory, genetic counselors are uniquely equipped to identify and facilitate management of ethical dilemmas. This paper reviews the historical context of ethical theory and its application to the field of genetic counseling. Theoretical and applied ethics are explored in the context of dilemmas arising in the laboratory setting, with a focus on the role of the laboratory genetic counselor in managing ethical dilemmas. Two illustrative case examples are provided.     

Explaining the effects of a decision intervention on mammography intentions: The roles of worry,fear and perceived susceptibility to breast cancer

Objective: This study examines the effects of a mammography decision intervention on perceived susceptibility to breast cancer (PSBC) and emotion and investigates how these outcomes predict mammography intentions.

Design: Randomised between-subjects online experiment. Participants were stratified into two levels of risk. Within each stratum, conditions included a basic information condition and six decision intervention conditions that included personalised risk estimates and varied according to a 2 (amount of information: brief vs. extended) × 3 (format: expository vs. untailored exemplar vs. tailored exemplar) design. Participants included 2465 US women ages 35–49.

Main Outcome Measures: PSBC as a percentage, PSBC as a frequency, worry, fear and mammography intentions.

Results: The intervention resulted in significant reductions in PSBC as a percentage for women in both strata and significant increases in worry and fear for women in the upper risk stratum. Of the possible mediators examined, only PSBC as a percentage was a consistent mediator of the effect of the intervention on mammography intentions.

Conclusion: The results provide insight into the mechanism of action of the intervention by showing that PSBC mediated the effects of the intervention on mammography intentions.     

The cognitive underpinnings of emerging mathematical skills: Executive functioning,patterns, numeracy,and arithmetic

Background: Exposure to mathematical pattern tasks is often deemed important for developing children's algebraic thinking skills. Yet, there is a dearth of evidence on the cognitive underpinnings of pattern tasks and how early competencies on these tasks are related to later development. Aims: We examined the domain‐specific and domain‐general determinants of performances on pattern tasks by using (a) a standardized test of numerical and arithmetic proficiency and (b) measures of executive functioning, respectively. Sample: Participants were 163 6‐year‐olds enrolled in primary schools that typically serve families from low to middle socioeconomic backgrounds. Method: Children were administered a battery of executive functioning (inhibitory, switching, updating), numerical and arithmetic proficiency (the Numerical Operations task from the Wechsler Individual Achievement Test‐II), and three types of pattern tasks. Results: Contrary to findings from the adult literature, we found all the executive functioning measures coalesced into two factors: updating and an inhibition/switch factor. Only the updating factor predicted performances on the pattern tasks. Although performance on the pattern tasks were correlated with numerical and arithmetic proficiency, findings from structural equation modelling showed that there were no direct or independent relationships between them. Conclusions: The findings suggest that the bivariate relationships between pattern, numeracy, and arithmetic tasks are likely due to their shared demands on updating resources. Unlike older children, these findings suggest that for 6‐year‐olds, better numerical and arithmetic proficiency, without accompanying advantages in updating capacities, will no more likely lead to better performance on the pattern tasks.     

Mental health of a police force: estimating prevalence of work-related depression in Australia without a direct national measure

The risk of work-related depression in Australia was estimated based on a survey of 631 police officers. Psychological wellbeing and psychological distress items were mapped onto a measure of depression to identify optimal cutoff points. Based on a sample of police officers, Australian workers, in general, are at risk of depression when general psychological wellbeing is considerably compromised. Large-scale estimation of work-related depression in the broader population of employed persons in Australia is reasonable. The relatively high prevalence of depression among police officers emphasizes the need to examine prevalence rates of depression among Australian employees.     

Medthics Graphic Novel

Medthics is an online graphic novel series comprising of six issues (http://www.medthics.com). What is often viewed as pop culture escapism, this "comic book" series tackles the complex world of medicine and its moral/ethical intricacies. From topics about physician identity formation to humane patient care, Medthics brings to the forefront subject matter essential to clinical practice. The art of medicine is depicted through stylized characters as they live their lives through a fictional world inspired by true events.     

The role of associative strength in children's false memory illusions

The effects of associative strength on rates of 7- and 11-year-old children's true and false memories were examined when category and Deese-Roediger-McDermott (DRM) lists were used to cue the same critical lure. Backward associative strength (BAS) was varied such that the category and DRM lists had the same strength (DRM=category), DRM lists had more BAS (DRM>category), or category lists had more BAS (DRM<category). If BAS drives children's false memories then BAS, not the type of relation across items in a list, should determine false memory production. The results confirmed this prediction using both recall and recognition measures: (1) both true and false memories increased with age, (2) true memory was better for category than DRM lists but there were no differences for false memory, and (3) at all ages, false memories varied predictably with changes in BAS but were unaffected by list-type manipulations. These findings are discussed in the context of models of false memory development.     

The Evidence Base for Occupational Therapy in Mental Health: More Systematic Reviews Are Needed

To shape its work, the Research Centre for Occupation & Mental Health is interested in research priorities. Systematic reviews develop an overview of the research available about an intervention, which can provide evidence to underpin practice. They also however, identify gaps in the knowledge base and so are useful for research-prioritization exercises. A rigorous literature search identified only four systematic reviews about occupational therapy in mental health, which suggests that more are needed to underpin practice. This article also explains a six-stage process for conducting a systematic review that can be used by occupational therapists in mental health.     

Using a touch screen paradigm to assess the development of mental rotation between 3½ and 5½ years of age

Mental rotation is an important spatial skill. However, there is controversy concerning its early development and susceptibility to intervention. In the present study, we assessed individual differences in the mental rotation abilities of children between 3½ and 5½ years of age, using a touch screen paradigm to simplify task demands. A figure or its mirror image was presented in 8 different orientations, and children indicated in which of two holes the figure would fit by touching one of the holes on the screen. Task instructions were varied in three conditions, giving the children the opportunity to gather manual or observational experience with rotations of different stimuli, or giving no additional experience. Children’s error rates and response times increased linearly with increasing angular disparity between the figure and the hole by the age of 5 years, but 4-year-olds were found to respond at chance for all angular disparities, despite the use of a touch screen paradigm. Both manual and observational experience increased the response accuracy of 5-year-olds, especially for children already performing well. However, there was no effect on 4-year-olds. Results point to an emerging readiness to use mental rotation and profit from observational and manual experience at age 5.     

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.