Genetic Counselors’ Perspectives About Cell-Free DNA: Experiences,Challenges, and Expectations for Obstetricians

The expansion of cell-free fetal DNA (cfDNA) screening for a larger and diverse set of genetic variants, in addition for use among the low-risk obstetric population, presents important clinical challenges for all healthcare providers involved in the delivery of prenatal care. It is unclear how to leverage the different members of the healthcare team to respond to these challenges. We conducted interviews with 25 prenatal genetic counselors to understand their experience with the continued expansion of cfDNA screening. Participants supported the use of cfDNA screening for the common autosomal aneuploidies, but noted some reservations for its use to identify fetal sex and microdeletions. Participants reported several barriers to ensuring that patients have the information and support to make informed decisions about using cfDNA to screen for these different conditions. This was seen as a dual-sided problem, and necessitated additional education interventions that addressed patients seeking cfDNA screening, and obstetricians who introduce the concepts of genetic risk and cfDNA to patients. In addition, participants noted that they have a professional responsibility to educate obstetricians about cfDNA so they can be prepared to be gatekeepers of counseling and education about this screening option for use among the general obstetric population.     

Bayesian active probabilistic classification for psychometric field estimation

Psychometric functions are typically estimated by fitting a parametric model to categorical subject responses. Procedures to estimate unidimensional psychometric functions (i.e., psychometric curves) have been subjected to the most research, with modern adaptive methods capable of quickly obtaining accurate estimates. These capabilities have been extended to some multidimensional psychometric functions (i.e., psychometric fields) that are easily parameterizable, but flexible procedures for general psychometric field estimation are lacking. This study introduces a nonparametric Bayesian psychometric field estimator operating on subject queries sequentially selected to improve the estimate in some targeted way. This estimator implements probabilistic classification using Gaussian processes trained by active learning. The accuracy and efficiency of two different actively sampled estimators were compared to two non-actively sampled estimators for simulations of one of the simplest psychometric fields in common use: the pure-tone audiogram. The actively sampled methods achieved estimate accuracy equivalent to the non-actively sampled methods with fewer observations. This trend held for a variety of audiogram phenotypes representative of the range of human auditory perception. Gaussian process classification is a general estimation procedure capable of extending to multiple input variables and response classes. Its success with a two-dimensional psychometric field informed by binary subject responses holds great promise for extension to complex perceptual models currently inaccessible to practical estimation.

     

Should I stay or should I go?: Penalties for briefly de-prioritizing work or childcare

We examined penalties against individuals who temporarily de-prioritize their employee or parenting role. Experiment 1 (N = 488) utilized vignettes depicting a mother/father who briefly left their child with a babysitter to engage in work/self-care/did not leave (control). Both mothers and fathers were viewed as less parentally competent, likeable, dedicated to their family (and putting their child at greater risk) when they very briefly de-prioritized their caregiving role by leaving their child for either reason, relative to controls. Experiment 2 (N = 494) utilized vignettes depicting a female/male employee who briefly left work to engage in childcare/self-care/did not leave (control). Both male and female employees were rated as less professionally competent, likeable, dedicated to their work and deserving of organizational rewards (and more deserving of organizational penalties, and putting their organization at greater risk) when they very briefly de-prioritized their employee role by leaving work for either reason, compared to controls. However, employees who left for self-care were viewed more negatively than those who left to engage in childcare. Unexpectedly, results did not reveal target gender differences; they were also largely unaffected by participant gender. This suggests that parents and employees face penalties when they must de-prioritize either of these important roles for even very short periods. Implications for well-being, work-life balance, and productivity are discussed.     

Recall is not necessary for verbal sequence learning

The question of whether overt recall of to-be-remembered material accelerates learning is important in a wide range of real-world learning settings. In the case of verbal sequence learning, previous research has proposed that recall either is necessary for verbal sequence learning (Cohen & Johansson Journal of Verbal Learning and Verbal Behavior, 6, 139–143, 1967; Cunningham, Healy, & Williams Journal of Experimental Psychology: Learning, Memory, and Cognition, 10, 575–597, 1984), or at least contributes significantly to it (Glass, Krejci, & Goldman Journal of Memory and Language, 28, 189–199, 1989; Oberauer & Meyer Memory, 17, 774–781, 2009). In contrast, here we show that the amount of previous spoken recall does not predict learning and is not necessary for it. We suggest that previous research may have underestimated participants’ learning by using suboptimal performance measures, or by using manual or written recall. However, we show that the amount of spoken recall predicted how much interference from other to-be-remembered sequences would be observed. In fact, spoken recall mediated most of the error learning observed in the task. Our data support the view that the learning of overlapping auditory–verbal sequences is driven by learning the phonological representations and not the articulatory motor responses. However, spoken recall seems to reinforce already learned representations, whether they are correct or incorrect, thus contributing to a participant identifying a specific stimulus as either “learned” or “new” during the presentation phase.     

Social Network Characteristics,Social Support,and Cigarette Smoking among Asian/Pacific Islander Young Adults

Cigarette smoking may be one of the factors contributing to the high levels of cancer‐related mortality experienced by certain Asian/Pacific Islander (A/PI) subgroups (e.g., Native Hawaiian). Given the collectivist cultural orientation attributed to A/PI groups, social strategies are recommended for substance abuse or smoking cessation treatment among A/PI. However, research examining how social network characteristics and social support relate to smoking across A/PI subgroups has been lacking. This study investigated the associations between social network characteristics (e.g., size, composition), perceived social support, and recent cigarette use across Native Hawaiian, Filipino, and East Asian (e.g., Japanese, Chinese) young adults (18–35 year old). Cross‐sectional, self‐report data were collected from N = 435 participants (M age = 25.6, SD = 8.3; 61% women). Ethnic differences were found in a number of pathways linking social network characteristics, perceived social support, and cigarette smoking. Larger network size was strongly associated with higher perceived social support and lower recent cigarette smoking among Native Hawaiians but not Filipinos or East Asians. Higher perceived social support was associated with lower recent smoking among East Asians and Filipinos but not Native Hawaiians. Implications are discussed with regard to smoking prevention and cessation among A/PI.     

Social Cognition in Multiple Sclerosis: a Meta-Analysis

Multiple sclerosis (MS) is associated with cognitive decline and impairment in social functioning. Accumulating evidence suggests that patients with MS are impaired in social cognition, including theory of mind (ToM) and emotion recognition. In this meta-analysis of 24 studies, facial emotion recognition and ToM performances of 989 patients with MS and 836 healthy controls were compared. MS was associated with significant impairments with medium effect sizes in ToM (d?=?0.57) and facial emotion recognition (d?=?0.61). Among individual emotions recognition of fear and anger were particularly impaired. The severity of social cognitive deficits was significantly associated with non-social cognitive impairment. These deficits in social cognition may underpin difficulties in social functioning in MS. However, there is a need for further studies investigating the longitudinal evolution of social cognitive deficits and their neural correlates in MS.     

Does Lack of “Genetic-Relative Family Health History” Represent a Potentially Avoidable Health Disparity for Adoptees?

Many adoptees face a number of challenges relating to separation from biological parents during the adoption process, including issues concerning identity, intimacy, attachment, and trust, as well as (for older adopted children) language and other cultural challenges. One common health challenge faced by adoptees involves lack of access to genetic-relative family health history (GRFHx). Lack of GRFHx represents a disadvantage due to a reduced capacity to identify diseases and recommend appropriate screening for conditions for which the adopted person may be at increased risk. In this article, we draw out common features of traditionally understood “health disparities” in order to identify analogous features in the context of adoptees’ lack of GRFHx.     

Effects of reward magnitude and training frequency on the learning rates and memory retention of the Port Jackson shark Heterodontus portusjacksoni

Animal Cognition - The development of adaptive responses to novel situations via learning has been demonstrated in a wide variety of animal taxa. However, knowledge on the learning abilities of one...