Impact of a Patient-Facing Enhanced Genomic Results Report to Improve Understanding,Engagement, and Communication

“The objective of this study was to” test the effectiveness of an enhanced genomic report on patient-centered outcome domains including communication, engagement and satisfaction. “Study design utilized” a prospective, randomized, mixed-methods desctiptive study of a whole genome sequencing results report, GenomeCOMPASS?, that was accessed by providers through the electronic health record and by patients through the associated patient portal. “The study was set in” an integrated healthcare delivery system in central Pennsylvania. “Eighty-four” parents of 46 children with undiagnosed Intellectual Disability, Autism Spectrum Disorder and/or multiple congenital anomalies who had participated in a previous study offering whole genome sequencing for their affected child were invited to enroll. Fifty-two parents enrolled. Following a traditional genetics results informing visit, the study coordinator stratified families by diagnostic result and uninformative result and then randomized families within each group to an intervention arm to receive the GenomeCOMPASS? report or to the usual care arm to receive a summary letter from the medical geneticist. A letter inviting enrollment included a baseline survey, which once returned, constituted enrollment. Surveys were administered at 3 months post-genetics visit. At 6 months, the usual care arm crossed over to receive the intervention and were administered an additional survey at 3 months. Qualitative interviews were conducted following survey completion to augment the survey data regarding the patient centered outcomes of interest. Patient reported outcomes including communication, engagement, empowerment and satisfaction. In the intervention arm, GenomeCOMPASS? reports were released to 14 families (N?=?28 parents) and of those 21 (75%) returned 3 month surveys. In the usual care arm, 12 families (N?=?24 parents) received usual care summary letters and of those 20 (83%) returned 3 month surveys. At crossover, GenomeCOMPASS? reports were released to 20 individuals and 15 (75%) returned 3 month surveys. Qualitative interviews were conducted with 5 individuals. Use of the GenomeCOMPASS? report was reported by this small group of parents to improve communication with providers and non-health professionals such as educators and therapists and led to increased engagement and high satisfaction. Providers and others involved in the children’s care also endorsed the report’s effectiveness. Reports that addressed negative findings, i.e. uninformative results, were not found to be useful. Although the number of users was small, this study supports that customizable template reports may provide a useful and durable source of information that can support and enhance the information provided by genetics professionals in traditional face-to-face encounters. Trial registration: Clinicaltrials.gov (Record 2013–0594).     

Close Encounters With the Midwest: Forming Identity in a Bicultural Context

This study uses semi-structured interviews to examine how 16 people of Latvian heritage negotiated their cultural identities in high school (retrospectively) and at midlife (concurrently). Participants' high school and midlife cultural identity patterns were coded as marginalized, separated, assimilated, alternating integrated, or blended integrated. Although eleven participants were found to have had marginalized, separated, or alternating integrated patterns in high school, all 16 had either assimilated or blended integrated patterns at midlife. Further, there is evidence that the contexts in which identity negotiation occurred—specifically, the rigidity of the participants' Latvian and American contexts in high school and their relative openness at midlife—influenced these changes in pattern. The findings also underscore the importance of taking into account within-group differences when studying how people negotiate their cultural identities.     

What Factors Influence Therapy Drop Out?

Are there systematic factors that predict client drop out in marriage and family therapy? Based on our review of literature we investigated the influence on drop out of personality characteristics such as hostility, anxiety, satisfaction with life, and self-esteem. We also investigated several demographic variables. The following variables were statistically significant predictors of client drop out: modality of treatment, marital status, occupation, income, and previous therapy experience.     

Does spatial learning ability of common voles (<Emphasis Type="Italic">Microtus arvalis</Emphasis>) and bank voles (<Emphasis Type="Italic">Myodes glareolus</Emphasis>) constrain foraging efficiency?

Place learning abilities represent adaptations that contribute also to foraging efficiency under given spatio-temporal conditions. We investigated if this ability in turn constrains decision making in two sympatric vole species: while the herbivorous common vole (Microtus arvalis) feeds on spatio-temporally predictable food resources (e.g. roots, tubers and shoots of plant tubers), the omnivorous bank vole (Myodes glareolus) additionally subsists on temporally unpredictable food resources (e.g. insects and seeds). Here, we compare the spatial reference memory and working memory of the two species. In an automated operant home cage with eight water places, female voles either had to learn the fixed position of non-depletable places (reference memory task) or learn and avoid previously visited water places depleted in a single visit (win-shift task). In the reference memory task, Microtus females required significantly more choices to find all water places, initially performed slightly worse than Myodes females, and displayed slightly lower asymptotic performance. Both species were highly similar in new learning of the same task. In the more complex win-shift task, asymptotic performance was significantly lower in Microtus (72% correct) than in Myodes (79%). Our results suggest that both vole species resemble each other in their efficiency to exploit habitats with low spatio-temporal complexity but may differ in their efficiency at exploiting habitats with temporally changing spatial food distributions. The results imply that spatial ability adjusted to specific food distributions may impair flexible use of habitats that differ in their food distribution and therefore, decrease a species’ chances of survival in highly dynamic environments.     

Phases of Organ Integration and Conflict in a Transplant Recipient: A Longitudinal Study Using a Diary

In this paper the results from a research project on self-perception and psychological processing following transplantation of solid organs are presented. A diary at the individual case level was introduced to generate a longitudinal analysis. In the following paper we describe an evaluation of the entries of a single patient following a living donor kidney transplant. Conflicts in the relationship between the transplant recipient and the donor, who is also his wife, are clearly evident, and these are interpreted as incorporation conflicts in light of current psychoanalytic theory.     

Family climate of routine asthma care: associating perceived burden and mother-child interaction patterns to child well-being

This preliminary report links the literatures on family asthma management practices and on the characteristics of family interaction patterns thought to influence children's adjustment to a chronic physical illness. Specifically, this study of 60 families with a child with asthma examined the extent to which perceived burden of routine asthma care affected child mental health via its influence on parent-child interaction patterns. Mothers completed a measure of asthma management routine burden, mother and child were observed in a 15-minute interaction task, and children completed measures of child anxiety and asthma quality of life (QOL). Perceived routine burden significantly predicted child anxiety and QOL through its effect on mother-child rejection/criticism. The same pattern did not hold for mother intrusiveness/control. The results are discussed in terms of how overall family climate and regulation of routines affects child well-being. Implications for clinical practice and limitations of the study are provided.     

Backward walking: a simple reversal of forward walking?

The purpose of this study was to determine whether backward walking represented a simple temporal reversal of forward walking and, hence, could be controlled by a reversed cycling of the same group of neurons. Electromyographic (EMG), joint angle, joint moment, and joint muscle power patterns were compared for forward and backward walking, in 6 subjects. The joint angle patterns with the time-base of the backward walking reversed were similar, with the exception of the ankle. The moment patterns were similar except for the knee, whereas the joint muscle powers were almost reversed-polarity images of each other. This suggests that somewhat similar muscle activation patterns could be used to produce both modes of locomotion, but the temporal cycling of muscle contraction would be reversed: Concentric muscle activity in forward walking would become eccentric activity in backward walking, and visa versa. The EMG results generally supported these findings.     

Biomechanical motor patterns in normal walking

Motor patterns in normal human gait are evident in several biomechanical and EMG analyses over the stride period. Some of these patterns are invariant over the stride period with changes of cadence, whole others are closely correlated with speed changes. The findings for slow, natural, and fast walking are summarized: 1. Joint angle patterns over the stride period are quite invariant, and do not change with cadence; 2. Moment of force patterns at the ankle are least variable and quite consistent at all speeds; 3. A recently defined support moment is quite consistent at all speeds. 4. Moments at the knee and hip are highly variable at all cadences but decrease their variability as cadence increases; 5. Mechanical power patterns at all joints show consistent timing over the stride period; 6. EMG profiles of 5 muscles show consistent timing over the stride, but the amplitude increases as walking speed increases. Arguments are presented to support the concept that walking speed is largely controlled by gain and that the timing of the motor patterns, which is extremely tightly synchronized with the anatomical position, is under major afferent control.