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Aim: Maximizing the utility and equity of genomic sequencing integration in clinical care requires engaging patients, their families, and communities. The NCGENES 2 study explores the impact of engagement between clinicians and caregivers of children with undiagnosed conditions in the context of a diagnostic genomic sequencing study. Methods: A Community Consult Team (CCT) of diverse parents and advocates for children with genetic and/or neurodevelopmental conditions was formed. Results: Early and consistent engagement with the CCT resulted in adaptations to study protocol and materials relevant to this unique study population. Discussion: This study demonstrates valuable contributions of community stakeholders to inform the implementation of translational genomics research for diverse participants.

Background To obtain information on feasibility and acceptability, as well as preliminary data on efficacy, of an Osteoarthritis Physical activity Care Pathway (OA-PCP). Methods This was a single group pilot study involving 60 participants with symptomatic, physician diagnosed knee or hip OA, recruited from primary care clinics. Participants self-reported completing less than 150 min per week of moderate-to-vigorous physical activity (MVPA) at baseline. The 3-month OA-PCP intervention involved 3 physical activity (PA) coaching calls (focused on goal setting), three check-in emails and linkage with community-based or online resources to support PA. Efficacy outcomes were collected at baseline and 4-month follow-up. The primary efficacy outcome was minutes of MVPA, assessed via accelerometer. Secondary outcomes included minutes of light intensity activity, sedentary minutes, step counts, and Western Ontario and McMaster Universities (WOMAC) pain and function subscales. Participants were also asked to rate the helpfulness of the OA-PCP intervention on a scale of 0–10. Differences in efficacy outcomes between baseline and 4-month follow-up were assessed using paired t-tests. Results Among participants beginning the study, 88% completed follow-up assessments and ≥ 90% completed each of the intervention calls. Average daily minutes of MVPA was 8.0 at baseline (standard deviation (SD) = 9.9) and 8.9 at follow-up (SD = 12.1, p = 0.515). There were no statistically significant changes in light intensity activity, sedentary time or step counts. The mean WOMAC pain score improved from 8.1 (SD = 3.6) at baseline to 6.2 (SD = 3.8) at follow-up (p Conclusions Results supported the feasibility and acceptability of the study, and participants reported clinically relevant improvements in pain and function. PA metrics did not improve substantially. Based on these results and participant feedback, modifications including enhanced self-monitoring are being made to increase the impact of the OA-PCP intervention on PA behavior. Trial registration NCT03780400, December 19, 2018.

PURPOSE: As exome and genome sequencing (ES, GS) enters the clinic, there is an urgent need to understand the psychological effects of test result disclosure. Through a Clinical Sequencing Exploratory Research (CSER), phase 1 (CSER1) consortium collaboration, we evaluated participants’ psychological outcomes across multiple clinical settings. METHODS: We conducted a random effects meta-analysis of state anxiety (Hospital Anxiety and Depression Scale (HADS)/ Generalized Anxiety Disorder-7 item), depressive symptoms (HADS/ Personal Health Questionnaire-9 item), and multi-dimensional impact (i.e., test-related distress, uncertainty and positive impact: modified Multidimensional Impact of Cancer Risk Assessment/ Feelings About Genomic Testing Results scale). RESULTS: Anxiety and depression did not increase significantly following test result disclosure. Meta-analyses examining mean differences from pre- to post-disclosure revealed an overall trend for a decrease in participants’ anxiety. We observed low levels of test-related distress and perceptions of uncertainty in some populations (e.g., pediatric patients) and a wide range of positive responses. CONCLUSION: Our findings across multiple clinical settings suggest no clinically significant psychological harms from the return of ES/GS results. Some populations may experience low levels of test-related distress or greater positive psychological effects. Future research should further investigate the reasons for test-related psychological response variation.

OBJECTIVE Psychological adaptation is an important but understudied outcome among patients who undergo DNA evaluation to identify a cause of an unexplained health condition. This longitudinal study examines the relationship between the degree to which participants' hopes for diagnostic genomic sequencing were fulfilled and their psychological adaptation to their sequencing results over time. METHOD Secondary analyses were conducted on data from a subset of adult participants from the North Carolina Clinical Genomic Evaluation by Next-Generation Exome Sequencing study with physical health conditions of suspected genetic etiology (such as neurological disorders or cancer; n = 192). Hope fulfillment and type of hope (hopes related to personal-family health implications vs. hoping to help others-advance science) were assessed as predictors of change in psychological adaptation (Psychological Adaptation Scale) and 4 subscales (coping efficacy, self-esteem, social integration, spiritual-existential well-being), from 2 weeks to 6 months after disclosure of genomic sequencing results. RESULTS Controlling for covariates, degree of hope fulfillment was associated with increased general psychological adaptation (β = .14, p = .02), social integration (β = .17, p = .01), and spiritual-existential well-being (β = .15, p = .02). Type of hope did not modify effects of degree of hope fulfillment on adaptation outcomes. CONCLUSIONS The degree to which patients' genomic sequencing-related hopes are fulfilled may be an important driver of long-term psychological adaptation after genomic sequencing. Evaluating the degree to which patients' hopes are fulfilled may allow clinicians to gain insight into the likely trajectory for patient adaptation after learning their results from genomic sequencing. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

This retrospective, secondary qualitative analysis investigates whether health system factors influence social support among Black and white breast and lung cancer survivors and racial differences in support. These data come from race- and cancer-stratified focus groups (n = 6) and interviews (n = 2) to inform a randomized controlled trial utilizing antiracism and community-based participatory research approaches. Findings indicate social support was helpful for overcoming treatment-related challenges, including symptom management and patient-provider communication; racial differences in support needs and provision were noted. Resources within individual support networks reflect broader sociostructural factors. Reliance on family/friends to fill gaps in cancer care may exacerbate racial disparities.

Background Are the benefits of recording clinical encounters shared across different groups, or do they vary based on social position? Studies show that educated patients record their clinical visits to enhance their experience, but very little is known about recording benefits among “hard-to-reach” populations. Objective To examine the reactions of homeless people to the idea of using a smartphone to record their own clinical encounter, either covertly or with permission from their physician. Method We conducted semi-structured interviews with individuals at a temporary housing shelter in Northern New England. A thematic analysis identified themes that were iteratively refined into representative groups. Results Eighteen (18) interviews were conducted, 12 with women and six with men. Initial reactions to clinical recordings were positive (11 of 18). A majority (17 of 18) were willing to use recordings in future visits. A thematic analysis characterized data in two ways: (i) by providing reliable evidence for review, they functioned as an advocacy measure for patients; (ii) by promoting transparency and levelling social distance, this technology modified clinical relationships. Discussion Recordings permitted the sharing of data with others, providing tangible proof of behaviour and refuting misconceptions. Asking permission to record appeared to modify relationships and level perceived social distance with clinicians. Conclusions We found that while many rural, disadvantaged individuals felt marginalized by the wide social distance between themselves and their clinicians, recording technology may serve as an advocate by holding both patients and doctors accountable and by permitting the burden of clinical proof to be shared.

People undergoing diagnostic genome-scale sequencing are expected to have better psychological outcomes when they can incorporate and act on accurate, relevant knowledge that supports informed decision making.This longitudinal study used data from the North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing Study (NCGENES) of diagnostic exome sequencing to evaluate associations between factual genomic knowledge (measured with the University of North Carolina Genomic Knowledge Scale at three assessments from baseline to after return of results) and sequencing outcomes that reflected participants' perceived understanding of the study and sequencing, regret for joining the study, and responses to learning sequencing results. It also investigated differences in genomic knowledge associated with subgroups differing in race/ethnicity, income, education, health literacy, English proficiency, and prior genetic testing.Multivariate models revealed higher genomic knowledge at baseline for non-Hispanic Whites and those with higher income, education, and health literacy (p values0.001). These subgroup differences persisted across study assessments despite a general increase in knowledge among all groups. Greater baseline genomic knowledge was associated with lower test-related distress (p = 0.047) and greater perceived understanding of diagnostic genomic sequencing (p values 0.04 to0.001).Findings extend understanding of the role of genomic knowledge in psychological outcomes of diagnostic exome sequencing, providing guidance for additional research and interventions.

Purpose: Genomic sequencing can reveal variants with limited to no medical actionability. Previous research has assessed individuals’ intentions to learn this information, but few report the decisions they made and why. Methods: The NCGENES (North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing) project evaluated adult patients randomized to learn up to six types of “non-medically actionable secondary findings” (NMASF). We previously found that most participants intended to request NMASF and intentions were strongly predicted by anticipated regret. Here we examine discrepancies between intentions and decisions to request NMASF, hypothesizing that anticipated regret would predict requests but that this association would be mediated by participants’ intentions. Results: Of the 76% who expressed intentions to learn results, only 42% made one or more requests. Overall, only 32% of the 155 eligible participants requested NMASF. Analyses support a plausible causal link between anticipated regret, intentions, and requests. Conclusions: The discordance between participants’ expressed intentions and their actions provide insight into factors that influence patients’ preferences for genomic information that has little to no actionability. These findings have implications for the timing and methods of eliciting preferences for NMASF and suggest that decisions to learn this information have cognitive and emotional components.

Because of changes in health care, there is a greater focus on brief medication management visits as the primary method of providing psychiatric care in community mental health settings. Research on the first-person perspectives of service users and prescribers in these settings is limited. The objective of this study was to describe first-person perspectives on medication management visits and the service user-prescriber relationship.Researchers conducted qualitative interviews as part of a larger comparative effectiveness trial at 15 community mental health centers, researchers interviewed service users (N=44) and prescribers (N=25) about their perspectives on the typical elements of a medication management visit and asked service users about their relationship with their prescriber.Both service users and prescribers described medication management visits as very brief encounters focused on medication and symptoms. Most service users reflected on the service user-prescriber relationship in positive or neutral terms; they did not describe the development of a strong therapeutic relationship or a meaningful clinical encounter with prescribing clinicians.Service users described the service user-prescriber relationship and medication management visit as largely transactional. Despite the transactional nature of these encounters, most service users described relationships with prescribing clinicians in positive or neutral terms. Their satisfaction with the visit did not necessarily mean that they were receiving high-quality care. Satisfaction may instead suggest service users' disengagement from care. They may need more support to fully participate in their own care.

In a diagnostic exome sequencing study (the North Carolina Clinical Genomic Evaluation by Next-Generation Exome Sequencing project, NCGENES), we investigated adult patients’ intentions to request six categories of secondary findings (SFs) with low or no medical actionability and correlates of their intentions. At enrollment, eligible participants (n = 152) completed measures assessing their sociodemographic, clinical, and literacy-related characteristics. Prior to and during an in-person diagnostic result disclosure visit, they received education about categories of SFs they could request. Immediately after receiving education at the visit, participants completed measures of intention to learn SFs, interest in each category, and anticipated regret for learning and not learning each category. Seventy-eight percent of participants intended to learn at least some SFs. Logistic regressions examined their intention to learn any or all of these findings (versus none) and interest in each of the six individual categories (yes/no). Results revealed little association between intentions and sociodemographic, clinical, or literacy-related factors. Across outcomes, participants who anticipated regret for learning SFs reported weaker intention to learn them (odds ratios (ORs) from 0.47 to 0.71), and participants who anticipated regret for not learning these findings reported stronger intention to learn them (OR 1.61–2.22). Intentions to request SFs with low or no medical actionability may be strongly influenced by participants’ desire to avoid regret.