Search

Background Physical activity reduces osteoarthritis symptoms, yet many individuals with the disease are insufficiently active. Purpose We identified physical activity trajectories over 12 months of individuals with osteoarthritis and examined how their cohabiting spouses’/partners’ baseline physical activity and relationship factors affected trajectory membership. Methods In this longitudinal observational study, we collected data from 168 adults with knee/hip osteoarthritis. We used latent class growth curve analysis to identify physical activity trajectories and logistic regression to predict trajectory membership using partners’ physical activity, relationship satisfaction, and communal coping (belief that both partners are responsible for osteoarthritis management). Measures, including objectively assessed physical activity, were collected at baseline from the couple, who then received an educational class on physical activity and social support. Objectively assessed physical activity was also collected from individuals with osteoarthritis at 1 week, 3 months, 6 months, and 12 months post-baseline. Results Three trajectories were identified: stable active, increaser, and stable sedentary (24%, 40%, 37% of participants, respectively). Individuals with osteoarthritis with partners who were more active and who believed they alone were responsible for their osteoarthritis were more likely to follow the stable active (versus stable sedentary) trajectory. Those with partners who were less active and had higher relationship satisfaction were more likely to follow the increaser (vs. stable active) trajectory. Conclusions Findings demonstrate the importance of considering partner and relationship factors in physical activity interventions for couples.

Recent systematic reviews and meta-analyses have reported positive benefit of multicomponent “bundled” palliative care interventions for patients and family caregivers while highlighting limitations in determining key elements and mechanisms of improvement. Traditional research approaches, such as the randomized controlled trial (RCT), typically treat interventions as “bundled” treatment packages, making it difficult to assess definitively which aspects of an intervention can be reduced or replaced or whether there are synergistic or antagonistic interactions between intervention components. Progressing toward palliative care interventions that are effective, efficient, and scalable will require new strategies and novel approaches. One such approach is the Multiphase Optimization Strategy (MOST), a framework informed by engineering principles, that uses a systematic process to empirically identify an intervention comprised of components that positively contribute to desired outcomes under real-life constraints. This article provides a brief overview and application of MOST and factorial trial design in palliative care research, including our insights from conducting a pilot factorial trial of an early palliative care intervention to enhance the decision support skills of advanced cancer family caregivers (Project CASCADE).

Objective To qualitatively explore the perceptions and experiences of people with knee osteoarthritis (OA) who used an online automated pain coping skills training program (PCST). Methods This was a descriptive qualitative study (based on interpretivist methodology) embedded within a randomized controlled trial. Individual semistructured interviews were conducted with 12 people with knee OA who had participated in an 8-week automated online PCST program while also receiving exercise advice and support from a physical therapist via Skype. Interviews in this study focused specifically on the online PCST program, rather than the physical therapy component. Interviews were audiorecorded, transcribed verbatim, and thematically analyzed. Results Five themes arose: 1) easy to understand and follow (clearly explained, presented well), 2) better able to cope with pain (controlling pain, helping relax, pacing self, incorporating skills into exercise program), 3) anonymity and flexibility (no judgement by clinician, work at own pace, accessibility), 4) not always relatable or engaging (some techniques not useful, Americanization of the program, annoying character examples, time consuming and slow-paced), and 5) support from clinician desirable (follow-up from a clinician would be beneficial, worked in tandem with physical therapist-prescribed exercise, desire referral to the program by a trusted source). Conclusion People with knee OA had generally positive experiences using an online PCST program, suggesting that online PCST is a broadly acceptable and accessible way to help people with OA to manage their pain. User engagement may be enhanced by redesigning some aspects of the program and by provision of support from a clinician.

To realize the promise of population genomic screening for rare medically actionable conditions, critical challenges in the return of normal/negative results must be understood and overcome. Our study objective was to assess the functioning of a new 13-item measure (CoG-NR) of understanding of and knowledge about normal/negative genomic screening results for three highly actionable conditions: Lynch Syndrome, Hereditary Breast and Ovarian Cancer, and Familial Hypercholesterolemia. Based on our prior research and expert review, we developed CoG-NR and tested how well it functioned using hypothetical scenarios in three Qualtrics surveys. We report on its psychometric properties and performance across the three different conditions. The measure performed similarly for the three conditions. Examinations of item difficulty, internal reliability, and differential item functioning indicate that the items perform well, with statistically significant positive correlations with genomic knowledge, health literacy, and objective numeracy. CoG-NR assesses understanding of normal/negative results for each of the conditions. The next step is to examine its performance among individuals who have actually undergone such tests, and subsequent use in clinical or research situations. The CoG-NR measure holds great promise as a tool to enhance benefits of population genomic screening by bringing to light the prevalence of incorrect interpretation of negative results.

This study aimed to understand parental decisions, perspectives, values, and beliefs on next generation sequencing in the newborn period (NGS-NBS) to inform the development of a decision aid to support parental decision making in the North Carolina Newborn Exome Sequencing for Universal Screening study. We conducted dyadic interviews with 66 current or expectant parents (33 couples) to understand overall decisions about NGS-NBS and reasons for and against learning NGS-NBS results differing by age of onset and medical actionability. Audio recordings were transcribed, coded, and analyzed using qualitative framework analyses. Favorable views of NGS-NBS included benefits of early intervention, preparedness, child autonomy, and altruism. Unfavorable views were the potential negative effects from early intervention, psychosocial harm, and religious beliefs. Parents universally reported quality of life as important. Interviews elucidated what is important in deciding to have NGS-NBS. Understanding parental perspectives, values, and beliefs and integrating evidence-based findings into a parent-centric decision aid provides value and support in making decisions related to NGS-NBS, where there is no clear course of action.

Objective Using an online decision aid developed to support parental decision making about newborn genomic sequencing, we tested whether adding a values clarification exercise to educational content would improve decision making outcomes and influence intention to pursue genomic sequencing. We also examined whether the effect of values clarification varied depending on one's health literacy level. Method In an online experiment, women and men aged 18 to 44 who were either pregnant or had a pregnant partner, were currently trying to get pregnant, or were preparing for a pregnancy within the next 2 years were randomly assigned to complete either a decision aid with educational information about newborn genomic sequencing or a decision aid with the same educational information and a values clarification exercise. Results Of the 1,000 participants who completed the decision aid, those who completed the values clarification exercise reported less decision regret, F(1, 995) = 6.19, p = .01, and were clearer about their personal values, F(1, 995) = 6.39, p = .01. Moderation analyses revealed that the benefit of values clarification on decisional conflict was particularly evident among participants with lower health literacy, B = -3.94, SE = 1.67, t = -2.36, p = .018. There was not a significant moderation effect of health literacy and decision aid condition on decision regret. Conclusions Adding a values clarification exercise to decision aids for parents making decisions about genomic sequencing may improve the decision-making experience and provide some benefit to individuals with lower health literacy. (PsycINFO Database Record (c) 2020 APA, all rights reserved).

Background Although education, exercise, and weight loss are recommended for management of knee osteoarthritis, the additional benefits of incorporating weight loss strategies into exercise interventions have not been well investigated. The aim of this study is to compare, in a private health insurance setting, the clinical- and cost-effectiveness of a remotely-delivered, evidence- and theory-informed, behaviour change intervention targeting exercise and self-management (Exercise intervention), with the same intervention plus active weight management (Exercise plus weight management intervention), and with an information-only control group for people with knee osteoarthritis who are overweight or obese. Methods Three-arm, pragmatic parallel-design randomised controlled trial involving 415 people aged ≥45 and ≤ 80 years, with body mass index ≥28 kg/m2 and 2 and painful knee osteoarthritis. Recruitment is Australia-wide amongst Medibank private health insurance members. All three groups receive access to a bespoke website containing information about osteoarthritis and self-management. Participants in the Exercise group also receive six consultations with a physiotherapist via videoconferencing over 6 months, including prescription of a strengthening exercise and physical activity program, advice about management, and additional educational resources. The Exercise plus weight management group receive six consultations with a dietitian via videoconferencing over 6 months, which include a very low calorie ketogenic diet with meal replacements and resources to support behaviour change, in addition to the interventions of the Exercise group. Outcomes are measured at baseline, 6 and 12 months. Primary outcomes are self-reported knee pain and physical function at 6 months. Secondary outcomes include weight, physical activity levels, quality of life, global rating of change, satisfaction with care, knee surgery and/or appointments with an orthopaedic surgeon, and willingness to undergo surgery. Additional measures include adherence, adverse events, self-efficacy, and perceived usefulness of intervention components. Cost-effectiveness of each intervention will also be assessed. Discussion This pragmatic study will determine whether a scalable remotely-delivered service combining weight management with exercise is more effective than a service with exercise alone, and with both compared to an information-only control group. Findings will inform development and implementation of future remotely-delivered services for people with knee osteoarthritis. Trial registration Australian New Zealand Clinical Trials Registry: ACTRN12618000930280 (01/06/2018).

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 values < 0.001). 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 to

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.

Background Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey of children with suspected genetic disorders. This report describes the design and methods of a study evaluating the potential of ES as a routine clinical tool for pediatric patients who have suspected genetic conditions and who are in the early stages of the diagnostic odyssey. Methods The North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing (NCGENES) 2 study is an interdisciplinary, multi-site Phase III randomized controlled trial of two interventions: educational pre-visit preparation (PVP) and offer of first-line ES. In this full-factorial design, parent-child dyads are randomly assigned to one of four study arms (PVP + usual care, ES + usual care, PVP + ES + usual care, or usual care alone) in equal proportions. Participants are recruited from Pediatric Genetics or Neurology outpatient clinics in three North Carolina healthcare facilities. Eligible pediatric participants are Discussion NCGENES 2 will contribute valuable knowledge concerning technical, clinical, psychosocial, and health economic issues associated with using early diagnostic ES to shorten the diagnostic odyssey of pediatric patients with likely genetic conditions. Results will inform efforts to engage diverse populations in genomic medicine research and generate evidence that can inform policy, practice, and future research related to the utility of first-line diagnostic ES in health care. Trial registration ClinicalTrials.govNCT03548779. Registered on June 07, 2018.

Background Patients with Systemic Lupus Erythematosus (SLE) often experience pain and other symptoms that negatively impact quality of life. Interventions that enhance the use of behavioral and cognitive coping strategies may lead to improved outcomes among patients with SLE. Pain coping skills training (PCST) programs have been shown to improve outcomes among patients with other rheumatic conditions, but there have been no trials of PCST among patients with SLE. This study was a preliminary assessment of the feasibility and efficacy of painTRAINER, an automated, internet-based PCST program, among patients with SLE. Methods Participants (n = 60) with SLE from one health care system were randomly assigned with equal allocation to painTRAINER or a wait list control group. PainTRAINER involves 8 modules; participants were instructed to complete one module weekly, along with practice activities for each cognitive or behavioral coping skill. Outcome measures were assessed at baseline and 9-week follow-up, including the Pain Catastrophizing Scale, PROMIS Subscales (Pain Interference, Physical Function, Sleep Disturbance, Anxiety, Depression, Fatigue and Participation), and the LupusPRO questionnaire. Mean changes in outcomes from baseline to follow up and Cohen’s d effect sizes were computed. Results Effect sizes for the painTRAINER group (relative to the wait list group) were small, with changes being greatest for the PROMIS Depression score (d = − 0.32). Among those randomized to the painTRAINER group, 50% accessed the program (“painTRAINER users”). Most of those who did not access the program stated that they did not receive instructions via email. Effect sizes for “painTRAINER users” (relative to wait list) were larger than for the whole painTRAINER group: Pain Catastrophizing d = − 0.60, PROMIS Pain Interference d = − 0.3., PROMIS Depression d = − 0.44, LupusPRO Health-Related Quality of Life d = 0.30. Conclusions PainTRAINER users reported meaningful improvements in multiple physical and psychological outcomes, supporting the potential of PCST programs to benefit individuals with SLE. However, strategies are needed to improve engagement with the program and tailor content to comprehensively address key SLE symptoms and challenges. Trial registration NCT03933839, May 1, 2019.

BACKGROUND. Physical activity can improve osteoarthritis-related symptoms; however, many people with osteoarthritis (PWOA) are insufficiently active. Social support for physical activity from an intimate partner can help PWOA increase activity, but managing multiple, chronic physical or mental health conditions (i.e., multimorbidity) may influence provision and receipt of that support. METHODS. Data from a one-year longitudinal observational study was used to examine associations between multimorbidity and three dimensions of partner support for physical activity—companionship partner support (doing activity together), enacted partner support, and social support effectiveness—in 169 insufficiently active PWOA and their partners. RESULTS. Multivariable-adjusted multi-level models indicated baseline differences in support by multimorbidity status: when partners had multimorbidity, PWOA reported receiving less companionship support and less effective support from partners; when PWOA had multimorbidity, partners reported providing less enacted support and both partners and PWOA reported less effective partner support. Broad trends (p

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).

Objective Many people prefer to learn secondary or “additional” findings from genomic sequencing, including findings with limited medical actionability. Research has investigated preferences for and effects of learning such findings, but not psychosocial and behavioral effects of receiving education about them and the option to request them, which could be burdensome or beneficial (e.g., causing choice overload or satisfying strong preferences, respectively). Methods 335 adults with suspected genetic disorders who had diagnostic exome sequencing in a research study and were randomized to receive either diagnostic findings only (DF; n = 171) or diagnostic findings plus education about additional genomic findings and the option to request them (DF + EAF; n = 164). Assessments occurred after enrollment (Time 1), after return of diagnostic results and—for DF + EAF—the education under investigation (Time 2), and three and six months later (Times 3, 4). Results Time 2 test-related distress, test-related uncertainty, and generalized anxiety were lower in the DF + EAF group (ps = 0.025–0.043). There were no other differences. Conclusions Findings show limited benefits and no harms of providing education about and the option to learn additional findings with limited medical actionability. Practice implications Findings can inform recommendations for returning additional findings from genomic sequencing (e.g., to research participants or after commercial testing).

BACKGROUND: We previously demonstrated that automated, web-based pain coping skills training (PCST) can reduce osteoarthritis pain. The present secondary analyses examined whether this program also changed coping strategies participants identified for use in hypothetical pain-related situations. METHODS: People with hip/knee osteoarthritis (n=107) were randomized to web-based PCST or standard care control. At baseline and post-intervention they reported their pain severity and impairment, then completed a task in which they described how they would cope with pain in four hypothetical pain-related situations, also reporting their perceived risk for pain and self-efficacy for managing it. We coded the generated coping strategies into counts of adaptive behavioral, maladaptive behavioral, adaptive cognitive, and discrete adaptive coping strategies (coping repertoire). RESULTS: Compared to the control arm, web-based PCST decreased the number of maladaptive behavioral strategies generated (p=0.002) while increasing the number of adaptive behavioral strategies generated (p=0.006), likelihood of generating at least one adaptive cognitive strategy (p=0.01), and the size of participants’ coping repertoire (p=0.009). Several of these changes were associated with changes in pain outcomes (ps=0.01 to 0.65). Web-based PCST also reduced perceived risk for pain in the situations (p=0.03) and increased self-efficacy for avoiding pain in similar situations (p

ObjectiveTo evaluate associations between prenatal trio exome sequencing (trio-ES) and psychological outcomes among women with an anomalous pregnancy.MethodsTrio-ES study enrolling patients with major fetal anomaly and normal microarray. Women completed self-reported measures and free response interviews at two time points, pre- (1) and post- (2) sequencing. Pre-sequencing responses were compared to post-sequencing responses; post-sequencing responses were stratified by women who received trio-ES results that may explain fetal findings, secondary findings (medically actionable or carrier couple status), or negative results. Free responses were content analyzed.Results115 trios were enrolled. Of those, 41/115 (35.7%) received results from trio-ES, including 36 (31.3%) who received results that may explain the fetal phenotype. These women had greater post-sequencing distress compared to women who received negative results, including generalized distress (p=0.03) and test-related distress (p=0.2); they also had worse psychological adaptation to results (p=0.001). Genomic knowledge did not change from pre- to post-sequencing (p=0.51). Major themes from content analyses included closure, future pregnancy, altruism, anxiety, and gratitude.ConclusionsWomen show more distress after receiving trio-ES results compared to those who do not.

Introduction:Implementation of genome-scale sequencing in clinical care has significant challenges: the technology is highly dimensional with many kinds of potential results, results interpretation and delivery require expertise and coordination across multiple medical specialties, clinical utility may be uncertain, and there may be broader familial or societal implications beyond the individual participant. Transdisciplinary consortia and collaborative team science are well poised to address these challenges. However, understanding the complex web of organizational, institutional, physical, environmental, technologic, and other political and societal factors that influence the effectiveness of consortia is understudied. We describe our experience working in the Clinical Sequencing Evidence-Generating Research (CSER) consortium, a multi-institutional translational genomics consortium.Methods:A key aspect of the CSER consortium was the juxtaposition of site-specific measures with the need to identify consensus measures related to clinical utility and to create a core set of harmonized measures. During this harmonization process, we sought to minimize participant burden, accommodate project-specific choices, and use validated measures that allow data sharing.Results:Identifying platforms to ensure swift communication between teams and management of materials and data were essential to our harmonization efforts. Funding agencies can help consortia by clarifying key study design elements across projects during the proposal preparation phase and by providing a framework for data sharing data across participating projects.Conclusions:In summary, time and resources must be devoted to developing and implementing collaborative practices as preparatory work at the beginning of project timelines to improve the effectiveness of research consortia.

BACKGROUND: Osteoarthritis (OA) is a common chronic joint disease with significant individual and public health consequences. Physical activity can reduce OA symptoms, but patients often fall below recommended levels. Social support from an intimate partner can help them become more active; however, some couples are better than others at enacting effective support. We examined the role of empathic accuracy (EA)—the ability to understand another person’s thoughts and feelings—in couples’ ability to identify strategies for overcoming barriers to increasing activity. We also examined whether EA was associated with changes in affect and with emotion regulation and communication skills. METHOD: Forty-two insufficiently physically active participants with OA identified a barrier to becoming more active in a recorded discussion with their partner. Next, both rated self and partner thoughts and feelings during the discussion. Raters coded EA and whether discussions reached a solution. Affect and skills were assessed with validated questionnaires. RESULTS: An actor-partner interdependence model found higher EA for participants in couples who reached a solution compared to those who did not reach a solution in the allotted time. Both partners’ EA was associated with reduced negative affect in the other member of the couple. Unexpectedly, EA in people with OA was associated with reduced positive affect for their partners. EA was positively associated with one skill: emotional clarity. CONCLUSION: Findings from this early-stage study suggest that EA can help couples manage health-related issues together. Emotional clarity emerged as a skill related to EA, suggesting avenues for additional research.

ObjectiveHematopoietic stem cell transplant (HSCT) survivors may show evidence of objective cognitive impairment; however, perceived cognitive problems and their impact on quality of life are less well-understood. The purpose of this study was to explore HSCT survivors’ perceptions of cognitive impairment and its effect on daily life functioning.MethodSixty-nine autologous and allogeneic HSCT survivors nine months to three years posttransplant experiencing mild survivorship problems completed a brief structured interview regarding perceived cognitive impairment since transplant. Data were coded and content analyzed. The frequency of participants reporting cognitive problems by domain and associations between reports of cognitive problems and age, depressed mood, anxiety, and health-related quality of life were examined.ResultOverall, 49 of the 69 participants (71%) reported cognitive impairments after transplant: 38 in memory (55%), 29 in attention and concentration (42%), and smaller numbers in other domains. There were no significant differences in problems reported by transplant type. Of the 50 participants who worked before transplant, 19 (38%) did not return to work following transplant, with 12 citing cognitive and health problems as being the reason. There were significant associations between reports of cognitive impairment and younger age (p = 0.02), depressed mood (p = 0.02), anxiety (p = 0.002), and health-related quality of life (p = 0.008).Significance of resultsA large proportion of survivors reported cognitive impairment following HSCT that impaired daily life functioning. Perceived cognitive impairment was associated with younger age, greater distress and reduced health-related quality of life.

Background Using next-generation sequencing (NGS) in newborn screening (NBS) could expand the number of genetic conditions detected pre-symptomatically, simultaneously challenging current precedents, raising ethical concerns, and extending the role of parental decision-making in NBS. The NC NEXUS (Newborn Exome Sequencing for Universal Screening) study seeks to assess the technical possibilities and limitations of NGS-NBS, devise and evaluate a framework to convey various types of genetic information, and develop best practices for incorporating NGS-NBS into clinical care. The study is enrolling both a healthy cohort and a cohort diagnosed with known disorders identified through recent routine NBS. It uses a novel age-based metric to categorize a priori the large amount of data generated by NGS-NBS and interactive online decision aids to guide parental decision-making. Primary outcomes include: (1) assessment of NGS-NBS sensitivity, (2) decision regret, and (3) parental decision-making about NGS-NBS, and, for parents randomized to have the option of requesting them, additional findings (diagnosed and healthy cohorts). Secondary outcomes assess parents’ reactions to the study and to decision-making. Methods/design Participants are parents and children in a well-child cohort recruited from a prenatal clinic and a diagnosed cohort recruited from pediatric clinics that treat children with disorders diagnosed through traditional NBS (goal of 200 children in each cohort). In phase 1, all parent participants use an online decision aid to decide whether to accept NGS-NBS for their child and provide consent for NGS-NBS. In phase 2, parents who consent to NGS-NBS are randomized to a decision arm or control arm (2:1 allocation) and learn their child’s NGS-NBS results, which include conditions from standard (non-NGS) NBS plus other highly actionable childhood-onset conditions. Parents in the decision arm use a second decision aid to make decisions about additional results from their child’s sequencing. In phase 3, decision arm participants learn additional results they have requested. Online questionnaires are administered at up to five time points. Discussion NC NEXUS will use a rigorous interdisciplinary approach designed to collect rich data to inform policy, practice, and future research. Trial registration clinicaltrials.gov, NCT02826694. Registered on 11 July, 2016. Electronic supplementary material The online version of this article (10.1186/s13063-018-2686-4) contains supplementary material, which is available to authorized users.

This assessor-, therapist-, and participant-blinded randomised controlled trial evaluated the effects of an automated internet-based pain coping skills training (PCST) program before home exercise for people with clinically diagnosed hip osteoarthritis. One hundred forty-four people were randomised to either the PCST group or the comparator group. In the first 8 weeks, the PCST group received online education and PCST, whereas the comparison group received online education only. From weeks 8 to 24, both groups visited a physiotherapist 5 times for home exercise prescription. Assessments were performed at baseline, 8, 24, and 52 weeks. Primary outcomes were hip pain on walking (11-point numerical rating scale) and physical function (Western Ontario and McMaster Universities Osteoarthritis Index [WOMAC]) at 24 weeks. Secondary outcomes were other measures of pain, quality-of-life, global change, self-efficacy, pain coping, pain catastrophizing, depression, anxiety, stress, physical activity, and adverse events. Primary outcomes were completed by 137 (95%), 131 (91%), and 127 (88%) participants at 8, 24, and 52 weeks, respectively. There were no significant between-group differences in primary outcomes at week 24 (change in: walking pain [mean difference 0.5 units; 95% confidence interval, -0.3 to 1.3] and function [-0.9 units; 95% confidence interval, -4.8 to 2.9]), with both groups showing clinically relevant improvements. At week 8, the PCST group had greater improvements in function, pain coping, and global improvement than comparison. Greater pain coping improvements persisted at 24 and 52 weeks. In summary, online PCST immediately improved pain coping and function but did not confer additional benefits to a subsequent exercise program, despite sustained pain coping improvements.

To further inform implementation efforts of a telephone-based physical activity (PA) intervention for breast cancer survivors, we assessed the PA, fatigue, mood, and quality of life of the peer mentors/coaches who delivered the program. The coaches were volunteers with the American Cancer Society’s Reach to Recovery program. The coaches (n = 18) delivered the PA intervention to 76 breast cancer survivors in a randomized controlled trial. Coaches completed assessments of PA (self-report), motivational readiness for PA, and standardized measures of psychosocial variables at the start of coaching and at study exit. At study exit, they also responded to an open-ended question on the benefits that they accrued from the study. We used generalized linear models to analyze the PA data and psychosocial variables. Chi-squared analyses were used for motivational readiness. The written responses to the open-ended question were analyzed to identify themes. Coaches’ PA exceeded national recommendations at study entry and exit with no significant changes over time. Sixty-one percent were in the maintenance stage of motivational readiness, and 61% remained in the same stage at study exit. Psychosocial functioning also remained stable over time. Qualitative data revealed that the coaches’ gains included helping themselves (with four subthemes) and helping others. Intervention delivery had no unintended negative consequences (PA, motivational readiness, and psychosocial functioning) among coaches. They reported gains that were not reflected in standardized psychosocial assessments. These data support further implementation of peer-delivered PA programs to enhance the reach of interventions.

Objectives We examined effects of e-cigarette ad messages and visual cues on outcomes related to combustible cigarette smoking cessation: smoking cessation intention, smoking urges, and immediate smoking behavior. Methods US adult smokers (N = 3293) were recruited through Amazon Mechanical Turk and randomized to condition in a 3 (message: e-cigarette use anywhere, harm reduction, control) × 2 (e-cigarette cue presence or absence) between-subjects experiment. Stimuli were print ads for cigarette-like e-cigarettes ("cigalikes") that were manipulated for the experimental conditions. We conducted ANOVA and logistic regression analyses to investigate effects of the manipulations. Results Message effects on cessation intention and smoking urges were not statistically significant. There was no evidence of cue effects or message × cue interactions across outcomes. Contrary to expectations, e-cigarette use anywhere and harm reduction messages were associated with lower odds of immediate smoking than the control message (AOREUA = 0.75, 95%CI = 0.58, 0.97, p = .026; AORHR = 0.72, 95%CI = 0.55, 0.93, p = .013). Conclusions E-cigarette use anywhere and harm reduction messages may encourage smoking cessation, given the observed reduction in immediate smoking. E-cigarette cues may not influence smoking cessation outcomes. Future studies should investigate whether message effects are a result of smokers believing e-cigarettes to be effective cessation aids.

Introduction Despite the health benefits of physical activity for cancer survivors, nearly 60% of young adult cancer survivors (YACS) are physically inactive. Few physical activity interventions have been designed specifically for YACS. Purpose To describe the rationale and design of the IMPACT (IMproving Physical Activity after Cancer Treatment) trial, which tests the efficacy of a theory-based, mobile physical activity intervention for YACS. Methods A total of 280 physically inactive YACS (diagnosed at ages 18–39) will be randomized to a self-help control or intervention condition. All participants will receive an activity tracker and companion mobile app, cellular-enabled scale, individual videochat session, and access to a Facebook group. Intervention participants will also receive a 6-month mobile intervention based on social cognitive theory, which targets improvements in behavioral capability, self-regulation, self-efficacy, and social support, and incorporates self-regulation strategies and behavior change techniques. The program includes: behavioral lessons; adaptive goal-setting in response to individuals' changing activity patterns; tailored feedback based on objective data and self-report measures; tailored text messages; and Facebook prompts encouraging peer support. Assessments occur at baseline, 3, 6, and 12 months. The primary outcome is total physical activity min/week at 6 months (assessed via accelerometry); secondary outcomes include total physical activity at 12 months, sedentary behavior, weight, and psychosocial measures. Conclusions IMPACT uniquely focuses on physical activity in YACS using an automated tailored mHealth program. Study findings could result in a high-reach, physical activity intervention for YACS that has potential to be adopted on a larger scale and reduce cancer-related morbidity. ClinicalTrials.gov Identifier: NCT03569605.

Objective:Persistent pain is common and inadequately treated in cancer patients. Behavioral pain interventions are a recommended part of multimodal pain treatments, but they are underused in clinical care due to barriers such as a lack of the resources needed to deliver them in person and difficulties coordinating their use with clinical care. Pain coping skills training (PCST) is an evidence-based behavioral pain intervention traditionally delivered in person. Delivering this training via the web would increase access to it by addressing barriers that currently limit its use. We conducted a patient pilot study of an 8-week web-based PCST program to determine the acceptability of this approach to patients and the program features needed to meet their needs. Focus groups with healthcare providers identified strategies for coordinating the use of web-based PCST in clinical care.Method:Participants included 7 adults with bone pain due to multiple myeloma or metastasized breast or prostate cancer and 12 healthcare providers (4 physicians and 8 advanced practice providers) who treat cancer-related bone pain. Patients completed web-based PCST at home and then took part in an in-depth qualitative interview. Providers attended focus groups led by a trained moderator. Qualitative analyses identified themes in the patient and provider data.Results:Patients reported strongly favorable responses to web-based PCST and described emotional and physical benefits. They offered suggestions for adapting the approach to better fit their needs and to overcome barriers to completion. Focus groups indicated a need to familiarize healthcare providers with PCST and to address concerns about overburdening patients. Providers would recommend the program to patients they felt could benefit. They suggested applying a broad definition of cancer pain and having various types of providers help coordinate program its use with clinical care.Significance of results:Web-based PCST was acceptable to patients and providers. Our findings suggest that patients could benefit from this approach, especially if patient and provider barriers are addressed.

Background/Aims: Recent genomic medicine initiatives underscore the importance of including diverse participants in research. Considerable literature has identified barriers to and facilitators of increasing diversity, yet disparities in recruiting and retaining adequate numbers of participants from diverse groups continue to limit the generalizability of clinical genomic research. Methods: The North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing study employed evidence-based strategies to enhance the participation of under-represented minority patients. In this study, we evaluate the impact of our efforts by systematically analyzing the “cascade” of attrition of participants throughout study interactions. Results: Although successful in recruiting a cohort that included ~30% non-Caucasian patients overall, the study still enrolled and retained a lower proportion of minorities compared to the pool of eligible patients who were nominated. We evaluated sociodemographic characteristics and related variables as potential factors associated with attrition throughout these phases of the study. Conclusions: These results suggest that varied approaches will be needed to increase participation in genomic medicine research. Our findings highlight factors to consider when developing strategies to address this critical need. Failing to include a broad range of populations in research studies will exacerbate existing disparities in the translation of genomic sequencing to medical care.

Background: Online study recruitment is increasingly popular, but we know little about the decision making that goes into joining studies in this manner. In GeneScreen, a genomic screening study that utilized online education and consent, we investigated participants' perceived ease when deciding to join and their understanding of key study features. Methods: Individuals were recruited via mailings that directed them to a website where they could learn more about GeneScreen, consent to participate, and complete a survey. Results: Participants found it easy to decide to join GeneScreen and had a good understanding of study features. Multiple regression analyses revealed that ease of deciding to join was related to confidence in one's genetic self-efficacy, limited concerns about genetic screening, trust in and lack of frustration using the website, and the ability to spend a limited time on the website. Understanding of study features was related to using the Internet more frequently and attaining more information about GeneScreen conditions. Conclusions: The ease of deciding to join a genomic screening study and comprehension of its key features should be treated as different phenomena in research and practice. There is a need for a more nuanced understanding of how individuals respond to web-based consent information.

BACKGROUND: This study used the social support effectiveness framework to examine whether effective social support buffered the relationship between stressful life events and distress among hematopoietic stem cell transplant (HSCT) survivors and whether that buffering effect depended on the type of caregiver who provided it (partner versus non-partner caregivers). METHODS: A total of 275 HSCT survivors completed measures of the effectiveness of their caregiver’s support—social support effectiveness (SSE)—distress, and stressful life events. Hierarchical linear regression was used to analyze a three-way interaction between stressful life events, caregiver SSE, and caregiver type on distress. RESULTS: After controlling for covariates, the three-way interaction of stressful life events, caregiver SSE, and caregiver type was significant (b = − 0.21, SE = 0.00, p < 0.001). Among partnered survivors, more stressful life events were associated with greater distress (B = 0.03, SE = 0.01, p = 0.045) when caregiver SSE was low. There was no association between stressful life events and distress when caregiver SSE was average (B = 0.01, SE = 0.01, p = 0.50) or high (B = − 0.01, SE = 0.02, p = 0.61). Among non-partnered survivors, there was a positive association between stressful life events and distress regardless of caregiver SSE. CONCLUSIONS: Average or highly effective caregiver support buffered effects of stressful life events on distress among partnered survivors. There was no evidence that support at any level of effectiveness buffered stressful life events among non-partnered survivors. Findings highlight the importance of measuring social support effectiveness and source of support among HSCT survivors.

Partner-based social support can motivate engagement in physical activity (PA); however, couples approach exchanging support in different ways. This study aimed to elucidate the role of relationship dynamics in couple-based support for PA, with the goal of informing intervention strategies that will effectively leverage couple characteristics to increase support for PA. We conducted a qualitative study of couples who completed a longitudinal study of social support for PA. Participants were people with osteoarthritis who were not meeting PA recommendations and their cohabitating partners (n = 19 couples). We conducted in-depth, semistructured interviews and analyzed transcripts using narrative analysis. Participants were 76% non-Hispanic White and, on average, 62 years old. Themes in the data included (a) attitudes about working together to be more active (ranging from positive to negative) and (b) couples’ narrative concordance (high to low shared reality). We developed a couple typology with four categories: “Working together works” (positive attitudes/high shared reality; n = 4 couples), “Doing our own thing” (range of attitudes with practical/preferential barriers to working together/high shared reality; n = 5 couples), “Conscious conflict” (discrepant attitudes/high shared reality; n = 5 couples), and “Different realities” (discrepant attitudes/low shared reality; n = 5 couples). We describe examples of each type. In a sample of 19 couples, there were observable differences in participants’ attitudes about working together to be more active and in couples’ shared reality around those attitudes. Future research should investigate implications for the efficacy of interventions and, if warranted, develop methods to identify couple types and offer appropriate intervention strategies.

Preventing melanoma, the most serious form of skin cancer, is an important cancer control priority. This is especially true among children living in families previously affected by the disease because the risks for melanoma typically begin early in life. These risks accrue into adulthood but may be mitigated by parental intervention. Melanoma prevention behaviors that could be associated between adults and their children include use of sunscreen, protective clothing, seeking shade, or limiting sun exposure. This study sought to investigate how parent perceptions and behaviors influence sun protection and avoidance behaviors in their children, among relatives of melanoma survivors. In this cross-sectional study, parents (N = 313), all relatives of people diagnosed with melanoma, were surveyed about their melanoma risk-reduction behaviors and efforts to protect their children from sun exposure. Linear multiple regressions examined associations among parental behaviors, beliefs, and their reports of risk reduction for their children. Parents who practiced high sun protection themselves (i.e., wearing protective clothing, avoiding the sun, using sunscreen) were significantly more likely to report their child also wore protective clothing (B = 0.04, p < .004). Findings suggest that parents' use of risk-reducing behavioral measures extended to protective measures among their children. These findings have implications for the clinical care of melanoma survivors' families, including the design of targeted interventions that alter parental beliefs and behaviors surrounding both their own and their children's cancer prevention strategies.

BACKGROUND: Most individuals with knee or hip osteoarthritis do not meet recommendations for physical activity. The Social Cognitive Theory suggests that the social environment (e.g., spouses/partners) may influence the physical activity of individuals with osteoarthritis. The purpose of this study was to examine whether the physical activity of insufficiently active, coupled adults with osteoarthritis was associated with received partner support for physical activity, partner’s engagement in physical activity, and relationship satisfaction. METHODS: Cross-sectional data from 169 couples were collected. Accelerometers estimated moderate-to-vigorous physical activity and daily steps for participants with osteoarthritis and their partners. Participants with osteoarthritis reported total received partner support for physical activity and relationship satisfaction. RESULTS: Participants with osteoarthritis were on average 65 years old, 65% female, 86% non-Hispanic white, and 47% retired. Receiving total partner support more frequently was associated with more minutes of moderate-to-vigorous physical activity but not with steps. Relationship satisfaction moderated the association of partner’s physical activity on the daily steps of individuals with osteoarthritis such that having a partner who accomplished more daily steps was associated with participants with osteoarthritis accomplishing more daily steps themselves when they reported greater relationship satisfaction. CONCLUSIONS: Partners and relationship satisfaction may play an important role in the physical activity of individuals with osteoarthritis. Interventions seeking to increase physical activity in this population may be enhanced by promoting partner support. Additional research is needed to further explain these associations within the context of relationship satisfaction.

Context Symptoms affect quality of life (QOL), functional status, and cognitive function in cancer survivors, but older survivors are understudied. Objectives The objectives of this study were to identify prototypical presystemic therapy psychoneurological symptom clusters among older breast cancer survivors and determine whether these symptom clusters predicted cognition and QOL over time. Methods Women with newly diagnosed nonmetastatic breast cancer (n = 319) and matched noncancer controls (n = 347) aged 60+ years completed questionnaires and neuropsychological tests before systemic therapy and 12 and 24 months later. Latent class analysis identified clusters of survivors based on their pretherapy depression, anxiety, fatigue, sleep disturbance, and pain. Linear mixed-effects models examined changes in objective cognition, perceived cognition, and functional status (Instrumental Activities of Daily Living disability, functional well-being, and breast cancer–specific QOL) by group, controlling for covariates. Results Nearly one-fifth of older survivors were classified as having high pretherapy symptoms (n = 51; 16%); the remainder had low symptoms (n = 268; 84%); both groups improved over time on all outcomes. However, compared to the low symptom group and controls, survivors with high symptoms had lower baseline objective cognition and lower perceived cognition at baseline and 24 months, lower functional well-being at baseline and 12 months, greater Instrumental Activities of Daily Living disability at baseline, and lower breast cancer–specific QOL at all time points (all P Conclusion Nearly one-fifth of older breast cancer survivors had high psychoneurological symptoms at diagnosis, which predicted clinically meaningful decrements in perceived cognition and function in the first 24 months after diagnosis. Pretreatment psychoneurological symptom clusters could identify survivors for monitoring or intervention.

Informed and shared decision making are critical aspects of patient-centered care, which has contributed to an emphasis on decision support interventions to promote good medical decision making. However, researchers and healthcare providers have not reached a consensus on what defines a good decision, nor how to evaluate it. This position paper, informed by conference sessions featuring diverse stakeholders held at the 2015 Society of Behavioral Medicine and Society for Medical Decision Making annual meetings, describes key concepts that influence the decision making process itself and that may change what it means to make a good decision: interpersonal factors, structural constraints, affective influences, and values clarification methods. This paper also proposes specific research questions within each of these priority areas, with the goal of moving medical decision making research to a more comprehensive definition of a good medical decision, and enhancing the ability to measure and improve the decision making process.

There is debate within the genetics community about the optimal term to describe genetic variants unrelated to the test indication but potentially important for health. Given the lack of consensus and the importance of adopting terminology that promotes effective clinical communication, we sought the opinion of clinical genetics patients. Surveys and focus groups with two patient populations were conducted. Eighty-eight survey participants were asked to rank four terms according to how well each describes results unrelated to the test indication: incidental findings, secondary findings, additional findings, and ancillary findings. Participants in six focus groups were guided through a free-thought exercise to describe the desired attributes of such a term and then asked to formulate the best term to represent this concept. The term additional findings had the most first-choice rankings by survey participants, followed by secondary findings, incidental findings, and ancillary findings. Most focus group participants preferred the term additional findings; they also gave reasons why other terms were not optimal. Additional findings was preferred because it was more neutral and accessible than other terms currently in use. Patient perceptions and comprehension will be framed by the terminology used by healthcare providers. Thus, patient opinions should be considered by medical genetics professionals. Genet Med 19 2, 176–181.

Little research has examined how prostate cancer patients’ and their spouses’ appraisals of illness and quality of life (QOL) interact with one another. This study examined the interdependent relationships between their appraisals of illness and QOL and if their perceived dyadic communication mediated these relationships. We used the Actor-Partner Interdependence Mediation Model (APIMeM) approach to conduct a secondary analysis of longitudinal data from 124 prostate cancer patient-spouse dyads. We examined actor effects (each person’s influence on his/her own outcomes) and partner effects (each person’s influence on his/her partner’s outcomes). Appraisals of illness, perceived dyadic communication, and QOL were measured using Appraisal of Illness Scale, Lewis Mutuality and Interpersonal Sensitivity Scale, and Functional Assessment of Chronic Illness Therapy General Scale, respectively. Analyses controlled for effects of prostate cancer symptoms and demographic factors. Among actor effects, spouses with more negative appraisals at baseline perceived worse dyadic communication 4 months later (p

PURPOSE: Breast cancer survivors on aromatase inhibitors (AI) often experience side effects of joint pain, stiffness, or achiness (arthralgia). This study presents findings from a qualitative study of survivors on an AI regarding their knowledge of potential joint pain side effects and how both AI side effects and their management through moderate physical activity could be discussed during routine visits with their oncology provider. METHODS: Qualitative data from semi-structured interviews were content analyzed for emergent themes. Descriptive statistics summarize sample characteristics. RESULTS: Our sample included 36 survivors, mean age of 67 (range 46-87); 86% Caucasian, and 70% had education beyond high school. AI experience: 64% anastrozole/Arimidex, 48% letrozole/Femara, 31% exemestane/Aromasin. Participants expressed interest in having more information about potential joint pain side effects when the AI was prescribed so they could understand their joint symptoms when they appeared or intensified. They were relieved to learn that their joint symptoms were not unusual or “in their head.” Participants would have been especially motivated to try walking as a way to manage their joint pain if physical activity had been recommended by their oncologist. CONCLUSIONS: Breast cancer survivors who are prescribed an AI as part of their adjuvant treatment want on-going communication with their oncology provider about the potential for joint pain side effects and how these symptoms may be managed through regular physical activity. The prescription of an AI presents a “teachable moment” for oncologists to recommend and encourage their patients to engage in regular physical activity.

© 2018 American Society of Human Genetics The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. The consortium comprises a coordinating center, six funded extramural clinical projects, and an ongoing National Human Genome Research Institute (NHGRI) intramural project. Collectively, these projects aim to enroll and sequence over 6,100 participants in four years. At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. Five of the six clinical projects are enrolling pediatric patients with various phenotypes. One of these five projects is also enrolling couples whose fetus has a structural anomaly, and the sixth project is enrolling adults at risk for hereditary cancer. The ongoing NHGRI intramural project has enrolled primarily healthy adults. Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings.

Increases in physical activity can reduce joint pain among people with osteoarthritis (PWOA) who are insufficiently physically active. Because evidence suggests that social support from intimate partners may help PWOA become more active, researchers have been interested in recruiting couples to studies of physical activity interventions; however, little guidance exists describing efficient and effective strategies for engaging couples in research. We describe methods used to recruit couples and contrast methods in terms of the proportion of individuals enrolled, sample demographic composition, retention, and resources. We used four recruitment methods to enroll couples in a longitudinal study of PWOA: (1) visiting community sites, (2) sending university-wide emails, (3) contacting patients identified through electronic medical records (EMR), and (4) partnering with a county-based osteoarthritis (OA) research cohort. We found that these methods differed in their challenges and contribution to enrollment goals but demonstrated similar levels of retention. We contacted 747 PWOA; 56% were screened for eligibility and 23% enrolled in the study. The largest proportion of participants recruited were from the email method (35.1%), followed by the community (26%), EMR (22.0%), and OA cohort (19.6%). Couples enrolled through the different methods differed by age, employment, education, and household income. Across the methods for both PWOA and partners, over 80% of participants were non-Hispanic white, about 11% were non-Hispanic black, and 6–8% identified as another race. Over 12 months of follow-up, 31 (17.9%) PWOA and 36 (20.8%) partners were lost to follow-up. Using four distinct recruitment methods allowed us to meet recruitment goals and provided a broader, more diverse population compared to using one method. We recommend that researchers consider several recruitment methods to meet enrollment goals, to ensure a diverse sample, and to match available resources. The lessons learned from this research fill a critical gap in the understanding of how to overcome barriers to recruiting and retaining couples in behavioral research.

Obesity affects more than one-third of Americans and is a leading cause of preventable death. Integrating patient perspectives into obesity treatment can help primary care providers (PCPs) intervene more effectively. In this study, we describe patients’ experiences with PCPs concerning the diagnosis and treatment of obesity and offer suggestions for patient-centered care in weight management. We conducted four focus groups with patients of a university medical system-associated family practice who had a BMI ≥ 30. Interview questions addressed general weight management perceptions and preferences for weight management support in a primary care setting. Patients completed a brief demographic survey at the conclusion of the group. Four authors independently coded focus group notes to identify themes and determine saturation using qualitative thematic analysis. We resolved discrepancies by team discussion. Thirty primary care patients participated, of whom 23 were female and whose average age was 50. Twenty-four had attempted to lose weight in the past 12 months and had discussed management with their providers. Analyses identified four themes regarding weight management in a primary care setting: motivation and weight management, the provider–patient relationship, desire for concrete weight loss plans, and limitations of the primary care setting. Motivation was named as a weight management obstacle. Participants felt that PCPs need to be partners in weight management efforts and also recognized limitations of PCP time and expertise. They endorsed an integrated behavioral approach that includes physical activity and nutrition support. Improving PCP delivery of evidence-based treatment for obesity will lead to increased patient attempts to lose weight. Incorporating patients’ desires for concrete plans, ongoing support, and referral to integrated service (e.g., nutritionists, care managers, behavioral health providers) programs can increase patient engagement and success. The chronic disease care and Patient Centered Medical Home models offer guidance for ensuring sustainability of weight management services.

Purpose In genomics, the return of negative screening results for rare, medically actionable conditions in large unselected populations with low prior risk of disease is novel and may involve important and nuanced concerns for communicating their meaning. Recruitment may result in self-selection because of participants’ personal or family history, changing the characteristics of the screened population and interpretation of both positive and negative findings; prior motivations may also affect responses to results. Methods Using data from GeneScreen, an exploratory adult screening project that targets 17 genes related to 11 medically actionable conditions, we address four questions: 1) Do participants self-select based on actual or perceived risk for one of the conditions? 2) Do participants understand negative results? 3) What are their psychosocial responses? 4) Are negative results related to changes in reported health-related behaviors? Results We found disproportionate enrollment of individuals at elevated prior risk for conditions being screened, and a need to improve communication about the nature of screening and meaning of negative screening results. Participants expressed no decision regret and did not report intention to change health-related behaviors. Conclusion This study illuminates critical challenges to overcome if genomic screening is to benefit the general population.

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.

Background Empirical research has revealed a positive relationship between type 2 diabetes mellitus and depression, but questions remain regarding timing of depression measurement, types of instruments used to measure depression, and whether “depression” is defined as clinical depression or depressive symptoms. The present study sought to establish the robustness of the depression-diabetes relationship across depression definition, severity of depressive symptoms, recent depression, and lifetime depression in a nationally representative dataset and a large rural dataset. Methods The present examination, conducted between 2014 and 2015, used two large secondary datasets: the National Health and Nutrition Examination Survey (NHANES) from 2007 to 2008 (n = 3072) and the Arthritis, Coping, and Emotion Study (ACES) from 2002 to 2006 (n = 2300). Depressive symptoms in NHANES were measured using the Patient Health Questionnaire 9-item survey (PHQ-9). ACES used the Center for Epidemiologic Studies—Depression Scale (CES-D) to measure depressive symptoms and the Composite International Diagnostic Interview (CIDI) to measure diagnosable depression. Diabetes was modelled as the dichotomous outcome variable (presence vs. absence of diabetes). Logistic regression was used for all analyses, most of which were cross-sectional. Analyses controlled for age, ethnicity, sex, education, and body mass index, and NHANES analyses used sample weights to account for the complex survey design. Additional analyses using NHANES data focused on the addition of health behavior variables and inflammation to the model. Results NHANES. Every one-point increase in depressive symptoms was associated with a 5% increase in odds of having diabetes [OR: 1.05 (CI: 1.03, 1.07)]. These findings persisted after controlling for health behaviors and inflammation. ACES. For every one-point increase in depressive symptom score, odds of having diabetes increased by 2% [OR: 1.02 (CI: 1.01, 1.03)]. Recent (past 12 months) depression [OR: 1.49, (CI: 1.03, 2.13)] and lifetime depression [OR: 1.40 (CI: 1.09, 1.81)] were also significantly associated with having diabetes. Conclusions This study provides evidence for the robustness of the relationship between depression or depressive symptoms and diabetes and demonstrates that depression occurring over the lifetime can be associated with diabetes just as robustly as that which occurs more proximal to the time of study measurement.

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.

A randomized experiment by Rini et al. (Health Psychol. 33(12):1541–1551, 2014) demonstrated that expressive helping, which involves three expressive writing sessions regarding hematopoietic stem cell transplant, followed by one writing session directed toward helping other stem cell transplant recipients, reduced psychological distress and bothersome physical symptoms among stem cell transplant recipients with elevated survivorship problems, relative to a neutral writing control condition. The current study evaluated whether word use reflective of emotional expression, cognitive processing, and change in perspective mediates the effects of expressive helping. The essays of 67 stem cell transplant recipients with high survivorship problems were analyzed with Linguistic Inquiry and Word Count. Multiple mediation modeling was used to test the hypothesized mechanisms of expressive helping on distress and bothersome physical symptoms. Relative to the control condition, expressive helping produced significant reductions in psychological distress and marginal reductions in physical symptom bother in the analyzed subset of participants from the parent study. Results indicated that positive emotion word use significantly mediated effects of expressive helping on reduced distress, but only for participants who used average (compared to above or below average) rates of negative emotion words. Cognitive processing and change in perspective did not significantly mediate benefits of expressive helping. Expressive helping carried its positive effects on distress through participants’ higher expression of positive emotions when coupled with moderate rates of negative emotions. Findings highlight the benefit of expressing both positive and negative emotions in stressful situations.

Background Effective, accessible biopsychosocial treatments are needed to manage chronic knee pain on a population level. Objective To evaluate the effectiveness of Internet-delivered, physiotherapist-prescribed home exercise and pain-coping skills training (PCST). Design Pragmatic parallel-group randomized, controlled trial. (Australian New Zealand Clinical Trials Registry: ACTRN12614000243617). Setting Community (Australia). Patients 148 persons aged 50 years or older with chronic knee pain. Intervention The intervention was delivered via the Internet and included educational material, 7 videoconferencing (Skype [Microsoft]) sessions with a physiotherapist for home exercise, and a PCST program over 3 months. The control was Internet-based educational material. Measurements Primary outcomes were pain during walking (11-point numerical rating scale) and physical function (Western Ontario and McMaster Universities Osteoarthritis Index) at 3 months. Secondary outcomes were knee pain, quality of life, global change (overall, pain, and functional status), arthritis self-efficacy, coping, and pain catastrophizing. Outcomes were also measured at 9 months. Results Of participants enrolled, 139 (94%) completed primary outcome measures at 3 months and 133 (90%) completed secondary outcome measures at 9 months; multiple imputation was used for missing data. The intervention group reported significantly more improvement in pain (mean difference, 1.6 units [95% CI, 0.9 to 2.3 units]) and physical function (mean difference, 9.3 units [CI, 5.9 to 12.7 units]) than the control group at 3 months, and improvements were sustained at 9 months (mean differences, 1.1 units [CI, 0.4 to 1.8 units] and 7.0 units [CI, 3.4 to 10.5 units], respectively). Intervention participants showed significantly more improvement in most secondary outcomes than control participants. At both time points, significantly more intervention participants reported global improvements. Limitation Participants were unblinded. Conclusion For persons with chronic knee pain, Internet-delivered, physiotherapist-prescribed exercise and PCST provide clinically meaningful improvements in pain and function that are sustained for at least 6 months. Primary funding source National Health and Medical Research Council.

Background: This study evaluated the psychometric properties of a new, comprehensive measure of knowledge about genomic sequencing, the University of North Carolina Genomic Knowledge Scale (UNC-GKS). Methods: The UNC-GKS assesses knowledge in four domains thought to be critical for informed decision making about genomic sequencing. The scale was validated using classical test theory and item response theory in 286 adult patients and 132 parents of pediatric patients undergoing diagnostic whole exome sequencing (WES) in the NCGENES study. Results: The UNC-GKS assessed a single underlying construct (genomic knowledge) with good internal reliability (Cronbach’s α = 0.90). Scores were most informative (able to discriminate between individuals with different levels of genomic knowledge) at one standard deviation above the scale mean or lower, a range that included most participants. Convergent validity was supported by associations with health literacy and numeracy (rs = 0.41–0.46). The scale functioned well across subgroups differing in sex, race/ethnicity, education, and English proficiency. Discussion: Findings supported the promise of the UNC-GKS as a valid and reliable measure of genomic knowledge among people facing complex decisions about WES and comparable sequencing methods. It is neither disease- nor population-specific, and it functioned well across important subgroups, making it usable in diverse populations.

PurposeWe investigated the diagnostic and clinical performance of exome sequencing in fetuses with sonographic abnormalities with normal karyotype and microarray and, in some cases, normal gene-specific sequencing.MethodsExome sequencing was performed on DNA from 15 anomalous fetuses and from the peripheral blood of their parents. Parents provided consent to be informed of diagnostic results in the fetus, medically actionable findings in the parents, and their identification as carrier couples for significant autosomal recessive conditions. We assessed the perceptions and understanding of exome sequencing using mixed methods in 15 mother-father dyads.ResultsIn seven (47%) of 15 fetuses, exome sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: COL1A1, MUSK, KCTD1, RTTN, TMEM67, PIEZO1 and DYNC2H1. One additional case revealed a de novo nonsense mutation in a novel candidate gene (MAP4K4). The perceived likelihood that exome sequencing would explain the results (5.2 on a 10-point scale) was higher than the approximately 30% diagnostic yield discussed in pretest counseling.ConclusionExome sequencing had diagnostic utility in a highly select population of fetuses where a genetic diagnosis was highly suspected. Challenges related to genetics literacy and variant interpretation must be addressed by highly tailored pre- and posttest genetic counseling.

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

Hematopoietic stem cell transplant survivors often share advice with patients undergoing this difficult treatment. We content analyzed narratives written by 59 transplant survivors given the opportunity to share advice with patients. Analyses described categories of advice they shared and evaluated their perceptions of the helpfulness of advice they had received. We found nine advice categories and evidence for variation in their perceived helpfulness, especially for advice to “be your own advocate,” “have someone you can rely on,” and “think positive.” Findings suggest the need to investigate how seemingly innocuous advice can be unhelpful and potentially distressing to some patients.