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Context Patients with advanced cancer often involve family caregivers in health-related decision-making from diagnosis to end-of-life; however, few interventions have been developed to enhance caregiver decision support skills. Objectives Assess the feasibility, acceptability, and potential efficacy of individual intervention components of CASCADE (CAre Supporters Coached to be Adept DEcision Partners), an early telehealth, palliative care coach-led decision support training intervention for caregivers. Methods Pilot factorial trial using the multiphase optimization strategy (October 2019-October 2020). Family caregivers and their care recipients with newly-diagnosed advanced cancer (n = 46 dyads) were randomized to1 of 8 experimental conditions that included a combination of one of the following three CASCADE components: 1) effective decision support psychoeducation; 2) decision support communication training; and 3) Ottawa Decision Guide training. Feasibility was assessed by completion of sessions and questionnaires (predefined as ≥80%). Acceptability was determined through postintervention interviews and participants’ ratings of their likelihood to recommend. Measures of effective decision support and caregiver and patient distress were collected at Twelve and Twenty four weeks. Results Caregiver participants completed 78% of intervention sessions and 81% of questionnaires; patients completed 80% of questionnaires. Across conditions, average caregiver ratings for recommending the program to others was 9.9 on a scale from 1-Not at all likely to 10-Extremely likely. Individual CASCADE components were observed to have potential benefit for effective decision support and caregiver distress. Conclusion We successfully piloted a factorial trial design to examine components of a novel intervention to enhance the decision support skills of advanced cancer family caregivers. A fully-powered factorial trial is warranted. Key Message We pilot tested components of CASCADE, an early palliative care decision support training intervention for family caregivers of patients with advanced cancer. CASCADE components were acceptable and the trial design feasible, providing promising future directions for palliative care intervention development and testing. Pilot results will inform a fully-powered trial.

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.

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.

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.

Summary Prior to integration into clinical care, a novel medical innovation is typically assessed in terms of its balance of benefits and risks, often referred to as utility. Members of multidisciplinary research teams may conceptualize and assess utility in different ways, which has implications within the translational genomics community and for the evidence base upon which clinical guidelines groups and healthcare payers make decisions. Ambiguity in the conceptualization of utility in translational genomics research can lead to communication challenges within research teams and to study designs that do not meet stakeholder needs. We seek to address the ambiguity challenge by describing the conceptual understanding of utility and use of the term by scholars in the fields of philosophy, medicine, and the social sciences of decision psychology and health economics. We illustrate applications of each field's orientation to translational genomics research by using examples from the Clinical Sequencing Evidence-Generating Research (CSER) consortium, and we provide recommendations for increasing clarity and cohesion in future research. Given that different understandings of utility will align to a greater or lesser degree with important stakeholders' views, more precise use of the term can help researchers to better integrate multidisciplinary investigations and communicate with stakeholders.

Background Men with localized prostate cancer often experience urinary, sexual, bowel, and hormonal symptoms; general distress; pain; fatigue; and sleep disturbance. For men in an intimate relationship, these symptoms disrupt couples’ relationships and intimacy. The symptoms also reduce quality of life for both men and their partners, who are often their primary caregivers. Management of the negative effects of cancer and its treatment is a significantly under-addressed supportive care need for these men and their intimate partners. To address these unmet supportive care needs, our interdisciplinary team developed and pilot tested the usability and feasibility of an evidence-based, couple-focused, tailored eHealth intervention, “Prostate Cancer Education & Resources for Couples” (PERC). Based on the adapted stress and coping theoretical framework and developed with stakeholder involvement, PERC aims to improve quality of life for both men and their partners by enhancing their positive appraisals, self-efficacy, social support, and healthy behaviors for symptom management. Methods We will test the efficacy of PERC using a population-based, geographically and demographically diverse cohort in a randomized controlled trial. Primary aim: Assess if patients and partners receiving PERC will report greater improvement in their cancer-related quality of life scores than those in the control group (usual care plus the National Cancer Institute prostate cancer website) at 4, 8, and 12 months post-baseline. Secondary aim: Test if patients and partners in PERC will report significantly more positive appraisals and higher levels of coping resources at follow-ups than those in the control group. Exploratory aim: Determine if patient race and ethnicity, education, type of treatment, or couples’ relationship quality moderate the effects of PERC on patient and partner QOL at follow-ups. Discussion This study will provide a novel model for self-managing chronic illness symptoms that impact couples’ relationships, intimacy, and quality of life. It addresses the National Institute of Nursing Research’s goal to develop and test new strategies for symptom self-management to help patients and caregivers better manage their illness and improve quality of life. It also responds to calls for programs from the Institute of Medicine and American Cancer Society to address treatment-related effects and improve survivors’ QOL. Trial registration CT.gov NCT03489057

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 During, shortly after, and sometimes for years after hematopoietic stem cell transplant, a large proportion of hematological cancer patients undergoing transplant report significant physical and psychological symptoms and reduced health-related quality of life. To address these survivorship problems, we developed a low-burden, brief psychological intervention called expressive helping that includes two theory- and evidence-based components designed to work together synergistically: emotionally expressive writing and peer support writing. Building on evidence from a prior randomized control trial showing reductions in physical symptoms and distress in long-term transplant survivors with persistent survivorship problems, the Writing for Insight, Strength, and Ease (WISE) trial will evaluate the efficacy of expressive helping when used during transplant and in the early post-transplant period, when symptoms peak, and when intervention could prevent development of persistent symptoms. Methods WISE is a multi-site, two-arm randomized controlled efficacy trial. Adult hematological cancer patients scheduled for a hematopoietic stem cell transplant will complete baseline measures and then, after hospitalization but prior to transplant, they will be randomized to complete either expressive helping or a time and attention “neutral writing” task. Both expressive helping and neutral writing involve four brief writing sessions, beginning immediately after randomization and ending approximately 4 weeks after hospital discharge. Measures of symptom burden (primary outcome), distress, health-related quality of life, and fatigue (secondary outcomes) will be administered in seven assessments coinciding with medically relevant time points from baseline and to a year post-intervention. Discussion The steady and continuing increase in use of stem cell transplantation has created growing need for efficacious, accessible interventions to reduce the short- and long-term negative physical and psychosocial effects of this challenging but potentially life-saving treatment. Expressive helping is a psychological intervention that was designed to fill this gap. It has been shown to be efficacious in long-term transplant survivors but could have even greater impact if it is capable of reducing symptoms during and soon after transplant. The WISE study will evaluate these benefits in a rigorous randomized controlled trial. Trial registration Clinicaltrial.govNCT03800758. Registered January 11, 2019

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.

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.

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.

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.

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: 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.

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.

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.

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.

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.

© 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.

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.

Background Persistent hip pain in older people is usually due to hip osteoarthritis (OA), a major cause of pain, disability, and psychological dysfunction. Objective The purpose of this study is to evaluate whether adding an Internet-based pain coping skills training (PCST) protocol to a standardized intervention of education followed by physical therapist–instructed home exercise leads to greater reductions in pain and improvements in function. Design An assessor-, therapist-, and participant-blinded randomized controlled trial will be conducted. Setting The study will be conducted in a community setting. Participants The participants will be 142 people over 50 years of age with self-reported hip pain consistent with hip OA. Intervention Participants will be randomly allocated to: (1) a control group receiving a 24-week standardized intervention comprising an 8-week Internet-based education package followed by 5 individual physical therapy exercise sessions plus home exercises (3 times weekly) or (2) a PCST group receiving an 8-week Internet-based PCST protocol in addition to the control intervention. Measurements Outcomes will be measured at baseline and 8, 24, and 52 weeks, with the primary time point at 24 weeks. Primary outcomes are hip pain on walking and self-reported physical function. Secondary outcomes include health-related quality-of-life, participant-perceived treatment response, self-efficacy for pain management and function, pain coping attempts, pain catastrophizing, and physical activity. Measurements of adherence, adverse events, use of health services, and process measures will be collected at 24 and 52 weeks. Cost-effectiveness will be assessed at 52 weeks. Limitations A self-reported diagnosis of persistent hip pain will be used. Conclusions The findings will help determine whether adding an Internet-based PCST protocol to standardized education and physical therapist–instructed home exercise is more effective than education and exercise alone for persistent hip pain. This study has the potential to guide clinical practice toward innovative modes of psychosocial health care provision.

Purpose/objectives To evaluate the feasibility and acceptability of a newly developed web-based, couple-oriented intervention called Prostate Cancer Education and Resources for Couples (PERC). Design Quantitative, qualitative, mixed-methods approach. Setting Oncology outpatient clinics at the University of North Carolina (UNC) Lineberger Comprehensive Cancer Center at UNC–Chapel Hill. Sample 26 patients with localized prostate cancer (PCa) and their partners. Methods Pre- and postpilot quantitative assessments and a postpilot qualitative interview were conducted. Main research variables General and PCa-specific symptoms, quality of life, psychosocial factors, PERC’s ease of use, and web activities. Findings Improvement was shown in some PCa-specific and general symptoms (small effect sizes for patients and small-to-medium effect sizes for partners), overall quality of life, and physical and social domains of quality of life for patients (small effect sizes). Web activity data indicated high PERC use. Qualitative and quantitative analyses indicated that participants found PERC easy to use and understand,as well as engaging, of high quality, and relevant. Overall, participants were satisfied with PERC and reported that PERC improved their knowledge about symptom management and communication as a couple. Conclusions PERC was a feasible, acceptable method of reducing the side effects of PCa treatment–related symptoms and improving quality of life. Implications for nursing PERC has the potential to reduce the negative impacts of symptoms and enhance quality of life for patients with localized PCa and their partners, particularly for those who live in rural areas and have limited access to post-treatment supportive 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.

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.

In 2008, the US Preventive Services Task Force updated its recommendations to discourage screening for prostate cancer in men over 75 and for colorectal cancer in adults over 85. We aimed to determine whether newspapers portrayed these screenings differently after these recommendation changes. A quantitative content analysis included articles on prostate-specific antigen (PSA) testing or colonoscopy in US newspapers from 2005 to 2012. Outcomes included the number of benefits and harms mentioned and the gist expert and lay readers might get from articles. Benefits in PSA articles (n = 222) and harms and benefits in colonoscopy articles (n = 65) did not change over time. Mentions of PSA harms increased after 2008 (p < .01). Expected expert gist of PSA articles became more negative after 2008 (p < .01). Expected lay gist was positive and did not change. News coverage of PSA testing harms increased without a decrease in the discussion of benefits. Consumers, especially lay consumers, are receiving unbalanced information on cancer screening.

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.

Background Persistent knee pain in people over 50 years of age is often attributable to knee osteoarthritis (OA), a common joint condition that causes physical and psychological dysfunction. Exercise and pain coping skills training (PCST) can help reduce the impact of persistent knee pain, however, access to health professionals who deliver these services can be challenging. With increasing access to the Internet, remotely delivered Internet-based treatment approaches may provide alternatives for healthcare delivery. This pragmatic randomised controlled trial will investigate whether an Internet-delivered intervention that combines PCST and physiotherapist-guided exercise (PCST + Ex) is more effective than online educational material (educational control) in people with persistent knee pain. Methods/Design We will recruit 148 people over 50 years of age with self-reported persistent knee pain consistent with knee OA from the Australian community. Following completion of baseline questionnaires, participants will be randomly allocated to access a 3-month intervention of either (i) online educational material, or (ii) the same online material plus an 8-module (once per week) Internet-based PCST program and seven Internet-delivered physiotherapy sessions with a home exercise programs to be performed 3 times per week. Outcomes will be measured at baseline, 3 months and 9 months with the primary time point at 3 months. Primary outcomes are average knee pain on walking (11-point numeric rating scale) and self-reported physical function (Western Ontario and McMaster Universities Osteoarthritis Index subscale). Secondary outcomes include additional measures of knee pain, health-related quality-of-life, perceived global change in symptoms, and potential moderators and mediators of outcomes including self-efficacy for pain management and function, pain coping attempts and pain catastrophising. Other measures of adherence, adverse events, harms, use of health services/co-interventions, and process measures including appropriateness and satisfaction of the intervention, will be collected at 3, 6 and 9 months. Discussion The findings will help determine the effectiveness and acceptability of Internet access to a combination of interventions that are known to be beneficial to people with persistent knee pain. This study has the potential to guide clinical practice towards innovative modes of healthcare provision. Trial registration Australian New Zealand Clinical Trials Registry reference: ACTRN12614000243617. Electronic supplementary material The online version of this article (doi:10.1186/1471-2474-15-279) contains supplementary material, which is available to authorized users.

Advances in genomic sequencing technology have raised fundamental challenges to the traditional ways genomic information is communicated. These challenges will become increasingly complex and will affect a much larger population in the future if genomics is incorporated into standard newborn screening practice. Clinicians, public health officials, and other stakeholders will need to agree on the types of information that they should seek and communicate to parents. Currently, few evidence-based and validated tools are available to support parental informed decision-making. These tools will be necessary as genomics is integrated into clinical practice and public health systems. In this article we describe how the North Carolina Newborn Exome Sequencing for Universal Screening study is addressing the need to support parents in making informed decisions about the use of genomic testing in newborn screening. We outline the context for newborn screening and justify the need for parental decision support. We also describe the process of decision aid development and the data sources, processes, and best practices being used in development. By the end of the study, we will have an evidenced-based process and validated tools to support parental informed decision-making about the use of genomic sequencing in newborn screening. Data from the study will help answer important questions about which genomic information ought to be sought and communicated when testing newborns.

Hematopoietic stem cell transplantation (HSCT) is a demanding treatment for hematologic malignancies. The toxic preparative regimen most patients receive (high-dose chemotherapy, sometimes with total body irradiation) suppresses or destroys their immune function, necessitating protective isolation and causing side effects including fatigue, cognitive difficulties, and sexual dysfunction [1–2]. For many survivors these difficulties are resolved within the first year after transplant; however, they can persist, and survivors continue to face increased risk of all-cause mortality [3–5]. HSCT has also been associated with depression, anxiety, fear of cancer recurrence, and symptoms of post-traumatic stress disorder before, during, and after transplant [4, 6–7]. These physical and psychological effects occur in conjunction with practical difficulties that have been conceptualized as chronic stressors in other populations. Here we focus on three that are interrelated and commonly reported after transplant: persistent financial, employment, and insurance stressors. These stressors (which we refer to collectively as economic survivorship stressors) have the potential to exacerbate negative physical and psychological effects of transplant, thereby reducing survivors' health-related quality of life (HRQOL). HRQOL encompasses the extent to which survivors experience a sense of well-being, have the ability to carry out activities of daily living, and experience disease-related symptoms. It represents a critical aspect of the transplant recovery and survivorship experience, and economic survivorship stressors may adversely affect HRQOL through biological, behavioral, and psychological pathways [8–9]. For instance, financial stress (perceived inadequacy of financial resources) is associated with worse physical and psychological health in community populations [10–12], and has been associated with decreased HRQOL and elevated distress among low-income survivors of breast and gynecologic cancers [13]. Cancer-related financial stress and strain have also been associated with adverse psychological well-being among survivors of breast, prostate, and lung cancer [14]. Furthermore, qualitative work conducted with cancer survivors and their caregivers has demonstrated that financial worries and difficulties have a negative impact on family lifestyle, activities, roles, and relationships [15]. In HSCT, the potential for financial stress is high because of the costliness of the treatment [2], and additional expenses due to treatment-related complications, medications, transportation to and from transplant facilities, and routine medical follow-up. Employment-related problems are associated with financial stress, in addition to being stressful in their own right. Cancer survivors report difficulties including non-supportive work environments, changes in work schedules and relationships with colleagues, perceived employer discrimination, and reductions in perceived work ability, all of which may be persistent areas of concern with implications for their return to work, financial standing, and overall well-being [16]. Among HSCT survivors, enduring physical effects of transplant can prevent or substantially delay return to work [6]. One study found that approximately 40% of HSCT survivors had not returned to work 1-year post-transplant, and approximately 30% had not returned 2-years post-transplant [17]. Caregivers also lose income due to missed work, and incur substantial out-of-pocket expenses in order to stay at or near the treatment center [18]. Finally, many transplant survivors struggle with health insurance claims, policy caps, and obtaining future coverage. In one study approximately 32% of survivors reported that obtaining insurance was problematic, and 31% reported concerns about changing jobs for fear of losing health insurance coverage [19]. In a study of 10-year survivors of HSCT, 24% reported a history of health insurance denial compared to 0% of age-, sex-, and race-matched controls [5]. In addition to being a source of stress and frustration, insurance problems may increase financial burden among survivors who require ongoing surveillance. The role of insurance stress in cancer survivors' HRQOL has not been explored, although health insurance status has been shown to predict HRQOL in some studies. For instance, lack of insurance coverage has been associated with poorer HRQOL among survivors of prostate cancer [20]. However, insurance status was unrelated to HRQOL in a sample of Hispanic and African-American cancer patients [21]. The present study investigated these economic survivorship stressors and their association with HRQOL among survivors of HSCT. Participants were 181 men and women who had undergone HSCT 9–36 months prior to assessment. First, we examined survivors' post-transplant perceptions of financial, employment, and insurance stressors. Second, we investigated these perceived stressors as predictors of survivors' HRQOL, hypothesizing that greater economic survivorship stress would be associated with poorer HRQOL. Because stress and coping theory posits that people's perceptions of a situation (as opposed to the situation's objective characteristics) are most important in determining health [22], we predicted that associations between economic survivorship stress and HRQOL would remain even after controlling for objective indicators of socioeconomic position including income, education, and employment status. We also examined potential confounding effects of survivors' sociodemographic and medical characteristics on the hypothesized associations. A final, exploratory aspect of this study was based on the fact that people's social environments and personal resources influence how they appraise and respond to a stressor [22]. Informed by both relative deprivation theory [23–24], which predicts that greater financial disparities are associated with poorer health in part because people experience distress when they perceive their economic standing as worse than others, and social comparison theory [25], which posits that people compare themselves to others when evaluating themselves on a particular dimension, we reasoned that survivors would appraise economic survivorship stressors differently depending on their economic standing relative to others in their social environment. We investigated the effects of the financial crisis that occurred during this study, which led to a sudden, profound shift in the economic well-being of many Americans. We hypothesized that, compared to survivors who completed the study before the crisis, those who completed it after the crisis would appraise each of these stressors as less dire because of the knowledge that many people were experiencing similar problems. Although pinpointing the exact timing of the recession is difficult, experts identify the very public failures in the financial sector in September 2008 as a pivotal turning point [26–27]. We also examined whether the portion of survivors' transplant paid by health insurance, which varies across individuals and affects how much of the treatment costs they bear, would moderate the association between economic survivorship stress and HRQOL. This situational factor may influence how people appraise their financial demands; thus, we predicted that the adverse effects of each economic survivorship stressor on HRQOL would be amplified among those participants whose insurance covered the smallest portions of their transplant expenses.

Cancer survivors treated with hematopoietic stem cell transplant rely on their social network for successful recovery. However, some survivors have negative attitudes about using social resources (negative social network orientation) that are critical for their recovery.We examined the association between survivors' social network orientation and health-related quality of life (HRQoL) and whether it was mediated by social resources (network size, perceived support, and negative and positive support-related social exchanges).In a longitudinal study, 255 survivors completed validated measures of social network orientation, HRQoL, and social resources. Hypotheses were tested using path analysis.More negative social network orientation predicted worse HRQoL (p .001). This association was partially mediated by lower perceived support and more negative social exchanges.Survivors with negative social network orientation may have poorer HRQoL in part due to deficits in several key social resources. Findings highlight a subgroup at risk for poor transplant outcomes and can guide intervention development.