Participant use and communication of findings from exome sequencing: a mixed-methods study.
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ABSTRACT:
SUBMITTER: Lewis KL
PROVIDER: S-EPMC4860179 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Publications
Participant use and communication of findings from exome sequencing: a mixed-methods study.
Lewis Katie L KL Hooker Gillian W GW Connors Philip D PD Hyams Travis C TC Wright Martha F MF Caldwell Samantha S Biesecker Leslie G LG Biesecker Barbara B BB
Genetics in medicine : official journal of the American College of Medical Genetics 20151105 6
<h4>Purpose</h4>This study investigated how genome sequencing results affect health behaviors, affect, and communication.<h4>Methods</h4>We report on 29 participants who received a sequence result in the ClinSeq study, a cohort of well-educated, postreproductive volunteers. A mixed-methods design was used to explore respondents' use, communication, and perceived utility of results.<h4>Results</h4>Most participants (72%) shared their result with at least one health-care provider, and 31% reported ...[more]
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Project description:Ethnically specific data on genetic variation are crucial for understanding human biology and for clinical interpretation of variant pathogenicity. We analyzed data obtained by deep sequencing 1303 Korean whole exomes; the data were generated by three independent whole exome sequencing projects (named the KOEX study). The primary focus of this study was to comprehensively analyze the variant statistics, investigate secondary findings that may have clinical actionability, and identify loci that should be cautiously interpreted for pathogenicity. A total of 495 729 unique variants were identified at exonic regions, including 169 380 nonsynonymous variants and 4356 frameshift insertion/deletions. Among these, 76 607 were novel coding variants. On average, each individual had 7136 nonsynonymous single-nucleotide variants and 74 frameshift insertion/deletions. We classified 13 pathogenic and 13 likely pathogenic variants in 56 genes that may have clinical actionability according to the guidelines of the American College of Medical Genetics and Genomics, and the Association for Molecular Pathology. The carrier frequency of these 26 variants was 2.46% (95% confidence interval 1.73-3.46). To identify loci that require cautious interpretation in clinical sequencing, we identified 18 genes that are prone to sequencing errors, and 671 genes that are highly polymorphic and carry excess nonsynonymous variants. The catalog of identified variants, its annotation and frequency information are publicly available (http://koex.snu.ac.kr). These findings should be useful resources for investigating ethnically specific characteristics in human health and disease.
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Project description:IntroductionGeneral practice data, particularly when combined with hospital and other health service data through data linkage, are increasingly being used for quality assurance, evaluation, health service planning and research. In this study, we explored community views on sharing general practice data for secondary purposes, including research, to establish what concerns and conditions need to be addressed in the process of developing a social licence to support such use.MethodsWe used a mixed-methods approach with focus groups (November-December 2021), followed by a cross-sectional survey (March-April 2022).ResultsThe participants in this study strongly supported sharing general practice data with the clinicians responsible for their care, and where there were direct benefits for individual patients. Over 90% of survey participants (N = 2604) were willing to share their general practice information to directly support their health care, that is, for the primary purpose of collection. There was less support for sharing data for secondary purposes such as research and health service planning (36% and 45% respectively in broad agreement) or for linking general practice data to data in the education, social services and criminal justice systems (30%-36%). A substantial minority of participants were unsure or could not see how benefits would arise from sharing data for secondary purposes. Participants were concerned about the potential for privacy breaches, discrimination and data misuse and they wanted greater transparency and an opportunity to consent to data release.ConclusionThe findings of this study suggest that the public may be more concerned about sharing general practice data for secondary purposes than they are about sharing data collected in other settings. Sharing general practice data more broadly will require careful attention to patient and public concerns, including focusing on the factors that will sustain trust and legitimacy in general practice and GPs.Patient and public contributionMembers of the public were participants in the study. Data produced from their participation generated study findings.Clinical trial registrationNot applicable.
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Project description:BACKGROUND:Research in health communication frequently views it as an information dissemination strategy, thus neglecting the intricacies involved in communicating a sensitive topic such as menstruation. The social patterning in menstrual communication, a taboo in India, and its consequent health-effects on adolescents are under-studied. METHODS:We studied the social determinants of menstrual communication influencing menstrual- health through semi-structured interviews of 21 boys and girls each, 12 key-respondent interviews, followed by a cross-sectional survey of 1421 adolescents from Nashik district, India. We thematically analysed the qualitative data and fit multivariable logistic regression to model risk ratios. FINDINGS:We found social disparities in adolescents' experiences of communication taboo regarding menstruation. While boys curbed their curiosity about the topic, girls too faced resistance to their experience-sharing and treatment-seeking for menstrual illnesses. The inequality in menstruation-related communication was evident as more boys than girls faced avoidance to their questions [IRR at 95%CI: 2.75 (2.04, 3.71)]], and fewer tribal than rural girls were communicated severe taboos (OR at 95% CI: 0.18 (0.09, 0.36))]. Girls who had been communicated severe (versus no/mild) taboos reported greater stress about menstrual staining (IRR at 95% CI: 1.31 (1.10, 1.57)], emphasizing the health consequences of such communication inequalities. CONCLUSIONS:Our study highlights the need to address gender and setting-specific communication experiences of adolescents in India, a patriarchal society. The inequality in communication needs attention as it creates unequal patterns in Indian adolescents' menstrual health and experiences, which may manifest as inequities in reproductive health-related outcomes even in their adult-lives.
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Project description:ImportanceLong-term prognosis informs clinical and personal decisions for older adults with late-life disability. However, many clinicians worry that telling patients their prognosis may cause harm.ObjectiveTo explore the safety of and reactions to prognosis communication in late-life disability.DesignParticipants estimated their own life expectancy and were then presented their calculated life expectancy using a validated prognostic index. We used a semi-structured interview guide to ask for their reactions. Qualitative data were analyzed using constant comparative analysis. Potential psychological and behavioral outcomes in response to receiving one's calculated prognosis were recorded and re-assessed 2-4 weeks later.SettingCommunity-dwelling older adults age 70+ residing in the San Francisco Bay Area.ParticipantsThirty five older adults with a median age of 80 requiring assistance with ≥1 Activity of Daily Living.ResultsSelf-estimates of life expectancy were similar to calculated results for 16 participants. 15 estimated their life expectancy to be longer than their calculated life expectancy by >2 years, while 4 shorter by >2 years. An overarching theme of, "fitting life expectancy into one's narrative" emerged from qualitative analysis. Discussing life expectancy led participants to express how they could alter their life expectancy (subtheme "locus of control"), how they saw their present health (subtheme "perceived health"), and their hopes and fears for the remaining years of their lives (subtheme "outlook on remaining years"). Feelings of anxiety and sadness in reaction to receiving calculated prognosis were rare.Conclusions and relevanceAbout half of the disabled older adults' self-estimates of prognosis were similar to calculated estimates. Evidence of sadness or anxiety was rare. These data suggest that in most cases, clinicians may offer to discuss prognosis.
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Project description:BACKGROUND:Identifying effective means of communication between patients and their health care providers has a positive impact on patients' satisfaction, adherence, and health-related outcomes. OBJECTIVE:This study aimed to identify the impact of patients' age on their communication and technology preferences when managing their health. We hypothesize that a patient's age affects their communication and technology preferences when interacting with clinicians and managing their health. METHODS:A mixed methods study was conducted to identify the preferences of patients with cardiovascular diseases. Results were analyzed based on the patients' age. Grounded theory was used to analyze the qualitative data. Patients were recruited based on age, gender, ethnicity, and zip code. RESULTS:A total of 104 patients were recruited: 34 young adults (19-39 years), 33 middle aged (40-64), and 37 senior citizens (>65). Young adults (mean 8.29, SD 1.66) reported higher computer self-efficacy than middle-aged participants (mean 5.56, SD 3.43; P<.05) and senior citizens (mean 47.55, SD 31.23; P<.05). Qualitative analysis identified the following three themes: (1) patient engagement (young adults favored mobile technologies and text messaging, middle-aged patients preferred phone calls, and senior citizens preferred direct interactions with the health care provider); (2) patient safety (young adults preferred electronic after-visit summaries [AVS] and medication reconciliation over the internet; middle-aged patients preferred paper-based or emailed AVS and medication reconciliation in person; senior citizens preferred paper-based summaries and in-person medication reconciliation); (3) technology (young adults preferred smartphones and middle-aged patients and senior citizens preferred tablets or PCs). Middle-aged patients were more concerned about computer security than any other group. A unique finding among senior citizens was the desire for caregivers to have access to their personal health record (PHR). CONCLUSIONS:Patients of different ages have different communication and technology preferences and different preferences with respect to how they would like information presented to them and how they wish to interact with their provider. The PHR is one approach to improving patient engagement, but nontechnological options need to be sustained to support all patients.
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Project description:BACKGROUND:Feedback is essential for improving the skills of continuing medical education (CME) presenters. However, there has been little research on improving the quality of feedback to CME presenters. OBJECTIVES:To validate an instrument for generating balanced and behavior-specific feedback from a national cross-section of participants to presenters at a large internal medicine CME course. DESIGN, SETTING, AND PARTICIPANTS:A prospective, randomized validation study with qualitative data analysis that included all 317 participants at a Mayo Clinic internal medicine CME course in 2009. MEASUREMENTS:An 8-item (5-point Likert scales) CME faculty assessment enhanced study form (ESF) was designed based on literature and expert review. Course participants were randomized to a standard form, a generic study form (GSF), or the ESF. The dimensionality of instrument scores was determined using factor analysis to account for clustered data. Internal consistency and interrater reliabilities were calculated. Associations between overall feedback scores and presenter and presentation variables were identified using generalized estimating equations to account for multiple observations within talk and speaker combinations. Two raters reached consensus on qualitative themes and independently analyzed narrative entries for evidence of balanced and behavior-specific comments. RESULTS:Factor analysis of 5,241 evaluations revealed a uni-dimensional model for measuring CME presenter feedback. Overall internal consistency (Cronbach alpha?=?0.94) and internal consistency reliability (ICC range 0.88-0.95) were excellent. Feedback scores were associated with presenters' academic ranks (mean score): Instructor (4.12), Assistant Professor (4.38), Associate Professor (4.56), Professor (4.70) (p?=?0.046). Qualitative analysis revealed that the ESF generated the highest numbers of balanced comments (GSF?=?11, ESF?=?26; p?=?0.01) and behavior-specific comments (GSF?=?64, ESF?=?104; p?=?0.001). CONCLUSIONS:We describe a practical and validated method for generating balanced and behavior-specific feedback for CME presenters in internal medicine. Our simple method for prompting course participants to give balanced and behavior-specific comments may ultimately provide CME presenters with feedback for improving their presentations.
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Project description:BackgroundSimulations are a critical component of anesthesia education, and ways to broaden their delivery and accessibility should be studied. The primary aim was to characterize anesthesiology resident, fellow, and faculty experience with augmented reality (AR) simulations. The secondary aim was to explore the feasibility of quantifying performance using integrated eye-tracking technology.MethodsThis was a prospective, mixed-methods study using qualitative thematic analysis of user feedback and quantitative analysis of gaze patterns. The study was conducted at a large academic medical center in Northern California. Participants included 7 anesthesiology residents, 6 cardiac anesthesiology fellows, and 5 cardiac anesthesiology attendings. Each subject participated in an AR simulation involving resuscitation of a patient with pericardial tamponade. Postsimulation interviews elicited user feedback, and eye-tracking data were analyzed for gaze duration and latency.ResultsThematic analysis revealed 5 domains of user experience: global assessment, spectrum of immersion, comparative assessment, operational potential, and human-technology interface. Participants reported a positive learning experience and cited AR technology's portability, flexibility, and cost-efficiency as qualities that may expand access to simulation training. Exploratory analyses of gaze patterns suggested that trainees had increased gaze duration of vital signs and gaze latency of malignant arrythmias compared with attendings. Limitations of the study include lack of a control group and underpowered statistical analyses of gaze data.ConclusionsThis study suggests positive user perception of AR as a novel modality for medical simulation training. AR technology may increase exposure to simulation education and offer eye-tracking analyses of learner performance.
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