Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing.

PURPOSE: Measuring the effects of genomic sequencing (GS) on patients and families is critical for translational research. We aimed to develop and validate an instrument to assess parents' perceived utility of pediatric diagnostic GS. METHODS: Informed by a 5-domain conceptual model, the study comprised 5 steps: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity. Parents of pediatric patients who had received results of clinically indicated GS participated in structured cognitive interviews and 2 rounds of surveys. After eliminating items based on theory and quantitative performance, we conducted an exploratory factor analysis and calculated Pearson correlations with related instruments. RESULTS: We derived the 21-item Pediatric Diagnostic version of the GENEtic Utility (GENE-U) scale, which has a 2-factor structure that includes an Informational Utility subscale (16 items, α = 0.91) and an Emotional Utility subscale (5 items, α = 0.71). Scores can be summed to calculate a Total scale score (α = 0.87). The Informational Utility subscale was strongly associated with empowerment and personal utility of GS, and the Emotional Utility subscale was moderately associated with psychosocial impact and depression and anxiety. CONCLUSION: The pediatric diagnostic GENE-U scale demonstrated good psychometric performance in this initial evaluation and could be a useful tool for translational genomics researchers, warranting additional validation.

Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States.

In the last decade, genomic medicine education initiatives have surfaced across the spectrum of physician training in order to help address a gap in genomic medicine preparedness among physicians. The approaches are diverse and stem from the belief that 21st century physicians must be proficient in genomic medicine applications as they will be leaders in the precision medicine movement. We conducted a review of literature in genomic medicine education and training for medical students, residents, fellows, and practicing physicians with articles published between June 2015 and January 2018 to gain a picture of the current state of genomic medicine education with a focus on the United States. We found evidence of progress in the development of new and innovative educational programs and other resources aimed at increasing physician knowledge and readiness. Three overarching educational approach themes emerged, including immersive and experiential learning; interdisciplinary and interprofessional education; and electronic- and web-based approaches. This review is not exhaustive, nevertheless, it may inform future directions and improvements for genomic medicine education. Important next-steps include: (i) identifying and studying ways to best implement low-cost dissemination of genomic information; (ii) emphasizing genomic medicine education program evaluation and (iii) incorporating interprofessional and interdisciplinary initiatives. Genomic medicine education and training will become more and more relevant in the years to come as physicians increasingly interact with genomic and other precision medicine technologies.

Challenges and Benefits of an Internet-Based Intervention With a Peer Support Component for Older Adults With Depression: Qualitative Analysis of Textual Data.

BACKGROUND: Technological interventions provide many opportunities for improving the health and quality of life of older adults. However, interaction with new technologies can also cause frustration. Although these themes have been explored in extant research, much remains to be learned with regard to how the challenges of aging and technology use and the experiences of participating in a social and learning environment are interrelated. OBJECTIVE: This study aimed to perform a qualitative analysis of data collected from MoodTech, a pilot study of an internet-based intervention with a peer support component for older adults with symptoms of depression, to better understand the participants' experience of using technological interventions, including the challenges and benefits that they experienced over the course of these interventions. METHODS: We employed an inductive qualitative analysis method based on grounded theory methodology and interpretative phenomenological analysis to analyze participant textual data. These textual data were of 3 main types: (1) assignments in which participants challenged their negative thoughts, (2) status updates, and (3) comments in the peer support component of the intervention. RESULTS: We have presented the results through 3 main themes: (1) the challenges of aging as seen through the participants' comments, (2) the difficulties experienced by the participants in using MoodTech, and (3) the benefits they derived from participating. CONCLUSIONS: This paper offers several contributions concerning study participants' experiences with internet-based cognitive behavioral therapy (iCBT) interventions with a peer support component and design considerations for developing complex technological interventions that support the challenges participants experience due to aging and cognitive difficulties. First, technical issues encountered by older adults within the context of the intervention can interact with and exacerbate the insecurities they experience in life, and it is important to consider how intervention components might be designed to mitigate these issues. Second, peer support can be employed as a mechanism to facilitate communication, support, and collaborative problem solving among participants in an intervention. The insights from this paper can inform the design of iCBT interventions for older adults.

Gender differences among medical students, house staff, and faculty physicians at high risk for suicide: A HEAR report.

BACKGROUND: In comparison with the general population, physicians, and physicians-in-training are at greater risk for suicide. Although key gender differences in suicide risk factors and behaviors have been identified in the general population, the extent to which these differences apply to physicians and physicians-in-training is unclear. Here, we aimed to identify gender differences in risk factors, clinical presentation, and help-seeking behaviors of medical students, house staff, and physician faculty at high risk for suicide. METHODS: We explored gender differences among 450 physicians and trainees meeting criteria for high suicide risk on anonymous online questionnaires completed between 2009 and 2017. RESULTS: High-risk female trainees and physicians had higher mean Patient Health Questionnaire-9 (PHQ-9) scores compared with the males (11.1, standard deviation [SD] 5.1 vs. 9.8, SD 4.7) and were more likely to endorse feeling worried (73.8% vs. 61.2%), irritable (60.4% vs. 49.4%), and stressed (79.6% vs. 70%). High-risk male trainees and physicians were more likely than females to endorse suicidal thoughts (31.2% vs. 22.1%), intense anger (24.3% vs. 16.1%), drinking too much (31.2% vs. 22.3%), and recreational drug or prescription medication use without clinically appropriate follow-up (9.4% vs. 4.3%). There were no gender differences in help-seeking behaviors. CONCLUSIONS: This is the first study to report gender differences among risk factors, presentation, and help-seeking behaviors of physicians, and trainees at high risk for suicide. Our findings are mostly consistent with those of the general population and show that only a minority of at-risk men and women in healthcare sought treatment, highlighting the importance of intervention and suicide prevention in this population.

A Practical Do-It-Yourself Recruitment Framework for Concurrent eHealth Clinical Trials: Identification of Efficient and Cost-Effective Methods for Decision Making (Part 2).

BACKGROUND: The ability to successfully recruit participants for electronic health (eHealth) clinical trials is largely dependent on the use of efficient and effective recruitment strategies. Determining which types of recruitment strategies to use presents a challenge for many researchers. OBJECTIVE: The aim of this study was to present an analysis of the time-efficiency and cost-effectiveness of recruitment strategies for eHealth clinical trials, and it describes a framework for cost-effective trial recruitment. METHODS: Participants were recruited for one of 5 eHealth trials of interventions for common mental health conditions. A multipronged recruitment approach was used, including digital (eg, social media and Craigslist), research registry-based, print (eg, flyers and posters on public transportation), clinic-based (eg, a general internal medicine clinic within an academic medical center and a large nonprofit health care organization), a market research recruitment firm, and traditional media strategies (eg, newspaper and television coverage in response to press releases). The time costs and fees for each recruitment method were calculated, and the participant yield on recruitment costs was calculated by dividing the number of enrolled participants by the total cost for each method. RESULTS: A total of 777 participants were enrolled across all trials. Digital recruitment strategies yielded the largest number of participants across the 5 clinical trials and represented 34.0% (264/777) of the total enrolled participants. Registry-based recruitment strategies were in second place by enrolling 28.0% (217/777) of the total enrolled participants across trials. Research registry-based recruitment had a relatively high conversion rate from potential participants who contacted our center for being screened to be enrolled, and it was also the most cost-effective for enrolling participants in this set of clinical trials with a total cost per person enrolled at US $8.99. CONCLUSIONS: On the basis of these results, a framework is proposed for participant recruitment. To make decisions on initiating and maintaining different types of recruitment strategies, the resources available and requirements of the research study (or studies) need to be carefully examined.

Attitudes Toward School-Based Surveillance of Adolescents' Social Media Activity: Convergent Parallel Mixed Methods Survey.

BACKGROUND: US schools increasingly implement commercially available technology for social media monitoring (SMM) of students, purportedly to address youth mental health and school safety. However, little is known about how SMM is perceived by stakeholders, including the students who are the focus of these efforts. OBJECTIVE: We aimed to assess attitudes toward SMM in schools among 4 stakeholder groups and examine reasons for holding supportive, neutral, or unsupportive views toward the technology. We also sought to explore whether any differences in attitudes were associated with binary sex, race, ethnicity, sexual orientation, or gender identity. METHODS: In October 2019, we conducted a convergent parallel mixed methods web-based survey of young adults (aged 18-22 y; n=206), parents (n=205), teachers (n=77), and school administrators (n=41) via Qualtrics web-based panels. We included Likert-type survey items to assess perceived benefits, risks, and overall support of SMM in schools and test for differences based on stakeholder group or demographic characteristics. We also included open-ended questions, and the responses to these items were analyzed using thematic content analysis of reasons given for holding supportive, neutral, or unsupportive views. RESULTS: The tests of group differences showed that young adults perceived lower benefit (P<.001) as well as higher risk (P<.001) and expressed lower overall support (P<.001) of the use of SMM in schools than all other stakeholder groups. Individuals identifying as nonheterosexual also perceived lower benefit (P=.002) and higher risk (P=.02) and expressed lower overall support (P=.02) than their heterosexual counterparts; respondents who identified as people of racial and ethnic minorities also perceived higher risk (P=.04) than their White counterparts. Qualitative thematic content analysis revealed greater nuance in concerns about SMM. Specifically, the primary reasons given for not supporting SMM across all stakeholder groups were (1) skepticism about its utility, (2) perceived privacy violations, and (3) fears of inappropriate or discriminatory use of the data. Within the young adult group in particular, concerns were also raised about (4) unintended and adverse consequences, including the erosion of trust between students and school institutions and administrators, and the chronic adverse effects of constant or prolonged surveillance. Thematic analysis also showed that individuals in every stakeholder group who indicated overall support of SMM were likely to cite the potential for enhanced school safety as the reason. Young adults' overall stances toward SMM were the most polarized, either strongly for or strongly against SMM, and responses from teachers indicated similar polarization but more often favored support of SMM in schools. CONCLUSIONS: This study found differing perspectives among stakeholder groups regarding SMM in schools. More work is needed to assess the ways in which this type of surveillance is being implemented and the range and complexity of possible effects, particularly on students.

Measures of empathy and compassion: A scoping review.

Evidence to date indicates that compassion and empathy are health-enhancing qualities. Research points to interventions and practices involving compassion and empathy being beneficial, as well as being salient outcomes of contemplative practices such as mindfulness. Advancing the science of compassion and empathy requires that we select measures best suited to evaluating effectiveness of training and answering research questions. The objective of this scoping review was to 1) determine what instruments are currently available for measuring empathy and compassion, 2) assess how and to what extent they have been validated, and 3) provide an online tool to assist researchers and program evaluators in selecting appropriate measures for their settings and populations. A scoping review and broad evidence map were employed to systematically search and present an overview of the large and diverse body of literature pertaining to measuring compassion and empathy. A search string yielded 19,446 articles, and screening resulted in 559 measure development or validation articles reporting on 503 measures focusing on or containing subscales designed to measure empathy and/or compassion. For each measure, we identified the type of measure, construct being measured, in what context or population it was validated, response set, sample items, and how many different types of psychometrics had been assessed for that measure. We provide tables summarizing these data, as well as an open-source online interactive data visualization allowing viewers to search for measures of empathy and compassion, review their basic qualities, and access original citations containing more detail. Finally, we provide a rubric to help readers determine which measure(s) might best fit their context.

Associations Between Privacy-Related Constructs and Depression and Suicide Risk in Health Care Professionals, Trainees, and Students.

PURPOSE: The University of California, San Diego screens health care professionals, trainees, and students for depression and suicide risk. Individuals complete a voluntary, anonymous online screening tool and choose whether to provide personal demographic information. This study assessed the relationship between privacy-related constructs and self-rated depression and suicide risk. METHOD: The authors analyzed responses to the screening tool collected from January 2018 to December 2019. Measures of depression, suicidal ideation and behaviors, and worry about stigma for seeking mental health services (i.e., privacy-related concern) were gathered. The number of demographic item nonresponses (i.e., age, gender, ethnicity/race, professional position) was operationalized as privacy-related behavior. Linear and logistic regression models were used to determine associations between privacy-related constructs (concern and behavior) and depression and suicide measures. RESULTS: A total of 1,224 respondents were included. On average, respondents reported mild depression (mean = 9.12, standard deviation = 5.94), but 43% (524/1,224) reported at least moderate depression. One in 5 respondents (248/1,224) reported worry about stigma for seeking mental health services, and more than 17% (212/1,224) skipped at least 1 demographic question. Privacy-related concern was statistically significantly and positively associated with recent depression and suicidal ideation and behaviors (odds ratios [ORs] = 3.13-7.02; 95% confidence interval [CI], 2.23-19.20; P's < .001) and with lifetime suicide attempts (OR = 1.76; 95% CI, 1.08-2.86; P = .02). Privacy-related behavior was statistically significantly and positively associated with suicide action (OR = 2.23; 95% CI, 1.24-4.02; P = .008). CONCLUSIONS: Privacy-related constructs may be meaningful correlates of mental health as respondents who endorsed these constructs had increased odds of worse depression and suicidal ideation and behaviors. Considering privacy-related constructs may be useful for identifying health care professionals, trainees, and students experiencing distress and in need of imminent mental health resources.

Relationship between burnout and Major Depressive Disorder in health professionals: A HEAR report.

BACKGROUND: Burnout is a "normal" albeit concerning response to workplace stress, whereas Major Depressive Disorder (MDD) is a serious illness associated with impairment and suicide risk. Because of symptomatic overlap between the two conditions and MDD-associated stigma, individuals reporting work-related stress and depression often are "diagnosed" with burnout at the expense of recognizing and treating MDD. Our study aimed to leverage organizational implementation of the American Foundation of Suicide Prevention's Interactive Screening Program to elucidate relationships among burnout, depression, and other suicide risk factors. METHODS: 2281 of about 30,000 (~7.6 %) medical trainees, staff, and faculty responded to an anonymous online stress and depression questionnaire. Respondents were grouped into four cohorts: screened positive for burnout alone (n = 439, 19 %), depression alone (n = 268, 12 %), both conditions (n = 759, 33 %), or neither condition (n = 817, 36 %), and compared on multiple measures of distress and other suicide risk factors. RESULTS: Burnout alone and depression alone each predicted greater distress and suicide risk compared with neither condition. Depression was a stronger predictor than burnout and demonstrated a consistent association with other suicide risk factors regardless of whether burnout was present. In contrast, burnout was not consistently associated with other suicide risk factors when depression was present. LIMITATIONS: The sample was limited to one state-supported academic medical center; to individuals who elected to take the online survey; and relied on a single item, non-validated measure of burnout. CONCLUSION: When emotional distress is reported by healthcare workers, attention should not stop at "burnout," as burnout frequently comingles with clinical depression, a serious and treatable mental health condition.

Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development.

BACKGROUND AND OBJECTIVES: Successful clinical integration of genomic sequencing (GS) requires evidence of its utility. While GS potentially has benefits (utilities) or harms (disutilities) across multiple domains of life for both patients and their families, there is as yet no empirically informed conceptual model of these effects. Our objective was to develop an empirically informed conceptual model of perceived utility of GS that captures utilities and disutilities for patients and their families across diverse backgrounds. METHODS: We took a patient-centered approach, in which we began with a review of existing literature followed by collection of primary interview data. We conducted semi-structured interviews to explore types of utility in a clinically and sociopolitically diverse sample of 60 adults from seven Clinical Sequencing Evidence-Generating Research (CSER) consortium projects. Interviewees had either personally received, or were parents of a child who had received, GS results. Qualitative data were analyzed using thematic analysis. Findings from interviews were integrated with existing literature on clinical and personal utility to form the basis of an initial conceptual model that was refined based on expert review and feedback. RESULTS: Five key utility types that have been previously identified in qualitative literature held up as primary domains of utility and disutility in our diverse sample. Interview data were used to specify and organize subdomains of an initial conceptual model. After expert refinement, the five primary domains included in the final model are clinical, emotional, behavioral, cognitive, and social, and several subdomains are specified within each. CONCLUSION: We present an empirically informed conceptual model of perceived utility of GS. This model can be used to guide development of instruments for patient-centered outcome measurement that capture the range of relevant utilities and disutilities and inform clinical implementation of GS.

Impacts of personal DNA ancestry testing.

Consumer uptake of direct-to-consumer (DTC) DNA ancestry testing is accelerating, yet few empirical studies have examined test impacts on recipients despite the DTC ancestry industry being two decades old. Participants in a longitudinal cohort study of response to health-related DTC genomic testing also received personal DNA ancestry testing at no additional cost. Baseline survey data from the primary study were analyzed together with responses to an additional follow-up survey focused on the response to ancestry results. Ancestry results were generated for 3466 individuals. Of those, 1317 accessed their results, and 322 individuals completed an ancestry response survey, in other words, approximately one in ten who received ancestry testing responded to the survey. Self-reported race/ethnicity was predictive of those most likely to view their results. While 46% of survey responders (N = 147) reported their ancestry results as surprising or unexpected, less than 1% (N = 3) were distressed by them. Importantly, however, 21% (N = 67) reported that their results reshaped their personal identity. Most (81%; N = 260) planned to share results with family, and 12% (N = 39) intended to share results with a healthcare provider. Many (61%; N = 196) reported test benefits (e.g., health insights), while 12% (N = 38) reported negative aspects (e.g., lack of utility). Over half (N = 162) reported being more likely to have other genetic tests in the future. DNA ancestry testing affected individuals with respect to personal identity, intentions to share genetic information with family and healthcare providers, and the likelihood to engage with other genetic tests in the future. These findings have implications for medical care and research, specifically, provider readiness to engage with genetic ancestry information.

Direct-to-Consumer Genetic Ancestry Testing in Clinical Encounters: Perspectives From Psychotherapy Cases.

Despite the fact that direct-to-consumer (DTC) genetic ancestry testing (GAT) has been available for two decades, there is a lack of evidence-based guidance for clinicians who may work with patients who raise the topic of DTC-GAT. Although DTC-GAT accounts for the majority of the DTC genetic testing marketplace, it has received less attention than health-related testing from scientific and clinical communities. Importantly, however, from our personal experience, patients have been raising the topic of DTC-GAT in clinical encounters, including psychotherapy sessions. In this viewpoint, we present two cases of patients seen by two of the authors to raise awareness of this issue. We describe the implications of DTC-GAT for patients and clinicians, offer recommendations, and suggest future directions.

Physician Communication of Genomic Results in a Diagnostic Odyssey Case Series.

BACKGROUND AND OBJECTIVES: The availability of whole genome sequencing (WGS) is increasing in clinical care, and WGS is a promising tool in diagnostic odyssey cases. Physicians' ability to effectively communicate genomic information with patients, however, is unclear. In this multiperspective study, we assessed physicians' communication of patient genome sequencing information in a diagnostic odyssey case series. METHODS: We evaluated physician communication of genome sequencing results in the context of an ongoing study of the utility of WGS for the diagnosis of rare and idiopathic diseases. A modified version of the Medical Communication Competence Scale was used to compare patients' ratings of their physicians' communication of general medical information to communication of genome sequencing information. Physician self-ratings were also compared with patient ratings. RESULTS: A total of 47 patients, parents, and physicians across 11 diagnostic odyssey cases participated. In 6 of 11 cases (54%), the patient respondent rated the physician's communication of genome sequencing information as worse than that of general medical information. In 9 of 11 cases (82%), physician self-ratings of communication of genome sequencing information were worse than the patient respondent's rating. Identification of a diagnosis via WGS was positively associated with physician self-ratings (P = .021) but was not associated with patient respondent ratings (P = .959). CONCLUSIONS: These findings reveal that even in diagnostic odyssey cases, in which genome sequencing may be clinically beneficial, physicians may not be well-equipped to communicate genomic information to patients. Future studies may benefit from multiperspective approaches to assessing and understanding physician-patient communication of genome-sequencing information.

How Could Commercial Terms of Use and Privacy Policies Undermine Informed Consent in the Age of Mobile Health?

Granular personal data generated by mobile health (mHealth) technologies coupled with the complexity of mHealth systems creates risks to privacy that are difficult to foresee, understand, and communicate, especially for purposes of informed consent. Moreover, commercial terms of use, to which users are almost always required to agree, depart significantly from standards of informed consent. As data use scandals increasingly surface in the news, the field of mHealth must advocate for user-centered privacy and informed consent practices that motivate patients' and research participants' trust. We review the challenges and relevance of informed consent and discuss opportunities for creating new standards for user-centered informed consent processes in the age of mHealth.

Health App Use Among Individuals With Symptoms of Depression and Anxiety: A Survey Study With Thematic Coding.

BACKGROUND: Researchers have largely turned to commercial app stores, randomized trials, and systematic reviews to make sense of the mHealth landscape. Few studies have approached understanding by collecting information from target end users. The end user perspective is critical as end user interest in and use of mHealth technologies will ultimately drive the efficacy of these tools. OBJECTIVE: The purpose of this study was to obtain information from end users of mHealth technologies to better understand the physical and mental health apps people use and for what purposes. METHODS: People with depressive or anxious symptoms (N=176) seeking entry into a trial of mental health and well-being apps for Android devices completed online questionnaires assessing depression and anxiety (Patient Health Questionnaire-9 and Generalized Anxiety Disorder-7), past and current mental health treatment-seeking behavior, overall mobile device use, and use of mobile health apps. Participants reported the physical health and mental health apps on their devices and their reasons for using them. Data were extracted from the participant self-reports and apps and app purposes were coded in order to categorize them. RESULTS: Participants were largely white, middle-aged females from the Midwest region of the United States recruited via a health care organization and Web-based advertising (135 female, 41 male, mean age 38.64 years, age range 19-75 years.) Over three-quarters (137/176, 77.8%) of participants indicated having a health app on their device. The top 3 kinds of apps were exercise, fitness, and pedometers or heart rate monitoring apps (93/176, 52.8%); diet, food, or calorie counting apps (65/177, 36.9%); and mental health/wellness apps (46/177, 26.1%). The mean number of mobile physical and mental health apps on a participant's phone was 2.15 (SD 3.195). Of 176 participants, 107 (60.8%) specifically reported the top 5 health apps that they used and their purposes. Across the 107 participants, a total of 285 apps were reported, with 139 being unique apps. The majority of these apps were free (129/139, 92.8%). Almost two-thirds of participants (67/107, 62.6%) reported using health apps at least on a daily basis. CONCLUSIONS: Among those seeking support for their well-being via physical and mental health apps, people are using a variety of health apps. These people use health apps on a daily basis, especially free apps. The most common reason for using a health app is to track some health-related data; for mental health apps specifically, training or habit building was the most popular reason. Understanding the end user perspective is important because it allows us to build on the foundation of previously established mHealth research and may help guide future work in mHealth. TRIAL REGISTRATION: Clinicaltrials.gov NCT02176226; https://clinicaltrials.gov/ct2/show/NCT02176226 (Archived by WebCite at http://www.webcitation.org/6rGc1MGyM).