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

INTRODUCTION: Measuring 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 five-domain conceptual model, the study comprised five 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 two 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 two-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. DISCUSSION: 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.

Compassion and equity-focused clinical genomics training for health professional learners.

There remains an urgent need for expanded genomics training in undergraduate medical education, especially as genetic and genomic assessments become increasingly important in primary care and routine clinical practice across specialties. Physician trainees continue to report feeling poorly prepared to provide effective consultation or interpretation of genomic test results. Here we report on the development, pilot implementation, and evaluation of an elective offering for pre-clinical medical students called the Sanford Precision Health Scholars Immersive Learning Experience (PHS), which was designed leveraging genetic counseling expertise as one means to address this need. This 9-week course, piloted in Fall 2021 at UC San Diego, afforded students the opportunity to build technical skills and competencies in clinical genomics while identifying, addressing, and engaging with pervasive health disparities in genomics. Interactive exercises focused students' learning on strategies for empathic and compassionate patient interactions while supporting the application of concepts and knowledge to future practice. Upon completion of the course, participants reported increases in confidence related to skills required for clinical genomics practice. Drawing on learnings from this pilot implementation, recommendations for refining the program include deepening pedagogical engagement with ethical issues, expanding the offering to trainees across health professions, including pharmacy students, and incorporating an optional experiential learning component. Educational offerings, like PHS, that are designed with the input of genetic counseling expertise may ease pressures on the genetic counseling profession by building a more genomic-literate healthcare workforce that can better support efforts to expand access for patients.

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.

Availability of Recreation Facilities and Parks In Relation to Adolescent Participation in Organized Sports and Activity Programs.

Most adolescents do not meet physical activity guidelines, so understanding facilitators and barriers is important. This study used surveys and geocoded location data to examine associations of availability of parks and recreation facilities with adolescent-reported participation in organized team sports and physical activity classes. The study was conducted with 928 adolescents aged 12-17 years, plus one parent/caretaker, recruited from two regions of the US. Adolescents' participation in teams and classes was positively associated with parents' perceptions of multiple available recreation environments, but not with objectively-measured availability. Having multiple nearby parks and recreation facilities may provide adolescents with more options for participating in preferred organized team sports and activity classes.

Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining.

PURPOSE: Diagnostic genomic research has the potential to directly benefit participants. This study sought to identify barriers to equitable enrollment of acutely ill newborns into a diagnostic genomic sequencing research study. METHODS: We reviewed the 16-month recruitment process of a diagnostic genomic research study enrolling newborns admitted to the neonatal intensive care unit at a regional pediatric hospital that primarily serves English- and Spanish-speaking families. Differences in eligibility, enrollment, and reasons for not enrolling were examined as functions of race/ethnicity and primary spoken language. FINDINGS: Of the 1248 newborns admitted to the neonatal intensive care unit, 46% (n = 580) were eligible, and 17% (n = 213) were enrolled. Of the 16 languages represented among the newborns' families, 4 (25%) had translated consent documents. Speaking a language other than English or Spanish increased a newborn's likelihood of being ineligible by 5.9 times (P < 0.001) after controlling for race/ethnicity. The main reason for ineligibility was documented as the clinical team declined having their patient recruited (41% [51 of 125]). This reason significantly affected families who spoke languages other than English or Spanish and was able to be remediated with training of the research staff. Stress (20% [18 of 90]) and the study intervention(s) (20% [18 of 90]) were the main reasons given for not enrolling. IMPLICATIONS: This analysis of eligibility, enrollment, and reasons for not enrolling in a diagnostic genomic research study found that recruitment generally did not differ as a function of a newborn's race/ethnicity. However, differences were observed depending on the parent's primary spoken language. Regular monitoring and training can improve equitable enrollment into diagnostic genomic research. There are also opportunities at the federal level to improve access to those with limited English proficiency and thus decrease disparities in representation in research participation.

Compassion as a tool for allyship and anti-racism.

Racist systems, policies, and institutions subvert the quality of life for minoritized individuals and groups, across all indicators, from education and employment, to health, to community safety. Reforms to address systemic racism may be accelerated with greater support from allies who identify with the dominant groups that derive advantage from such systems. Although enhancing empathy and compassion for impacted individuals and groups may foster greater allyship with and support of minoritized communities, little work to date has assessed the relationships among compassion, empathy, and allyship. After reviewing current work in the area, this perspective offers insights into the utility and specific components of a compassion-based framework that can be used to combat racism, using findings from a survey study in which we investigated the relationship between validated psychometric measures of compassion and allyship with minoritized communities. Several subdomains of compassion, as measured among individuals identifying as non-Black, correlate significantly with levels of felt allyship with Black or African American communities. These findings inform recommendations for compassion-focused research, including development and testing of interventions to promote allyship, advocacy, and solidarity with minoritized groups, and support efforts to undo longstanding structural racisms that have patterned inequality in the United States.

Public mental health during and after the SARS-CoV-2 pandemic: Opportunities for intervention via emotional self-efficacy and resilience.

Importance: During the pandemic, the number of United States adults reporting clinically significant symptoms of anxiety and depression sky-rocketed, up from 11% in 2020 to more than 40% in 2021. Our current mental healthcare system cannot adequately accommodate the current crisis; it is therefore important to identify opportunities for public mental health interventions. Objective: Assess whether modifiable emotional factors may offer a point of intervention for the mental health crisis. Design setting and participants: From January 13 to 15, 2022, adults living in the United States were recruited via Amazon Mechanical Turk to complete an anonymous survey. Main outcomes and measures: Linear regressions tested whether the primary outcomes during the SARS-CoV-2 pandemic (depressive and anxiety symptoms, burnout) were associated with hypothesized modifiable risk factors (loneliness and need for closure) and hypothesized modifiable protective factors (the ability to perceive emotions and connect with others emotionally; emotion-regulation efficacy; and resilience, or the ability to "bounce back" after negative events). Results: The sample included 1,323 adults (mean [SD] age 41.42 [12.52] years; 636 women [48%]), almost half of whom reported clinically significant depressive (29%) and/or anxiety (15%) symptoms. Approximately 90% of participants indicated feeling burned out at least once a year and nearly half of participants (45%) felt burned out once a week or more. In separate analyses, depressive symptoms (Model A), anxiety symptoms (Model B), and burnout (Model C) were statistically significantly associated with loneliness (ßModel A, 0.38; 95% CI, 0.33-0.43; ßModel B, 0.30; 95% CI, 0.26-0.36; ßModel C, 0.34; 95% CI, 0.28-0.41), need for closure (ßModel A, 0.09; 95% CI, 1.03-1.06; ßModel B, 0.13; 95% CI, 0.97-0.17; ßModel C, 0.11; 95% CI, 0.07-0.16), recent stressful life events (ßModel A, 0.14; 95% CI, 0.10-0.17; ßModel B, 0.14; 95% CI, 0.11-0.18; ßModel C, 0.10; 95% CI, 0.06-0.15), and resilience (ßModel A, -0.10; 95% CI, -0.15 to -0.05; ßModel B, -0.18; 95% CI, -0.23 to -0.13; ßModel C, -0.11; 95% CI, -0.17 to -0.05). In addition, depressive and anxiety symptoms were associated with emotional self-efficacy (ßModel A, -0.17; 95% CI, -0.22 to -0.12; ßModel B, -0.11; 95% CI, -0.17 to -0.06), and beliefs about the malleability of emotions (ßModel A, -0.08; 95% CI, -0.12 to -0.03; ßModel B, -0.09; 95% CI, -0.13 to -0.04). Associations between loneliness and symptoms were weaker among those with more emotional self-efficacy, more endorsement of emotion malleability beliefs, and greater resilience, in separate models. Analyses controlled for recent stressful life events, optimism, and social desirability. Conclusion and relevance: Public mental health interventions that teach resilience in response to negative events, emotional self-efficacy, and emotion-regulation efficacy may protect against the development of depressive symptoms, anxiety, and burnout, particularly in the context of a collective trauma. Emotional self-efficacy and regulation efficacy may mitigate the association between loneliness and mental health, but loneliness prevention research is also needed to address the current mental health crisis.

Learning to Practice Compassionate Care: Medical Students Discuss Their Most Memorable Lessons.

Compassion in interactions between physicians and patients can have a therapeutic effect independent of the technical medical treatment provided. However, training physicians to effectively communicate compassion is challenging. This study explores how medical students experienced training focused on interacting with patients by examining students' reports of particularly memorable lessons. Six focus groups were conducted with medical students (total n = 48) in their fourth year of training. We report on responses from students to the question, "What was the most memorable lesson you have learned about interacting with patients?" Students discussed lessons aimed at patient-centered physical navigation, interpersonal navigation, and perspective taking. Concerns were raised that navigation techniques felt inauthentic and that perspective taking was too time consuming to be sustainable in actual practice. While perspective-taking exercises should motivate medical students to treat every patient with dignity by demonstrating the complexity of others' lives, if students assume that full understanding is a prerequisite to delivery of compassionate care, they may dismiss explicit techniques of patient-centered care as inauthentic and perceive compassion and efficiency as mutually exclusive.

Association of compassion and empathy with prosocial health behaviors and attitudes in a pandemic.

This investigation examined how dispositional compassion and empathy were associated with prosocial behaviors and attitudes in the SARS-CoV-2 pandemic. Every two weeks from March 22 to June 15, 2020, we fielded a survey to a new cohort of adults in the U.S. Compassion related to whether one stayed home to protect others, more hours spent staying home and distancing from others, and more frequent mask wearing in public, in the past two weeks. Compassion also related to greater perceived ability to help others who were negatively affected. Empathy related to more endorsement of understanding others' fear of COVID-19, and less endorsement of the view that others were overreacting to COVID-19. There was an interaction between empathy and political ideology, suggesting that empathy may matter for understanding others' fear among those with more conservative-leaning beliefs. Empathy also related to greater understanding that sheltering-in-place helps prevent the spread of COVID-19. Findings suggest that messaging and interventions to increase compassion and empathy may promote public health behaviors during a pandemic regardless of political orientation. Targeting empathy may be one way to reach individuals with more conservative political beliefs, and it is important to use an evidence-based approach accounting for political party differences in motivated reasoning.

California Residents' Perceptions of Gene Drive Systems to Control Mosquito-Borne Disease.

Scientists developing gene drive mosquitoes for vector control must understand how residents of affected areas regard both the problem of mosquito-borne disease and the potential solutions offered by gene drive. This study represents an experiment in public engagement at an early stage of technology development, intended to inform lab scientists about public attitudes toward their research and inspire consideration and conversation about the social ramifications of creating mosquitoes with gene drive. Online focus groups with California residents explored views on mosquito-borne disease risk, current mosquito control methods, and the proposed development and use of different classes of gene drives to control Ae. aegypti. Rather than a dogmatic rejection of genetic engineering or gene drive, many participants expressed pragmatic concerns with cost, control, the ability to narrowly target specific species, and the challenges of mistrust and institutional cooperation. Work like this can inform the alignment of community priorities and the professional priorities of scientists and vector control specialists.

Social support coping styles and psychological distress during the COVID-19 pandemic: The moderating role of sex.

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic led to the onset and exacerbation of mental health problems, such as stress, anxiety, and depression; yet stay-at-home-orders affected individuals' ability to make use of social support as a coping skill in managing distress. We aimed to evaluate how social support (emotional and instrumental) and biological sex were associated with stress, anxiety, and depression early in the COVID-19 pandemic. METHODS: Participants (n = 7256) had an average age of 50.13 years (SD = 16.75) and 51.6% were male. Using a cross-sequential design, seven cohorts of individuals completed baseline (T1) and one-month follow-up (T2) questionnaires online from March to July of 2020. We used a series of hierarchical regressions to identify types of social support (Brief-COPE, T1) associated with stress (Perceived Stress Scale-10, T1 and T2), anxiety and depression (Patient Health Questionnaire-4, T2). RESULTS: Greater emotional support was associated with less perceived stress, anxiety and depression (all ps < 0.001), whereas greater instrumental support predicted increased distress (all ps < 0.036) on all four outcomes. Moderation analyses revealed that greater emotional social support was associated with lower perceived stress at T1 for both women and men, with a stronger association for women relative to men. For women, greater emotional social support predicted lower anxiety. LIMITATIONS: Self-selection may have introduced bias and participant self-report on brief measures may not have fully captured coping and distress. CONCLUSIONS: Interventions enhancing emotional social support strategies, which appear especially important for women, might help manage enduring stressors such as the COVID-19 pandemic.

Codesigning a community-based participatory research project to assess tribal perspectives on privacy and health data sharing: A report from the Strong Heart Study.

Broad health data sharing raises myriad ethical issues related to data protection and privacy. These issues are of particular relevance to Native Americans, who reserve distinct individual and collective rights to control data about their communities. We sought to gather input from tribal community leaders on how best to understand health data privacy and sharing preferences in this population. We conducted a workshop with 14 tribal leaders connected to the Strong Heart Study to codesign a research study to assess preferences concerning health data privacy for biomedical research. Workshop participants provided specific recommendations regarding who should be consulted, what questions should be posed, and what methods should be used, underscoring the importance of relationship-building between researchers and tribal communities. Biomedical researchers and informaticians who collect and analyze health information from Native communities have a unique responsibility to safeguard these data in ways that align to the preferences of specific communities.

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.

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.

Oxitec and MosquitoMate in the United States: lessons for the future of gene drive mosquito control.

In response to growing concerns regarding mosquito-borne diseases, scientists are developing novel systems of vector control. Early examples include Oxitec's OX513A genetically-engineered mosquito and MosquitoMate's Wolbachia-infected mosquito, and systems using 'gene-drive' are in development. Systems based on genetic engineering are controversial and institutions around the world are grappling with the question of who should have a say in how such technologies are field-tested and used. Based on media coverage and public records, we created comparative timelines of the efforts of Oxitec and MosquitoMate to navigate federal and local governance and bring their products to market in the United States. We analyze these timelines with particular attention to the role of public input in technology governance. These cases illustrate how governance of technology in the US is diverse, complex, and opaque. Further, the public response to proposed field trials of the Oxitec product highlights inconsistencies between public expectations for governance and actual practice. As gene-drive mosquito control products develop, both federal and local agencies will find their legitimacy tested without a better procedure for transparently integrating public input.

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.