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INTRODUCTION: The COVID-19 pandemic led to a dramatic increase in telemedicine use for direct patient care. Inequities in device/internet access can limit the extent to which patients can engage with telemedicine care and exacerbate health disparities. In this review, we examined existing literature on interventions designed to improve patient telemedicine access by providing digital devices including tablets, smartphones, and computers and/or internet connectivity. METHODS: In this systematic scoping review, we searched four databases for peer-reviewed studies published 1/1/2000-10/19/2021 that described healthcare interventions that provided patients with devices and/or internet connectivity and reported outcomes related to telemedicine access and/or usage. Data extraction elements included: study population, setting, intervention design, details on device/connectivity provision, and outcomes evaluated. RESULTS: Twelve articles reflecting seven unique interventions met inclusion criteria. Ten articles examined telemedicine utilization (83%) and reported improved patient show rates/utilization. Seven articles examined patient satisfaction with the interventions (58%) and reported positive experiences. Fewer articles examined health outcomes (17%; 2/12) though these also demonstrated positive results. Across included studies, study quality was low. There were no controlled trials, and the most rigorously designed studies (n = 4) involved pre/post-intervention assessments. DISCUSSION: Findings from this review indicate that providing material technology supports to patients can facilitate telemedicine access, is acceptable to patients and clinicians, and can contribute to improved health outcomes. The low number and quality of existing studies limits the strength of this evidence. Future research should explore interventions that can increase equitable access to telemedicine services. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=183442, identifier, PROSPERO: CRD42020183442.

It has been suggested that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with European ancestry. We examined the association of DY with estimated continental/subcontinental genetic ancestry in a racially/ethnically diverse pediatric and prenatal clinical cohort. Cases (N = 845) with suspected genetic disorders underwent ES for diagnosis. Continental/subcontinental genetic ancestry proportions were estimated from the ES data. We compared the distribution of genetic ancestries in positive, negative, and inconclusive cases by Kolmogorov-Smirnov tests and linear associations of ancestry with DY by Cochran-Armitage trend tests. We observed no reduction in overall DY associated with any genetic ancestry (African, Native American, East Asian, European, Middle Eastern, South Asian). However, we observed a relative increase in proportion of autosomal recessive homozygous inheritance versus other inheritance patterns associated with Middle Eastern and South Asian ancestry, due to consanguinity. In this empirical study of ES for undiagnosed pediatric and prenatal genetic conditions, genetic ancestry was not associated with the likelihood of a positive diagnosis, supporting the equitable use of ES in diagnosis of previously undiagnosed but potentially Mendelian disorders across all ancestral populations.

BackgroundFamilies whose child has unexplained intellectual or developmental differences often hope that a genetic diagnosis will lower barriers to community-based therapeutic and support services. However, there is little known about efforts to mobilize genetic information outside the clinic or how socioeconomic disadvantage shapes and constrains outcomes.MethodsWe conducted an ethnographic study with predominantly socioeconomically disadvantaged families enrolled in a multi-year genomics research study, including clinic observations and in-depth interviews in English and Spanish at multiple time points. Coding and thematic development were used to collaboratively interpret fieldnotes and transcripts.ResultsThirty-two families participated. Themes included familial expectations that a genetic diagnosis could be translated into information, understanding, and assistance to improve the quality of a child's day-to-day life. After sequencing, however, genetic information was not readily converted into improved access to services beyond the clinic, with families often struggling to use a genetic diagnosis to advocate for their child.ConclusionFamilies' ability to use a genetic diagnosis as an effective advocacy tool beyond the clinic was limited by the knowledge and resources available to them, and by the eligibility criteria used by therapeutic service providers' - which focused on clinical diagnosis and functional criteria more than etiologic information. All families undertaking genomic testing, particularly those who are disadvantaged, need additional support to understand the limits and potential benefits of genetic information beyond the clinic.

OBJECTIVE: There is increasing evidence supporting the clinical utility of next generation sequencing for identifying fetal genetic disorders. However, there are limited data on the demand for and accessibility of these tests, as well as payer coverage in the prenatal context. We sought to identify clinician perspectives on the utility of prenatal exome sequencing (ES) and on equitable access to genomic technologies for the care of pregnancies complicated by fetal structural anomalies. METHOD: We conducted two focus group discussions and six interviews with a total of 13 clinicians (11 genetic counselors; 2 Maternal Fetal Medicine/Geneticists) from U.S. academic centers and community clinics. RESULTS: Participants strongly supported ES for prenatal diagnostic testing in pregnancies with fetal structural anomalies. Participants emphasized the value of prenatal ES as an opportunity for a continuum of care before, during, and after a pregnancy, not solely as informing decisions about abortions. Cost and coverage of the test was the main access barrier, and research was the main pathway to access ES in academic centers. CONCLUSION: Further integrating the perspectives of additional key stakeholders are important for understanding clinical utility, developing policies and practices to address access barriers, and assuring equitable provision of prenatal diagnostic testing.

The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a cohort of predominantly US and URM pediatric and prenatal patients suspected to have a genetic disorder. Eligible pediatric patients had multiple congenital anomalies and/or neurocognitive disabilities and prenatal patients had one or more structural anomalies, disorders of fetal growth, or fetal effusions. URM and US patients were prioritized for enrollment and underwent ES at a single academic center. We identified definitive positive or probable positive results in 201/845 (23.8%) patients, with a significantly higher diagnostic rate in pediatric (26.7%) compared to prenatal patients (19.0%) (P = 0.01). For both pediatric and prenatal patients, the diagnostic yield and frequency of inconclusive findings did not differ significantly between URM and non-URM patients or between patients with US status and those without US status. Our results demonstrate a similar diagnostic yield of ES between prenatal and pediatric URM/US patients and non-URM/US patients for positive and inconclusive results. These data support the use of ES to identify clinically relevant variants in patients from diverse populations.

BackgroundNewer molecular testing platforms are now available for deployment at lower-level community health centers. There are limited data on facility- and health worker-level factors that would promote successful adoption of such platforms for rapid tuberculosis (TB) testing and treatment initiation. Our study aimed to assess readiness to implement onsite molecular testing at community health centers in Uganda, a high TB burden country in sub-Saharan Africa.MethodsTo understand implementation readiness, we conducted a qualitative assessment guided by the Consolidated Framework for Implementation Research (CFIR) at 6 community health centers in central and eastern Uganda between February and April 2018. We conducted 23 in-depth, semi-structured interviews with health workers involved in TB care at each health center to assess TB-related work practices and readiness to adopt onsite molecular testing using the GeneXpert Edge platform. Interviews were transcribed verbatim and coded for thematic analysis.ResultsParticipants (N=23) included 6 nurses/nursing assistants, 6 clinicians, 6 laboratory directors/technicians, 1 medical officer, 2 health center directors, and 2 other health workers involved in TB care. Health workers described general enthusiasm that on-site molecular testing could lead to greater efficiencies in TB diagnosis and treatment, including faster turn- around time for TB test results, lack of need for trained laboratory technicians to interpret results, and reduced need to transport sputum specimens to higher level facilities. However, health workers also expressed concerns about implementation feasibility. These included uncertainty about TB infection risk, safety risks from disposal of hazardous waste, a lack of local capacity to provide timely troubleshooting and maintenance services, and concerns about the security of GeneXpert devices and accessories. Health workers also expressed the need for backup batteries to support testing or charging when wall power is unstable.ConclusionOur study generated a nuanced understanding of modifiable contextual barriers and led to direct revisions of implementation strategies for onsite molecular testing. The findings highlight that novel diagnostics should be implemented along with health system co-interventions that address contextual barriers to their effective uptake. Pre-implementation assessment of stakeholder perspectives, collaborative work processes, and institutional contexts is essential when introducing innovative technology in complex health care settings.

Addressing health disparities has become a central remit for conducting health research. In the following paper, we explore the conceptual and methodological challenges posed by the call to recruit medically underserved populations. This exploration of challenges is undertaken from the perspective of social science researchers embedded in a large within a clinical genomics research study. We suggest that these challenges are found in respect to the development of recruiting strategies, analysis of the data in respect to understanding and interpreting the experiences of being medically underserved, and in comparing the experiences of being medically underserved compared to not being underserved. By way of conclusion, it is argued that there is important role for social scientists with large health research studies which, if achieved successfully, can benefit study teams and society as a whole.

PurposePatients undergoing clinical exome sequencing (ES) are routinely offered the option to receive secondary findings (SF). However, little is known about the views of individuals from underrepresented minority pediatric or prenatal populations regarding SF.MethodsWe explored the preferences for receiving hypothetical categories of SF (H-SF) and reasons for accepting or declining actual SF through surveying (n = 149) and/or interviewing (n = 47) 190 families undergoing pediatric or prenatal ES.ResultsUnderrepresented minorities made up 75% of the probands. In total, 150 families (79%) accepted SF as part of their child/fetus's ES. Most families (63%) wanted all categories of H-SF. Those who declined SF as part of ES were less likely to want H-SF across all categories. Interview findings indicate that some families did not recall their SF decision. Preparing for the future was a major motivator for accepting SF, and concerns about privacy, discrimination, and psychological effect drove decliners.ConclusionA notable subset of families (37%) did not want at least 1 category of H-SF, suggesting more hesitancy about receiving all available results than previously reported. The lack of recollection of SF decisions suggests a need for alternative communication approaches. Results highlight the importance of the inclusion of diverse populations in genomic research.

Background and objectivesSuccessful 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.MethodsWe 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.ResultsFive 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.ConclusionWe 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.

PurposeThere is a critical need for genomic medicine research that reflects and benefits socioeconomically and ancestrally diverse populations. However, disparities in research populations persist, highlighting that traditional study designs and materials may be insufficient or inaccessible to all groups. New approaches can be gained through collaborations with patient/community stakeholders. Although some benefits of stakeholder engagement are recognized, routine incorporation into the design and implementation of genomics research has yet to be realized.MethodsThe National Institutes of Health-funded Clinical Sequencing Evidence-Generating Research (CSER) consortium required stakeholder engagement as a dedicated project component. Each CSER project planned and carried out stakeholder engagement activities with differing goals and expected outcomes. Examples were curated from each project to highlight engagement strategies and outcomes throughout the research lifecycle from development through dissemination.ResultsProjects tailored strategies to individual study needs, logistical constraints, and other challenges. Lessons learned include starting early with engagement efforts across project stakeholder groups and planned flexibility to enable adaptations throughout the project lifecycle.ConclusionEach CSER project used more than 1 approach to engage with relevant stakeholders, resulting in numerous adaptations and tremendous value added throughout the full research lifecycle. Incorporation of community stakeholder insight improves the outcomes and relevance of genomic medicine research.

Workplace violence (WV) is a significant and growing problem for health care workers. Increased recognition of the need for improved protections has led to policy initiatives at the state and federal levels, including national Joint Commission requirements that went into effect January 2022. California's WV prevention legislation was phased in during 2017-2018 and requires hospitals to use a new incident reporting system, the Workplace Violent Incident Reporting System (WVIRS) for Hospitals. We analyzed WVIRS data collected during the first three years of its implementation, July 1, 2017 - June 30, 2020. In addition, we collected qualitative data from six California hospitals/hospital systems during 2019-2020 to better understand reporting practices. Over the three-year period, the 413 hospitals using the WVIRS reported between zero and six incidents per staffed bed. Sixteen hospitals (3.9%) reported two or more incidents per staffed bed while the rest reported fewer than two incidents. Qualitative analysis identified that reporting procedures vary considerably among hospitals. Several organizations rely on workers to complete incident reports electronically while others assign managers or security personnel to data collection. Some hospitals appear to report only those incidents involving physical harm to the worker. Regulatory guidance for reporting practices and hospitals' commitment to thorough data collection may improve consistency. As hospitals throughout the U.S. consider practice changes to comply with new WV standards, those engaged in implementation efforts should look closely at reporting practices. Greater consistency in reporting across facilities can help to build evidence for best practices and lead to safety improvements.

Genomic sequencing has been increasingly utilized for prenatal diagnosis in recent years and this trend is likely to continue. However, decision-making for parents in the prenatal period is particularly fraught, and prenatal sequencing would significantly expand the complexity of managing health risk information, reproductive options, and healthcare access. This qualitative study investigates decision-making processes amongst parents who enrolled or declined to enroll in the prenatal arm of the California-based Program in Prenatal and Pediatric Genome Sequencing (P3EGS), a study in the Clinical Sequencing Evidence-Generating Research (CSER) consortium that offered whole exome sequencing for fetal anomalies with a focus on underrepresented groups in genomic research. Drawing on the views of 18 prenatal families who agreed to be interviewed after enrolling (n = 15) or declining to enroll (n = 3) in P3EGS, we observed that the timing of sequencing, coupled with unique considerations around experiences of time during pregnancy and prenatal testing, intersect with structural supports beyond the clinic to produce preferences for and against prenatal sequencing and to contain the threat of unwelcome, uncertain knowledge. Particularly for those without structural supports, finding out consequential information may be more palatable after the birth, when the first stage of the uncertain future has been revealed. Future research should examine the role of temporality in decision-making around prenatal genomic sequencing across diverse population cohorts, in order to observe more precisely the role that structural barriers play in patient preferences.

Objective: To provide qualitative empirical data on parental expectations of diagnostic prenatal genomic sequencing and the value of the results to families. Methods: We interviewed 15 families-mothers and/or fathers-who had had prenatal genomic sequencing about their expectations and their respective evaluations of the benefits of genomic sequencing. Results: Families' hopes for genetic sequencing clustered around three themes: hoping to identify the cause of the fetal anomaly in a terminated pregnancy; hopes for guidance as to the likely outcome of current pregnancy; and hopes for information to support future family planning. In addition, hopes were discussed in terms of the potential for results to be beneficial in acquiring greater knowledge, while at the same time recognizing that new knowledge may raise more questions. Assessment of the value of sequencing largely mirrored these expectations when positive results seen. Negative results can also be seen as valuable in ruling out a genetic cause and in providing certainty that families had done everything that they could to know about the cause of fetal demise. Conclusion: It would appear that with guidance from genetic counsellors, families were largely able to navigate the many uncertainties of prenatal genomic sequencing and thus see themselves as benefitting from sequencing. However, support structures are essential to guide them through their expectations and interpretations of results to minimize possible harms. Engaging in the process of genomic sequencing was seen as beneficial in of itself to families who would otherwise be left without any options to seek diagnostic answers.

Due to a national shortage of child and adolescent psychiatrists, pediatric primary care providers (PCPs) are often responsible for the screening, evaluation, and treatment of mental health disorders. COVID-19 pandemic stay-at-home orders decreased access to mental health care and increased behavioral and emotional difficulties in children and adolescents. Despite increased demand upon clinicians, little is known about mental health care delivery in the pediatric primary care setting during the pandemic. This focus group study explored the experiences of pediatric PCPs and clinical staff delivering mental health care during the pandemic. Transcripts from nine focus groups with San Francisco Bay Area primary care practices between April and August 2020 were analyzed using a thematic analysis approach. Providers expressed challenges at the patient-, provider-, and system-levels. Many providers reported increased patient mental health symptomatology during the pandemic, which was often intertwined with patients' social determinants of health. Clinicians discussed the burden of the pandemic their own wellness, and how the rapid shift to telehealth primary care and mental health services seemed to hinder the availability and effectiveness of many resources. The findings from this study can inform the creation of new supports for PCPs and clinical staff providing mental health care.

BackgroundEffective strategies are needed to facilitate the prompt diagnosis and treatment of tuberculosis in countries with a high burden of the disease.MethodsWe conducted a cluster-randomized trial in which Ugandan community health centers were assigned to a multicomponent diagnostic strategy (on-site molecular testing for tuberculosis, guided restructuring of clinic workflows, and monthly feedback of quality metrics) or routine care (on-site sputum-smear microscopy and referral-based molecular testing). The primary outcome was the number of adults treated for confirmed tuberculosis within 14 days after presenting to the health center for evaluation during the 16-month intervention period. Secondary outcomes included completion of tuberculosis testing, same-day diagnosis, and same-day treatment. Outcomes were also assessed on the basis of proportions.ResultsA total of 20 health centers underwent randomization, with 10 assigned to each group. Of 10,644 eligible adults (median age, 40 years) whose data were evaluated, 60.1% were women and 43.8% had human immunodeficiency virus infection. The intervention strategy led to a greater number of patients being treated for confirmed tuberculosis within 14 days after presentation (342 patients across 10 intervention health centers vs. 220 across 10 control health centers; adjusted rate ratio, 1.56; 95% confidence interval [CI], 1.21 to 2.01). More patients at intervention centers than at control centers completed tuberculosis testing (adjusted rate ratio, 1.85; 95% CI, 1.21 to 2.82), received a same-day diagnosis (adjusted rate ratio, 1.89; 95% CI, 1.39 to 2.56), and received same-day treatment for confirmed tuberculosis (adjusted rate ratio, 2.38; 95% CI, 1.57 to 3.61). Among 706 patients with confirmed tuberculosis, a higher proportion in the intervention group than in the control group were treated on the same day (adjusted rate ratio, 2.29; 95% CI, 1.23 to 4.25) or within 14 days after presentation (adjusted rate ratio, 1.22; 95% CI, 1.06 to 1.40).ConclusionsA multicomponent diagnostic strategy that included on-site molecular testing plus implementation supports to address barriers to delivery of high-quality tuberculosis evaluation services led to greater numbers of patients being tested, receiving a diagnosis, and being treated for confirmed tuberculosis. (Funded by the National Heart, Lung, and Blood Institute; XPEL-TB ClinicalTrials.gov number, NCT03044158.).

ObjectiveThe aim of the study was to develop standards for tracking patient safety gaps in ambulatory care in safety net health systems.MethodsLeaders from five California safety net health systems were invited to participate in a modified Delphi process sponsored by the Safety Promotion Action Research and Knowledge Network (SPARKNet) and the California Safety Net Institute in 2016. During each of the three Delphi rounds, the feasibility and validity of 13 proposed patient safety measures were discussed and prioritized. Surveys and transcripts from the meetings were analyzed to understand the decision-making process.ResultsThe Delphi process included eight panelists. Consensus was reached to adopt 9 of 13 proposed measures. All 9 measures were unanimously considered valid, but concern was expressed about the feasibility of implementing several of the measures.ConclusionsAlthough safety net health systems face high barriers to standardized measurement, our study demonstrates that consensus can be reached on acceptable and feasible methods for tracking patient safety gaps in safety net health systems. If accompanied by the active participation key stakeholder groups, including patients, clinicians, staff, data system professionals, and health system leaders, the consensus measures reported here represent one step toward improving ambulatory patient safety in safety net health systems.

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.

PurposeGermline testing laboratories have evolved over several decades. We describe laboratory business models and practices and explore their implications on germline testing availability and access.MethodsWe conducted semistructured interviews with key informants using purposive sampling. We interviewed 13 key informants representing 14 laboratories. We used triangulation and iterative data analysis to identify topics concerning laboratory business models and practices.ResultsWe characterized laboratories as full-service (FSL), for-profit germline (PGL), and not-for-profit germline (NGL). Relying on existing payer contracts is a key characteristic of the FSL business models. FSLs focus on high-volume germline tests with evidence of clinical utility that have reimbursable codes. In comparison, a key business model characteristic of PGLs is direct patient billing facilitated by commodity-based pricing made possible by investors and industry partnerships. Client billing is a key business model characteristic of NGLs. Because many NGLs exist within academic settings, they are challenged by their inability to optimize laboratory processes and billing practices.ConclusionContinued availability of, and access to germline testing will depend on the financial success of laboratories; organizational characteristics of laboratories and payers; cultural factors, particularly consumer interest and trust; and societal factors, such as regulation and laws surrounding pricing and reimbursement.

Public randomization ceremonies have been proposed as a strategy to strengthen stakeholder engagement and address concerns and misconceptions associated with trial randomization. However, there are few published examples that describe how to conduct a public randomization ceremony with meaningful stakeholder engagement or how such ceremonies impact stakeholder perceptions about randomization and the randomization process. Cluster randomization for the GeneXpert Performance Evaluation for Linkage to Tuberculosis Care (XPEL-TB) trial was conducted at a public randomization ceremony attended by 70 stakeholders in Kampala, Uganda. Presentations given by the Acting Assistant Commissioner from the Uganda National Tuberculosis and Leprosy Programme and trial investigators emphasized how the trial aimed to further national TB goals, as well as how stakeholders contributed to the intervention design. The purpose and process of randomization were described using simple text and visuals. Randomization was an interactive activity that required participation of stakeholders from each trial site. A survey administered to stakeholders at the end of the ceremony suggested high comprehension of randomization (98%), trust in the randomization process (96%), and satisfaction with randomization outcomes (96%). Public randomization ceremonies should be considered more routinely to engage stakeholders in and address potential concerns about the fairness and impartiality of the randomization process for community-based trials.

IntroductionEnsuring equitable access to health care is a widely agreed-upon goal in medicine, yet access to care is a multidimensional concept that is difficult to measure. Although frameworks exist to evaluate access to care generally, the concept of "access to genomic medicine" is largely unexplored and a clear framework for studying and addressing major dimensions is lacking.MethodsComprised of seven clinical genomic research projects, the Clinical Sequencing Evidence-Generating Research consortium (CSER) presented opportunities to examine access to genomic medicine across diverse contexts. CSER emphasized engaging historically underrepresented and/or underserved populations. We used descriptive analysis of CSER participant survey data and qualitative case studies to explore anticipated and encountered access barriers and interventions to address them.ResultsCSER's enrolled population was largely lower income and racially and ethnically diverse, with many Spanish-preferring individuals. In surveys, less than a fifth (18.7%) of participants reported experiencing barriers to care. However, CSER project case studies revealed a more nuanced picture that highlighted the blurred boundary between access to genomic research and clinical care. Drawing on insights from CSER, we build on an existing framework to characterize the concept and dimensions of access to genomic medicine along with associated measures and improvement strategies.ConclusionsOur findings support adopting a broad conceptualization of access to care encompassing multiple dimensions, using mixed methods to study access issues, and investing in innovative improvement strategies. This conceptualization may inform clinical translation of other cutting-edge technologies and contribute to the promotion of equitable, effective, and efficient access to genomic medicine.

IntroductionImplementation 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.MethodsA 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.ResultsIdentifying 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.ConclusionsIn 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.

BackgroundDelays in diagnosis and treatment of tuberculosis (TB) remain common in high-burden countries. To improve case detection, substantial investments have been made to scale-up Xpert MTB/RIF (Xpert), a cartridge-based nucleic acid amplification test that can detect TB within 2 hours, as a replacement for sputum smear microscopy. However, the optimal strategy for implementation of Xpert testing remains unclear.MethodsThe Xpert Performance Evaluation for Linkage to Tuberculosis Care (XPEL-TB) trial uses an ultra-pragmatic, hybrid type II effectiveness-implementation design to assess the effectiveness and implementation of a streamlined strategy for delivery of Xpert testing in real-world settings. Twenty health centers with TB microscopy units were selected to participate in the trial, with ten health centers randomized to the intervention strategy (onsite molecular testing using GeneXpert Edge, process redesign to facilitate same-day TB diagnosis and treatment, and performance feedback) or routine care (onsite sputum smear microscopy plus referral of sputum samples to Xpert testing sites). The primary outcome is the number of patients with microbiologically confirmed TB who were initiated on treatment within 14 days of presentation to the health center, which reflects successful completion of the TB diagnostic evaluation process. Secondary outcomes include health outcomes (6-month vital status), as well as measures of the reach, adoption, and implementation of the intervention strategy.DiscussionThe design elements and implementation approach for the XPEL-TB trial were intentionally selected to minimize disruptions to routine care procedures, with the goal of limiting their influence on key primary and secondary outcomes. Trial findings may result in increased support and funding for rapid, onsite molecular testing as the standard-of-care for all patients being evaluated for TB.Trial registrationUS National Institutes of Health's ClinicalTrials.gov, NCT03044158. Registered 06 February 2017. Pan African Clinical Trials Registry, PACTR201610001763265. Registered 03 September 2016.

BackgroundThere have been no large-scale studies to date of patients' experiences with electronic consultation (eConsult) between primary and specialty care.ObjectiveCompare experiences with eConsult and referral for in-person specialist consultation.DesignOnline survey 2-6 weeks following eConsult or referral at 9 US academic medical centers.ParticipantsAdult patients with no more than one eConsult or referral order from a primary care provider (PCP) in the prior month. Over 9 months, 29,291 email invitations were sent (88% referral; 12% eConsult).Main measuresTrust in and satisfaction with PCP; consult type awareness; agreement with decision to seek specialist input; timeliness of care; mode of PCP-patient eConsult communication; satisfaction with specialist's recommendations; future preference for eConsult or referral.Key resultsA 27.6% response rate yielded 8087 respondents (88.4% referral; 11.6% eConsult). Many did not know that their PCP had placed a referral (32.8% unaware) or eConsult (52.9%), and eConsult awareness was significantly higher among patients reporting better health (OR 1.62, 95% CI 1.18-2.23). Most (81.4% eConsult; 82.0% referral) were satisfied with the specialist's recommendations. Those who had a good primary care experience were more likely to be satisfied (eConsult: OR 10.63, 95% CI 2.95-38.32; referral: OR 2.87, 95% CI 1.86-4.44). For a similar problem in the future, 78% of eConsult and 32% percent of referral patients preferred eConsult.ConclusionsThis multisite study demonstrates that many patients find virtual consultation to be an acceptable strategy for the management of their medical condition and that trust and confidence in one's PCP are crucial ingredients for a satisfying eConsult experience. The lack of awareness of eConsult among many patients who were beneficiaries of the service warrants an increased effort to include patients in eConsult decision-making and communication. Further research is needed to assess eConsult acceptability and satisfaction in more diverse patient populations.

PurposeElectronic consultation (eConsult), involving asynchronous primary care clinician-to-specialist consultation, is being adopted at a growing number of health systems. Most evaluations of eConsult programs have assessed clinical and financial impacts and clinician acceptability. Less attention has been focused on patients' opinions. We set out to understand patient perspectives and preferences for hypothetical eConsult use at 5 US academic medical centers in the process of adopting an eConsult model.MethodsWe invited adult primary care patients to participate in focus groups. Participants were introduced to the eConsult model, considered its potential benefits and drawbacks, judged the acceptability of a hypothetical copay, and expressed their preferences for future involvement in eConsult decision making and communication. Thematic analysis was used for data interpretation.ResultsOne focus group was conducted at each of the 5 sites with a total of 52 participants. Focus groups responded positively to the idea of eConsult, with quicker access to specialty care and convenience identified as key benefits. Approval was particularly high among those with a trusted primary care clinician. Preference for involvement in eConsult decision making and communication varied and enthusiasm about eConsult waned when a hypothetical copay was introduced. Concerns included potential misuse of eConsult and exclusion of the patient's illness narrative in the eConsult exchange.ConclusionsPrimary care patients expressed strong support for eConsult, particularly when used by a trusted primary care clinician, in addition to voicing several concerns. Patient involvement in eConsult outreach and education efforts could help to enhance the model's effectiveness and acceptability.

Purpose: We evaluated outcomes of trainees who have completed the Certificate program in Implementation Science at the University of California San Francisco. Methods: All students who completed the in-person Certificate Program between 2008 and 2015 (n = 71), or the online Certificate Program between 2016 and 2017 (n = 13), were eligible for our study. We assessed the potential impact of the Certificate Program on the professional development of trainees, through participant surveys on their self-reported level of comfort with pre-defined competencies, and on academic productivity. Results: Of eligible trainees, 54 in-person (77%) and 13 online (100%) Certificate Program participants completed surveys. In-person trainees reported a total of 147 implementation science-related publications in peer-reviewed journals (median 3 publications/trainee, IQR 1-15). Thirty-four trainees (63%) reported being a Principal Investigator (PI) of 64 funded implementation science-related grants (median 2 grants/trainee, IQR 1-4). Fifteen percent (15%, n = 8) of participants reported receiving an NIH grant on which they were the PI, including R01 or P01 level funding (n = 4, 7%) and K awards (n = 3, 6%). Both in-person and online trainees reported median high to moderate confidence for all 12 competencies assessed. Confidence waned in skills aligning with later stages of implementation research for all trainees. Conclusion: The moderate to high confidence in all competencies assessed and reported high level of academic productivity support the benefits of intensive, graduate-level training focused on applied methods to support career development of implementation scientists.

BackgroundElectronic consultation (eConsult), which involves primary care provider (PCP)-to-specialist asynchronous consultation, is increasingly used in health care systems to streamline care and to improve patient access. The Association of American Medical Colleges (AAMC) formed a collaborative to support the implementation of an electronic medical record (EMR)-based, opt-in eConsult program across multiple academic medical centers (AMCs). In this model, PCPs can elect to send either an eConsult or a traditional referral.ObjectiveWe sought to understand the PCP experience with eConsult to identify facilitators of and barriers to the successful adoption of the model.Design and participantsWe conducted 35 semi-structured interviews and 6 focus groups with a range of primary care providers at 7 AMCs participating in the AAMC collaborative.ApproachInterviews were recorded and transcribed or detailed field notes were taken. We used the constant comparative method to identify recurring themes within and across sites, and resolve interpretive discrepancies.Key resultsWe identified three major themes related to the eConsult program: (1) eConsult increases the comprehensiveness of primary care and fills PCPs' knowledge gaps through case-based learning. (2) Factors that influence PCPs to order an eConsult rather than a traditional referral include patient preference, case complexity, and need for expert guidance. (3) Implementation challenges included increasing PCPs' awareness of the program, addressing PCPs' concerns about increased workload, recruiting engaged specialist consultants, and ensuring high quality eConsult responses. Implementation success relied on PCP ownership of the consultation process, mitigating unintended consequences, ongoing education about the program, and mechanisms for providing feedback to clinicians.ConclusionsOur findings demonstrate that an opt-in eConsult program at AMCs has the potential to increase PCP knowledge and enhance the comprehensiveness of primary care. For these benefits to be realized, program implementation requires sustained efforts to overcome barriers to use and establish norms guiding eConsult communication.

Little is known about dissemination and implementation in safety net settings. The authors conducted a literature review of innovation/implementation studies in US safety net health care settings between 2008 and 2017. Each article was coded for (1) intervention characteristics, (2) implementation stage, (3) internal versus external ownership, and (4) prespecified implementation outcomes (eg, acceptability and fidelity). Twenty studies were identified; the majority were implemented within community clinics or integrated safety net systems (15 articles), most involved care process improvements (13 articles), and most were internally developed (13 articles). The internally developed innovations reported fewer barriers to acceptability among staff/providers, higher leadership involvement and organizational alignment, greater amounts of customization to the local setting, and better sustainment. Future work should harness the high levels of alignment and acceptability in implementation research within safety net settings, with an eye toward maintaining fidelity to facilitate dissemination across sites.

Nonadherence to medication regimens is common, with approximately 50% of patients not taking their medications as prescribed. The Universal Medication Schedule (UMS) is a set of standardized, evidence-based, and patient-centered instructions for pill-form medications that has demonstrated improvements in adherence by promoting patient comprehension. An urban, publicly funded, integrated health care system attempted to adopt UMS labeling but had limited success at its largest pilot site, which was a safety-net health care system's outpatient pharmacy. To assess barriers to implementation, we engaged pharmacists at this site in group interviews. We thematically analyzed transcripts by integrating sociological work on standardization with grounded theory methodologies. In addition to lacking technological infrastructure, tensions among efficiency, efficacy, and effectiveness, and tension between individual/biomedical versus population health perspectives emerged as barriers to implementation. Additionally, we discovered that hierarchies of professional power impeded uptake. For successful implementation of evidence-based practices for vulnerable populations in resource-poor settings, efforts must anticipate and reconcile the tensions among conflicting demands, professional hierarchies, and divergent orientations to patient care. [HLRP: Health Literacy Research and Practice. 2018;2(3):e128-e131.].

BackgroundThe World Health Organization recommends routine household tuberculosis contact investigation in high-burden countries but adoption has been limited. We sought to identify barriers to and facilitators of TB contact investigation during its introduction in Kampala, Uganda.MethodsWe collected cross-sectional qualitative data through focus group discussions and interviews with stakeholders, addressing three core activities of contact investigation: arranging household screening visits through index TB patients, visiting households to screen contacts and refer them to clinics, and evaluating at-risk contacts coming to clinics. We analyzed the data using a validated theory of behavior change, the Capability, Opportunity, and Motivation determine Behavior (COM-B) model, and sought to identify targeted interventions using the related Behavior Change Wheel implementation framework.ResultsWe led seven focus-group discussions with 61 health-care workers, two with 21 lay health workers (LHWs), and one with four household contacts of newly diagnosed TB patients. We, in addition, performed 32 interviews with household contacts from 14 households of newly diagnosed TB patients. Commonly noted barriers included stigma, limited knowledge about TB among contacts, insufficient time and space in clinics for counselling, mistrust of health-center staff among index patients and contacts, and high travel costs for LHWs and contacts. The most important facilitators identified were the personalized and enabling services provided by LHWs. We identified education, persuasion, enablement, modeling of health-positive behaviors, incentivization, and restructuring of the service environment as relevant intervention functions with potential to alleviate barriers to and enhance facilitators of TB contact investigation.ConclusionsThe use of a behavioral theory and a validated implementation framework provided a comprehensive approach for systematically identifying barriers to and facilitators of TB contact investigation. The behavioral determinants identified here may be useful in tailoring interventions to improve implementation of contact investigation in Kampala and other similar urban settings.

ObjectiveUS health care institutions are implementing secure websites (patient portals) to achieve federal Meaningful Use (MU) certification. We sought to understand efforts to implement portals in "safety net" health care systems that provide services for low-income populations.Materials and methodsOur rapid ethnography involved visits at 4 California safety net health systems and in-depth interviews at a fifth. Visits included interviews with clinicians and executives ( n  = 12), informal focus groups with front-line staff ( n  = 35), observations of patient portal sign-up procedures and clinic work, review of marketing materials and portal use data, and a brief survey ( n  = 45).ResultsOur findings demonstrate that the health systems devoted considerable effort to enlisting staff support for portal adoption and integrating portal-related work into clinic routines. Although all health systems had achieved, or were close to achieving, MU benchmarks, patients faced numerous barriers to portal use and our participants were uncertain how to achieve and sustain "meaningful use" as defined by and for their patients.DiscussionHealth systems' efforts to achieve MU certification united clinic staff under a shared ethos of improved quality of care. However, MU's assumptions about patients' demand for electronic access to health information and ability to make use of it directed clinics' attention to enrollment and message routing rather than to the relevance and usability of a tool that is minimally adaptable to the safety net context.ConclusionWe found a mismatch between MU-based metrics of patient engagement and the priorities and needs of safety net patient populations.

Biomedical research is increasingly informed by expectations of "translation," which call for the production of scientific knowledge that can be used to create services and products that improve health outcomes. In this paper, we ask how translation, in particular the idea of social responsibility, is understood and enacted in the post-genomic life sciences. Drawing on theories examining what constitutes "good science," and interviews with 35 investigators who study the role of gene-environment interactions in the etiology of cancer, diabetes, and cardiovascular disease, we describe the dynamic and unsettled ethics of translational science through which the expected social value of scientific knowledge about complex disease causation is negotiated. To describe how this ethics is formed, we first discuss the politics of knowledge production in interdisciplinary research collectives. Researchers described a commitment to working across disciplines to examine a wide range of possible causes of disease, but they also pointed to persistent disciplinary and ontological divisions that rest on the dominance of molecular conceptions of disease risk. The privileging of molecular-level causation shapes and constrains the kinds of knowledge that can be created about gene-environment interactions. We then turn to scientists' ideas about how this knowledge should be used, including personalized prevention strategies, targeted therapeutics, and public policy interventions. Consensus about the relative value of these anticipated translations was elusive, and many scientists agreed that gene-environment interaction research is part of a shift in biomedical research away from considering important social, economic, political and historical causes of disease and disease disparities. We conclude by urging more explicit engagement with questions about the ethics of translational science in the post-genomic life sciences. This would include a consideration of who will benefit from emerging scientific knowledge, how benefits will accrue, and the ways in which normative assumptions about the public good come to be embedded in scientific objects and procedures.

ProblemSystems-based practice focuses on the organization, financing, and delivery of medical services. The American Association of Medical Colleges has recommended that systems-based practice be incorporated into medical schools' curricula. However, experiential learning in systems-based practice, including practical strategies to improve the quality and efficiency of clinical care, is often absent from or inconsistently included in medical education.InterventionA multidisciplinary clinician and nonclinician faculty team partnered with a cardiology outpatient clinic to design a 9-month clerkship for 1st-year medical students focused on systems-based practice, delivery of clinical care, and strategies to improve the quality and efficiency of clinical operations. The clerkship was called the Action Research Program. In 2013-2014, 8 trainees participated in educational seminars, research activities, and 9-week clinic rotations. A qualitative process and outcome evaluation drew on interviews with students, clinic staff, and supervising physicians, as well as students' detailed field notes.ContextThe Action Research Program was developed and implemented at the University of California, San Francisco, an academic medical center in the United States. All educational activities took place at the university's medical school and at the medical center's cardiology outpatient clinic.OutcomeStudents reported and demonstrated increased understanding of how care delivery systems work, improved clinical skills, growing confidence in interactions with patients, and appreciation for patients' experiences. Clinicians reported increased efficiency at the clinic level and improved performance and job satisfaction among medical assistants as a result of their unprecedented mentoring role with students. Some clinicians felt burdened when students shadowed them and asked questions during interactions with patients. Most student-led improvement projects were not fully implemented.Lessons learnedThe Action Research Program is a small pilot project that demonstrates an innovative pairing of experiential and didactic training in systems-based practice. Lessons learned include the need for dedicated time and faculty support for students' improvement projects, which were the least successful aspect of the program. We recommend that future projects aiming to combine clinical training and quality improvement projects designate distinct blocks of time for trainees to pursue each of these activities independently. In 2014-2015, the University of California, San Francisco School of Medicine incorporated key features of the Action Research Program into the standard curriculum, with plans to build upon this foundation in future curricular innovations.

Despite a proclaimed shift from 'nature versus nurture' to 'genes and environment' paradigms within biomedical and genomic science, capturing the environment and identifying gene-environment interactions (GEIs) has remained a challenge. What does 'the environment' mean in the post-genomic age? In this paper, we present qualitative data from a study of 33 principal investigators funded by the U.S. National Institutes of Health to conduct etiological research on three complex diseases (cancer, cardiovascular disease and diabetes). We examine their research practices and perspectives on the environment through the concept of molecularization: the social processes and transformations through which phenomena (diseases, identities, pollution, food, racial/ethnic classifications) are re-defined in terms of their molecular components and described in the language of molecular biology. We show how GEI researchers' expansive conceptualizations of the environment ultimately yield to the imperative to molecularize and personalize the environment. They seek to 'go into the body' and re-work the boundaries between bodies and environments. In the process, they create epistemic hinges to facilitate a turn from efforts to understand social and environmental exposures outside the body, to quantifying their effects inside the body. GEI researchers respond to these emergent imperatives with a mixture of excitement, ambivalence and frustration. We reflect on how GEI researchers struggle to make meaning of molecules in their work, and how they grapple with molecularization as a methodological and rhetorical imperative as well as a process transforming biomedical research practices.

Scientists now agree that common diseases arise through interactions of genetic and environmental factors, but there is less agreement about how scientific research should account for these interactions. This paper examines the politics of quantification in gene-environment interaction (GEI) research. Drawing on interviews and observations with GEI researchers who study common, complex diseases, we describe quantification as an unfolding moral economy of science, in which researchers collectively enact competing ''virtues.'' Dominant virtues include molecular precision, in which behavioral and social risk factors are moved into the body, and ''harmonization,'' in which scientists create large data sets and common interests in multisited consortia. We describe the negotiations and trade-offs scientists enact in order to produce credible knowledge and the forms of (self-)discipline that shape researchers, their practices, and objects of study. We describe how prevailing techniques of quantification are premised on the shrinking of the environment in the interest of producing harmonized data and harmonious scientists, leading some scientists to argue that social, economic, and political influences on disease patterns are sidelined in postgenomic research. We consider how a variety of GEI researchers navigate quantification's productive and limiting effects on the science of etiological complexity.

Scientists now agree that common diseases arise through interactions of genetic and environmental factors, but there is less agreement about how scientific research should account for these interactions. This paper examines the politics of quantification in gene-environment interaction (GEI) research. Drawing on interviews and observations with GEI researchers who study common, complex diseases, we describe quantification as an unfolding moral economy of science, in which researchers collectively enact competing ''virtues.'' Dominant virtues include molecular precision, in which behavioral and social risk factors are moved into the body, and ''harmonization,'' in which scientists create large data sets and common interests in multisited consortia. We describe the negotiations and trade-offs scientists enact in order to produce credible knowledge and the forms of (self-)discipline that shape researchers, their practices, and objects of study. We describe how prevailing techniques of quantification are premised on the shrinking of the environment in the interest of producing harmonized data and harmonious scientists, leading some scientists to argue that social, economic, and political influences on disease patterns are sidelined in postgenomic research. We consider how a variety of GEI researchers navigate quantification's productive and limiting effects on the science of etiological complexity.

BackgroundText messaging is an affordable, ubiquitous, and expanding mobile communication technology. However, safety net health systems in the United States that provide more care to uninsured and low-income patients may face additional financial and infrastructural challenges in utilizing this technology. Formative evaluations of texting implementation experiences are limited. We interviewed safety net health systems piloting texting initiatives to study facilitators and barriers to real-world implementation.MethodsWe conducted telephone interviews with various stakeholders who volunteered from each of the eight California-based safety net systems that received external funding to pilot a texting-based program of their choosing to serve a primary care need. We developed a semi-structured interview guide based partly on the Consolidated Framework for Implementation Research (CFIR), which encompasses several domains: the intervention, individuals involved, contextual factors, and implementation process. We inductively and deductively (using CFIR) coded transcripts, and categorized themes into facilitators and barriers.ResultsWe performed eight interviews (one interview per pilot site). Five sites had no prior texting experience. Sites applied texting for programs related to medication adherence and monitoring, appointment reminders, care coordination, and health education and promotion. No site texted patient-identifying health information, and most sites manually obtained informed consent from each participating patient. Facilitators of implementation included perceived enthusiasm from patients, staff and management belief that texting is patient-centered, and the early identification of potential barriers through peer collaboration among grantees. Navigating government regulations that protect patient privacy and guide the handling of protected health information emerged as a crucial barrier. A related technical challenge in five sites was the labor-intensive tracking and documenting of texting communications due to an inability to integrate texting platforms with electronic health records.ConclusionsDespite enthusiasm for the texting programs from the involved individuals and organizations, inadequate data management capabilities and unclear privacy and security regulations for mobile health technology slowed the initial implementation and limited the clinical use of texting in the safety net and scope of pilots. Future implementation work and research should investigate how different texting platform and intervention designs affect efficacy, as well as explore issues that may affect sustainability and the scalability.

ObjectivesPreventing Loss of Independence through Exercise (PLIÉ) is a novel, integrative exercise program for individuals with dementia that combines elements of different conventional and complementary exercise modalities (e.g. tai-chi, yoga, Feldenkrais, and dance movement therapy) and focuses on training procedural memory for basic functional movements (e.g., sit-to-stand) while increasing mindful body awareness and facilitating social connection. This study presents analyses of qualitative data collected during a 36-week cross-over pilot clinical trial in 11 individuals.MethodsQualitative data included exercise instructors' written notes, which were prepared after each class and also following biweekly telephone calls with caregivers and monthly home visits; three video-recorded classes; and written summaries prepared by research assistants following pre- and post-intervention quantitative assessments. Data were extracted for each study participant and placed onto a timeline for month of observation. Data were coded and analyzed to identify themes that were confirmed and refined through an iterative, collaborative process by the entire team including a qualitative researcher (SA) and the exercise instructors.ResultsThree overarching themes emerged: (1) Functional changes included increasing body awareness, movement memory and functional skill. (2) Emotional changes included greater acceptance of resting, sharing of personal stories and feelings, and positive attitude toward exercise. (3) Social changes included more coherent social interactions and making friends.ConclusionsThese qualitative results suggest that the PLIÉ program may be associated with beneficial functional, emotional, and social changes for individuals with mild to moderate dementia. Further study of the PLIÉ program in individuals with dementia is warranted.

This article examines how race and ancestry are taken up in gene-environment interaction (GEI) research on complex diseases such as heart disease, diabetes, and cancer. Using 54 in-depth interviews of 33 scientists and over 200 hours of observation at scientific conferences, we explore how GEI researchers use and interpret race, ethnicity, and ancestry in their work. We find that the use of self-identified race and ethnicity (SIRE) exists alongside ancestry informative markers (AIMs) to ascertain genetic ancestry. Our participants assess the utility of these two techniques in relative terms, downplaying the accuracy and value of SIRE compared to the precision and necessity of AIMs. In doing so, we argue that post-genomic scientists seeking to understand the interactions of genetic and environmental disease determinants actually undermine their ability to do so by valorizing precise characterizations of individuals' genetic ancestry over measurement of the social processes and relations that differentiate social groups.