BACKGROUND:Overdose deaths have continued to rise in the US despite heightened public attention and resources. Drug checking shows promise for integration into existing services for people who use drugs (PWUD) across North America. Amidst the backdrop of rising overdose deaths and emerging funds for harm reduction initiatives, this manuscript explores the landscape of drug checking services in North America and perspectives on improved integration with a diverse set of PWUD based in San Francisco and North American drug checking experts. METHODS:Two separate samples of drug checking stakeholders, 'providers' and 'clients' were recruited. Providers participated in in-depth semi-structured qualitative interviews over Zoom on their experiences advocating for and operating drug checking services in the US and Canada. Clients were people who used drugs and lived in or commuted to the San Francisco Bay Area and participated in semi-structured interviews in November 2022. Interviews were transcribed fully and analyzed using thematic analysis methods. RESULTS:Providers and clients identified ongoing instability in the North American drug supply that is exacerbating overdose risk while also identifying groups that would benefit from greater access to drug checking services. Both groups believed the paradoxical impacts of the fentanyl crisis at the core of drug checking services created barriers to the implementation and expansion of these services, hurting PWUD and their providers. Additionally, clients and providers reflected on the social and policy challenges to expansion and improvement of drug checking in their communities. CONCLUSION:Drug checking remains underleveraged, particularly with respect to the most vulnerable PWUD. Clients and providers contended that these services must become more responsive to an ever changing and dangerous drug supply in North America.

ABSTRACT: Objective: To evaluate how community-based experts respond to families seeking therapeutic and educational support services after pediatric genomic sequencing for rare conditions. Methods: We interviewed 15 experts in the provision of community-based services for children with intellectual differences, developmental differences, or both, as part of a large study examining the utility of exome sequencing. Results: Interviewees highlighted the complexity of the overall referral and assessment system for therapeutic or educational needs, that genetic diagnoses are secondary to behavioral observations in respect to eligibility for the provision of services, and that social capital drives service acquisition. Although emphasizing that genetic results do not currently provide sufficient information for determining service eligibility, interviewees also highlighted their hopes that genetics would be increasingly relevant in the future. Conclusion: Genomic results do not usually provide information that directly impacts service provision. However, a positive genomic test result can strengthen evidence for behavioral diagnoses and the future trajectory of a child's condition and support needs. Interviewees' comments suggest a need to combine emerging genetic knowledge with existing forms of therapeutic and educational needs assessment, and for additional supports for families struggling to navigate social and therapeutic services.

Purpose: We aimed to adapt and validate an existing patient-reported outcome measure, the personal-utility (PrU) scale, for use in the pediatric genomic context.Methods: We adapted the adult version of the PrU and obtained feedback from 6 parents whose child had undergone sequencing. The resulting measure, the Parent PrU, was administered to parents of children in 4 pediatric cohorts of the Clinical Sequencing Evidence-Generating Research consortium after they received their children's genomic results. We investigated the measure's structural validity and internal consistency.Results: We conducted a principal-axis factor analysis with oblimin rotation on data from 755 participants to determine structural validity. These analyses yielded a 3-factor solution, accounting for 76% of the variance in the 16 items. We used Cronbach's alpha to assess the internal consistency of each factor: (1) child benefits (alpha = .95), (2) affective parent benefits (alpha = .90), and (3) parent control (alpha = .94). Conclusion: Our evidence suggests that the Parent PrU scale has potential as a measure for assessing parent-reported personal utility of their children's genomic results. Additional research is needed to further validate the Parent PrU scale, including by comparing its findings with utility assessments reported by clinicians and children themselves.(c) 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

Purpose: Sharing aggregate results with research participants is a widely agreed-upon ethical obligation; yet, there is little research on communicating study results to diverse populations enrolled in genomics research. This article describes the cocreation of a visual narrative to explain research findings to families enrolled in a clinical genomics research study. Methods: The design process involved researchers, clinicians, study participants, a physician illustrator, and a health communications expert. Drawing on themes identified in interviews with participating families, the team developed a story and comic about a fictional family participating in genomic research in the hopes of finding an explanation for their child’s condition. Results: Design adjustments to improve the clarity and relatability of the story and accompanying images were prompted by feedback from study participants, who showed a high degree of interest in and support for the project. Spanish and English versions of the final comic book were distributed to study participants, and the feedback received was positive. Conclusion: Our project highlights the feasibility of using visual storytelling to convey genomic research findings to socioeconomically diverse participants. A participatory design process enhances the relevance and relatability of results sharing materials and demonstrates respect for those who contribute to clinical genomics research.

BACKGROUND:Mortality related to opioid overdose in the U.S. has risen sharply in the past decade. In California, opioid overdose death rates more than tripled from 2018 to 2021, and deaths from synthetic opioids such as fentanyl increased more than seven times in those three years alone. Heightened attention to this crisis has attracted funding and programming opportunities for prevention and harm reduction interventions. Drug checking services offer people who use drugs the opportunity to test the chemical content of their own supply, but are not widely used in North America. We report on qualitative data from providers and clients of harm reduction and drug checking services, to explore how these services are used, experienced, and considered. METHODS:We conducted in-depth semi-structured key informant interviews across two samples of drug checking stakeholders: "clients" (individuals who use drugs and receive harm reduction services) and "providers" (subject matter experts and those providing clinical and harm reduction services to people who use drugs). Provider interviews were conducted via Zoom from June-November, 2022. Client interviews were conducted in person in San Francisco over a one-week period in November 2022. Data were analyzed following the tenets of thematic analysis. RESULTS:We found that the value of drug checking includes but extends well beyond overdose prevention. Participants discussed ways that drug checking can fill a regulatory vacuum, serve as a tool of informal market regulation at the community level, and empower public health surveillance systems and clinical response. We present our findings within three key themes: (1) the role of drug checking in overdose prevention; (2) benefits to the overall agency, health, and wellbeing of people who use drugs; and (3) impacts of drug checking services at the community and systems levels. CONCLUSION:This study contributes to growing evidence of the effectiveness of drug checking services in mitigating risks associated with substance use, including overdose, through enabling people who use and sell drugs to test their own supply. It further contributes to discussions around the utility of drug checking and harm reduction, in order to inform legislation and funding allocation.

The central tenet of syndemics theory is that disease interactions are driven by social factors, and that these factors have to be understood in order to reduce the health burdens of local populations. Without an understanding of the theory and how it is being put into practice, there is a strong possibility of losing the potential for syndemic theory to positively impact change at community and individual level. Following an initial database search that produced 921 articles, we developed a multi-stage scoping review process identifying invention studies that employ syndemic theory. Inclusion was defined as the presence of healthcare interventions examining multiple social-biological outcomes, refering to a specific (local) at risk population, developing or attempting to develop interventions impacting upon multiple health and/or social targets, and explicit employment of syndemic theory in developing the intervention. A total of 45 articles contained a substantial engagement with syndemic theory and an original healthcare intervention. However, only eleven studies out of all 921 articles met the inclusion criteria. It is strongly suggested that when employing syndemic theory researchers focus close attention to demonstrating disease interactions, providing evidence of the social drivers of these disease interactions, and constructing interventions grounded in these analytical findings. We conclude that although frequently referred to, syndemic theory is rarely employed in its entirety and recommend that interventions be developed using a more thorough grounding in this important and powerful theory.

Measuring health-related quality of life (HRQoL) of children with suspected genetic conditions is important for understanding the effect of interventions such as genomic sequencing (GS). The Pediatric Quality of Life Inventory (PedsQL) is a widely used generic measure of HRQoL in pediatric patients, but its psychometric properties have not yet been evaluated in children undergoing diagnostic GS. In this cross-sectional study, we surveyed caregivers at the time of their child’s enrollment into GS research studies as part of the Clinical Sequencing Evidence Generating Research (CSER) consortium. To evaluate structural validity of the PedsQL 4.0 Generic Core Scales and PedsQL Infant Scales parent proxy-report versions, we performed a confirmatory factor analysis of the hypothesized factor structure. To evaluate convergent validity, we examined correlations between caregivers’ reports of their child’s health, assessed using the EQ VAS, and PedsQL scores by child age. We conducted linear regression analyses to examine whether age moderated the association between caregiver-reported child health and PedsQL scores. We assessed reliability using Cronbach’s alpha. We analyzed data for 766 patients across all PedsQL age group versions (1–12 months through 13–18 years). Model fit failed to meet criteria for good fit, even after modification. Neither age group (categorical) nor age (continuous) significantly moderated associations between PedsQL scores and caregiver-reported child health. Cronbach’s alphas indicated satisfactory internal consistency for most PedsQL scales. The PedsQL Generic Core Scales and Infant Scales may be appropriate to measure HRQoL in pediatric patients with suspected genetic conditions across a wide age range. While we found evidence of acceptable internal consistency and preliminary convergent validity in this sample, there were some potential problems with structural validity and reliability that require further attention.

Background: There has been substantial controversy in the neuroethics literature regarding the extent to which deep brain stimulation (DBS) impacts dimensions of personality, mood, and behavior.Objective/Hypothesis: Despite extensive debate in the theoretical literature, there remains a paucity of empirical data available to support or refute claims related to the psychosocial changes following DBS. Methods: A mixed-methods approach was used to examine the perspectives of patients who underwent DBS regarding changes to their personality, authenticity, autonomy, risk-taking, and overall quality of life. Results: Patients (n = 21) who were enrolled in adaptive DBS trials for Parkinson's disease, essential tremor, obsessive-compulsive disorder, Tourette's syndrome, or dystonia participated. Qualitative data revealed that participants, in general, reported positive experiences with alterations in what was described as ‘personality, mood, and behavior changes.’ The majority of participants reported increases in quality of life. No participants reported ‘regretting the decision to undergo DBS.’ Conclusion(s): The findings from this patient sample do not support the narrative that DBS results in substantial adverse changes to dimensions of personality, mood, and behavior. Changes reported as “negative” or “undesired” were few in number, and transient in nature.

The year 2021 was the most deadly year for overdose deaths in the USA and Canada. The stress and social isolation stemming from the COVID-19 pandemic coupled with a flood of fentanyl into local drug markets created conditions in which people who use drugs were more susceptible to accidental overdose. Within territorial, state, and local policy communities, there have been longstanding efforts to reduce morbidity and mortality within this population; however, the current overdose crisis clearly indicates an urgent need for additional, easily accessible, and innovative services. Street-based drug testing programs allow individuals to learn the composition of their substances prior to use, averting unintended overdoses while also creating low threshold opportunities for individuals to connect to other harm reduction services, including substance use treatment programs. We sought to capture perspectives from service providers to document best practices around fielding community-based drug testing programs, including optimizing their position within a constellation of other harm reduction services to best serve local communities. We conducted 11 in-depth interviews from June to November 2022 via Zoom with harm reduction service providers to explore barriers and facilitators around the implementation of drug checking programs, the potential for integration with other health promotion services, and best practices for sustaining these programs, taking the local community and policy landscape into account. Interviews lasted 45–60 min and were recorded and transcribed. Thematic analysis was used to reduce the data, and transcripts were discussed by a team of trained analysts. Several key themes emerged from our interviews: (1) the instability of drug markets amid an inconsistent and dangerous drug supply; (2) implementing drug checking services in dynamic environments in response to the rapidly changing needs of local communities; (3) training and ongoing capacity building needed to create sustainable programs; and (4) the potential for integrating drug checking programs into other services. There are opportunities for this service to make a difference in overdose deaths as the contours of the drug market itself have changed over time, but a number of challenges remain to implement them effectively and sustain the service over time. Drug checking itself represents a paradox within the larger policy context, putting the sustainability of these programs at risk and challenging the potential to scale these programs as the overdose epidemic worsens.

The reanalysis of genomic sequencing results has the potential to provide results that are of considerable medical and personal importance to recipients. Employing interviews with forty-seven predominantly medically underserved families and ethnographic observations we argue that there is pressing need to standardize the approach taken to reanalysis. Our findings highlight that study participants were unclear as to the likelihood of reanalysis happening, the process of initiating reanalysis, and whether they would receive revised results. Their reflections mirror the lack a specific focus upon reanalysis within consent and results sessions as observed in clinical settings. Mechanisms need to be put into place that standardize the approach to reanalysis in research and in clinical contexts. This would enable clinicians and genetic counsellors to communicate clearly with research participants with respect to potential for reanalysis of results and the process of reanalysis. We argue that that the role of reanalysis is too important to be referred to in an ad-hoc manner. Furthermore, the ad-hoc nature of the current process may increase health inequities given the likelihood that only those families who have the means to press for reanalysis are likely to receive it.

BACKGROUND:An intervention that involved simultaneously implementing clinical pathways for multiple conditions was tested at a tertiary children's hospital and it improved care quality. We are conducting a randomized trial to evaluate this multicondition pathway intervention in community hospitals. Our objectives in this qualitative study were to prospectively (1) identify implementation barriers and (2) map barriers to facilitators using an established implementation science framework. METHODS:We recruited participants via site leaders from hospitals enrolled in the trial. We designed an interview guide using the Consolidated Framework for Implementation Research and conducted individual interviews. Analysis was done using constant comparative methods. Anticipated barriers were mapped to facilitators using the Capability, Opportunity, Motivation, Behavior Framework. RESULTS:Participants from 12 hospitals across the United States were interviewed (n = 21). Major themes regarding the multicondition pathway intervention included clinician perceptions, potential benefits, anticipated barriers/challenges, potential facilitators, and necessary resources. We mapped barriers to additional facilitators using the Capability, Opportunity, Motivation, Behavior framework. To address limited time/bandwidth of clinicians, we will provide Maintenance of Certification credits. To address new staff and trainee turnover, we will provide easily accessible educational videos/resources. To address difficulties in changing practice across other hospital units, we will encourage emergency department engagement. To address parental concerns with deimplementation, we will provide guidance on parent counseling. CONCLUSIONS:We identified several potential barriers and facilitators for implementation of a multicondition clinical pathway intervention in community hospitals. We also illustrate a prospective process for identifying implementation facilitators.

BACKGROUND:Families 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.METHODS:We 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.RESULTS:Thirty-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.CONCLUSION:Families' 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.

Purpose: Accurate and understandable information after genetic testing is critical for patients, family members, and professionals alike.Methods: As part of a cross-site study from the Clinical Sequencing Evidence-Generating Research consortium, we investigated the information-seeking practices among patients and family members at 5 to 7 months after genetic testing results disclosure, assessing the perceived utility of a variety of information sources, such as family and friends, health care providers, support groups, and the internet.Results: We found that individuals placed a high value on information obtained from genetics professionals and health care workers, independent of genetic testing result case classifications as positive, inconclusive, or negative. The internet was also highly utilized and ranked. Study participants rated some information sources as more useful for positive results compared with inconclusive or negative outcomes, emphasizing that it may be difficult to identify helpful in-formation for individuals receiving an uncertain or negative result. There were few data from non-English speakers, highlighting the need to develop strategies to reach this population.Conclusion: Our study emphasizes the need for clinicians to provide accurate and compre-hensible information to individuals from diverse populations after genetic testing.& COPY; 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

Background: People living with cystic fibrosis (PwCF) face a lifetime of potentially traumatic illness related experiences that can lead to posttraumatic stress symptoms. Existing criteria for this type of post traumatic stress, called medical traumatic stress (MTS), may not fully capture the CF experience. In this study we aimed to explore: 1) illness-related experiences perceived as traumatic in the setting of CF, 2) perceived MTS symptoms in PwCF, and 3) perceived health-related functional impairments from MTS. Methods: Informed by our aims, we developed and piloted guides for semi-structured interviews and focus groups with PwCF, family members of PwCF, and CF medical providers. We then conducted a series of interviews and focus groups. The qualitative analytical process followed Deterding and Waters' three stages of flexible coding for in-depth interviews, generating key themes and sub-themes in each domain of study inquiry. Results: We recruited 51 participants, including 24 PwCF, 7 family members of PwCF, and 20 CF care team members. Illness-related experiences perceived as traumatic were often characterized by themes of loss of agency, threats of bodily harm, and shifts in identity. Prominent MTS symptoms included shame, survivor guilt, burden guilt, germaphobia, and symptom panic. Health-related themes of functional impairments perceived to result from MTS included poor adherence and strained relationships between providers and patients/families. Conclusions: This is the first study to explore the specific experiences of MTS in PwCF. It highlights the need for screening that includes these specific exposure types and symptoms, which may be mitigatable with medical trauma-focused interventions. Published by Elsevier B.V. on behalf of European Cystic Fibrosis Society. This is an open access article under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ )

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.

Maintaining continuity of HIV care and prevention resources is critical to the health, wellbeing, and at times survival of individuals who rely on those services. In California, disaster events and extreme conditions caused by climate change are becoming more frequent and intense, impacting many regions in what have become cycles of destruction and disruption. The HIV workforce, already under strain, must now contend with delivering services to clients during and in the wake of repeated climate-related events. From October 2021 to April 2022, using purposive and snowball sampling, we interviewed 18 HIV, sexual health, and harm reduction clinical and service providers in California counties heavily impacted by climate-related events. Participants were asked about their experiences providing services amid climate disasters, including reflections on client needs and strategies for maintaining continuity of care. Data were analyzed following the tenets of thematic analysis. We found that HIV, STI, and harm reduction service providers and their agencies play an integral role within their communities, both in maintaining continuity of essential services to clients during catastrophic events, as well as in disaster response as trusted community resources. We further found that individuals in these roles drive the innovations and adaptive strategies that allow their agencies to endure the shock and disruption of disaster events. Finally, we highlight the extent to which clinical and service providers experience harms due to cyclical climate disasters. We discuss existing research on health system resilience in the face of climate change, and identify a critical research gap: consideration of workforce needs is often limited to professional skills and capacity specific to caring for climate disaster survivors, rather than as support needed by workforce personnel who are survivors of disasters themselves. We propose recommendations for next steps and encourage further research on HIV workforce resilience in a new climate era.

… sociological research approaches carve out a space for complicating our engagement with proliferating and expanding gene

Purpose: This study aimed to understand broad data sharing decisions among predominantly underserved families participating in genomic research. Methods: Drawing on clinic observations, semistructured interviews, and survey data from prenatal and pediatric families enrolled in a genomic medicine study focused on historically underserved and underrepresented populations, this paper expands empirical evidence regarding genomic data sharing communication and decision-making. Results: One-third of parents declined to share family data, and pediatric participants were significantly more likely to decline than prenatal participants. The pediatric population was significantly more socioeconomically disadvantaged and more likely to require interpreters. Optin was tied to altruism and participants' perception that data sharing was inherent to research participation. Opt-out was associated with privacy concerns and influenced by clinical staff's presentation of data handling procedures. The ability of participants to make informed choices during enrollment about data sharing was weakened by suboptimal circumstances, which was revealed by poor understanding of data sharing in follow-up interviews as well as discrepancies between expressed participant desires and official recorded choices. Conclusion: These empirical data suggest that the context within which informed consent process is conducted in clinical genomics may be inadequate for respecting participants' values and preferences and does not support informed decision-making processes. (C) 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

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.

PURPOSE:Patients 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.METHODS:We 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.RESULTS:Underrepresented 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.CONCLUSION:A 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.