Using visual storytelling to share aggregate findings with families participating in clinical genomics research.

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.

Syndemic Theory and Its Use in Developing Health Interventions and Programming: A Scoping Review.

Purpose Of Review: 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.

Methods: Following an initial database search that produced 921 articles, we developed a multi-stage scoping review process identifying invention studies that employ syndemic theory.

Experts' Views on Children's Access to Community-Based Therapeutic and Education Services After Genomic Sequencing Results.

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.

How do we understand the value of drug checking as a component of harm reduction services? A qualitative exploration of client and provider perspectives.

Background: Mortality related to opioid overdose in the U.S. has risen sharply in the past decade.

Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions.

Purpose: 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.

Methods: 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.

The Parent PrU: A measure to assess personal utility of pediatric genomic results.

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.

Barriers and Facilitators of High-Efficiency Clinical Pathway Implementation in Community Hospitals.

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.

The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research.

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.

Participant perceptions of changes in psychosocial domains following participation in an adaptive deep brain stimulation trial.

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.

Insights from Drug Checking Programs: Practicing Bootstrap Public Health Whilst Tailoring to Local Drug User Needs.

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.

Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.

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.

"I Have Fought for so Many Things": Disadvantaged families' Efforts to Obtain Community-Based Services for Their Child after Genomic Sequencing.

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.

Medical traumatic stress in cystic fibrosis: A qualitative analysis.

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 posttraumatic 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.

Post-trial access in implanted neural device research: Device maintenance, abandonment, and cost.

Background: Clinical trial participants who benefit from experimental neural devices for the treatment of debilitating and otherwise treatment-resistant conditions are generally not ensured continued access to effective therapy or maintenance of devices at the conclusion of trials.

Objective/hypothesis: Post-trial obligations have been extensively examined in the context of drug trials, but there has been little empirical examination of stakeholder perspectives regarding these obligations in the rapidly growing field of neural device research.

Methods: This study examined the perspectives of 44 stakeholders (i.

Parental Hopes and Understandings of the Value of Prenatal Diagnostic Genomic Sequencing: A Qualitative Analysis.

To provide qualitative empirical data on parental expectations of diagnostic prenatal genomic sequencing and the value of the results to families. 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. 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.

"Let's Just Wait Until She's Born": Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research.

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.

Researchers' Ethical Concerns About Using Adaptive Deep Brain Stimulation for Enhancement.

The capacity of next-generation closed-loop or adaptive deep brain stimulation devices (aDBS) to read (measure neural activity) and write (stimulate brain regions or circuits) shows great potential to effectively manage movement, seizure, and psychiatric disorders, and also raises the possibility of using aDBS to electively (non-therapeutically) modulate mood, cognition, and prosociality. What separates aDBS from most neurotechnologies (e.g.

Researcher Views on Changes in Personality, Mood, and Behavior in Next-Generation Deep Brain Stimulation.

The literature on deep brain stimulation (DBS) and adaptive DBS (aDBS) raises concerns that these technologies may affect personality, mood, and behavior. We conducted semi-structured interviews with researchers ( = 23) involved in developing next-generation DBS systems, exploring their perspectives on ethics and policy topics including whether DBS/aDBS can cause such changes. The majority of researchers reported being aware of personality, mood, or behavioral (PMB) changes in recipients of DBS/aDBS.

Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.

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.

The Challenge of Recruiting Diverse Populations into Health Research: An embedded social science perspective.

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.

The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research.

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.

Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium.

Introduction: Ensuring 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.

Methods: Comprised 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.

Patient, Caregiver, and Decliner Perspectives on Whether to Enroll in Adaptive Deep Brain Stimulation Research.

This research study provides patient and caregiver perspectives as to whether or not to undergo adaptive deep brain stimulation (aDBS) research. A total of 51 interviews were conducted in a multi-site study including patients undergoing aDBS and their respective caregivers along with persons declining aDBS. Reasons highlighted for undergoing aDBS included hopes for symptom alleviation, declining quality of life, desirability of being in research, and altruism.