Conceptualization of utility in translational clinical genomics research.

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.

Caregivers' and providers' perspectives of social and medical care after pediatric liver transplant: Results from the multicenter SOCIAL-Tx study.

Disparities exist in pediatric liver transplant (LT). We characterized barriers and facilitators to providing transplant and social care within pediatric LT clinics. This was a multicenter qualitative study. We oversampled caregivers reporting household financial strain, material economic hardship, or demonstrating poor health literacy. We also enrolled transplant team members. We conducted semistructured interviews with participants. Caregiver interviews focused on challenges addressing transplant and household needs. Transplant provider interviews focused on barriers and facilitators to providing social care within transplant teams. Interviews were recorded, transcribed, and coded according to the Capability, Opportunity, Motivation-Behavior model. We interviewed 27 caregivers and 27 transplant team members. Fifty-two percent of caregivers reported a household income <$60,000, and 62% reported financial resource strain. Caregivers reported experiencing (1) high financial burdens after LT, (2) added caregiving labor that compounds the financial burden, (3) dependency on their social network's generosity for financial and logistical support, and (4) additional support being limited to the perioperative period. Transplant providers reported (1) relying on the pretransplant psychosocial assessment for identifying social risks, (2) discomfort initiating social risk discussions in the post-transplant period, (3) reliance on social workers to address new social risks, and (4) social workers feeling overburdened by quantity and quality of the social work referrals. We identified barriers to providing effective social care in pediatric LT, primarily a lack of comfort in assessing and addressing new social risks in the post-transplant period. Addressing these barriers should enhance social care delivery and improve outcomes for these children.

Community Health Center Staff Perspectives on Financial Payments for Social Care.

Policy Points State and federal payers are actively considering strategies to increase the adoption of social risk screening and interventions in health care settings, including through the use of financial incentives. Activities related to social care in Oregon community health centers (CHCs) provided a unique opportunity to explore whether and how fee-for-service payments for social risk screening and navigation influence CHC activities. CHC staff, clinicians, and administrative leaders were often unaware of existing financial payments for social risk screening and navigation services. As currently designed, fee-for-service payments are unlikely to strongly influence CHC social care practices. CONTEXT: A growing crop of national policies has emerged to encourage health care delivery systems to ask about and try to address patients' social risks, e.g., food, housing, and transportation insecurity, in care delivery contexts. In this study, we explored how community health center (CHC) staff perceive the current and potential influence of fee-for-service payments on clinical teams' engagement in these activities. METHODS: We interviewed 42 clinicians, frontline staff, and administrative leaders from 12 Oregon CHC clinical sites about their social care initiatives, including about the role of existing or anticipated financial payments intended to promote social risk screening and referrals to social services. Data were analyzed using both inductive and deductive thematic analysis approaches. FINDINGS: We grouped findings into three categories: participants' awareness of existing or anticipated financial incentives, uses for incentive dollars, and perceived impact of financial incentives on social care activities in clinical practices. Lack of awareness of existing incentives meant these incentives were not perceived to influence the behaviors of staff responsible for conducting screening and providing referrals. Current or anticipated meaningful uses for incentive dollars included paying for social care staff, providing social services, and supporting additional fundraising efforts. Frontline staff reported that the strongest motivator for clinic social care practices was the ability to provide responsive social services. Clinic leaders/managers noted that for financial incentives to substantively change CHC practices would require payments sizable enough to expand the social care workforce as well. CONCLUSIONS: Small fee-for-service payments to CHCs for social risk screening and navigation services are unlikely to markedly influence CHC social care practices. Refining the design of financial incentives-e.g., by increasing clinical teams' awareness of incentives, linking screening to well-funded social services, and changing incentive amounts to support social care staffing needs-may increase the uptake of social care practices in CHCs.

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. The pediatric population was significantly more socioeconomically disadvantaged and more likely to require interpreters. Opt-in 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.

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. 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.

Laboratory business models and practices: implications for availability and access to germline genetic testing.

PURPOSE: Germline testing laboratories have evolved over several decades. We describe laboratory business models and practices and explore their implications on germline testing availability and access. METHODS: We 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. RESULTS: We 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. CONCLUSION: Continued 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.

Comparing Patients' Experiences with Electronic and Traditional Consultation: Results from a Multisite Survey.

BACKGROUND: There have been no large-scale studies to date of patients' experiences with electronic consultation (eConsult) between primary and specialty care. OBJECTIVE: Compare experiences with eConsult and referral for in-person specialist consultation. DESIGN: Online survey 2-6 weeks following eConsult or referral at 9 US academic medical centers. PARTICIPANTS: Adult 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 MEASURES: Trust 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 RESULTS: A 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. CONCLUSIONS: This 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.

Patients Assess an eConsult Model's Acceptability at 5 US Academic Medical Centers.

PURPOSE: Electronic 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. METHODS: We 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. RESULTS: One 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. CONCLUSIONS: Primary 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.

Implementing an Opt-in eConsult Program at Seven Academic Medical Centers: a Qualitative Analysis of Primary Care Provider Experiences.

BACKGROUND: Electronic 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. OBJECTIVE: We sought to understand the PCP experience with eConsult to identify facilitators of and barriers to the successful adoption of the model. DESIGN AND PARTICIPANTS: We conducted 35 semi-structured interviews and 6 focus groups with a range of primary care providers at 7 AMCs participating in the AAMC collaborative. APPROACH: Interviews 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 RESULTS: We 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. CONCLUSIONS: Our 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.

The Action Research Program: Experiential Learning in Systems-Based Practice for First-Year Medical Students.

PROBLEM: Systems-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. INTERVENTION: A 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. CONTEXT: The 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. OUTCOME: Students 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 LEARNED: The 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.

Accounting for Complexity: Gene-environment Interaction Research and the Moral Economy of Quantification.

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.

Preventing Loss of Independence through Exercise (PLIÉ): qualitative analysis of a clinical trial in older adults with dementia.

OBJECTIVES: Preventing 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. METHODS: Qualitative 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. RESULTS: Three 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. CONCLUSIONS: These 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.

When to repatriate? Clinicians' perspectives on the transfer of patient management from specialty to primary care.

BACKGROUND: Subspecialty ambulatory care visits have doubled in the past 10 years and nearly half of all visits are for follow-up care. Could some of this care be provided by primary care providers (PCPs)? OBJECTIVE: To determine how often PCPs and specialists agree that a mutual patient's condition could be managed exclusively by the PCP, and to understand PCPs' perspectives on factors that influence decisions about 'repatriation,' or the transfer of patient management to primary care. DESIGN: A mixed method approach including paired surveys of PCPs and specialists about the necessity for ongoing specialty care of mutual patients, and interviews with PCPs about care coordination practices and reasons for differing opinions with specialists. PARTICIPANTS: One hundred and eighty-nine PCPs and 59 physicians representing five medicine subspecialties completed paired surveys for 343 patients. Semi-structured interviews were conducted with 16 PCPs. MEASUREMENTS: For each patient, PCPs and specialists were asked, "Could this diagnosis be managed exclusively by the PCP?" RESULTS: Specialists and PCPs agreed that transfer to primary care was appropriate for 16% of patients, whereas 36% had specialists and PCPs who agreed that ongoing specialty care was appropriate. Specialists were half as likely as PCPs to identify patients as appropriate for transfer to primary care. PCPs identified several factors that influence the likelihood that patients will be transferred to primary care, including perceived patient preferences, limited access to physician appointments, excessive workload, inter-clinician communication norms, and differences in clinical judgment. We group these factors into two domains: 'push-back' and 'pull-back' to primary care. CONCLUSIONS: At a large academic medical center, approximately one in six patients receiving ongoing specialty care could potentially be managed exclusively by a PCP. PCPs identified several non-clinical factors to explain continuation of specialty care when patient transfer to PCP is clinically appropriate.

Homogeneity and heterogeneity as situational properties: producing--and moving beyond?--race in post-genomic science.

In this article, we explore current thinking and practices around the logics of difference in gene-environment interaction research in the post-genomic era. We find that scientists conducting gene-environment interaction research continue to invoke well-worn notions of racial difference and diversity, but use them strategically to try to examine other kinds of etiologically significant differences among populations. Scientists do this by seeing populations not as inherently homogeneous or heterogeneous, but rather by actively working to produce homogeneity along some dimensions and heterogeneity along others in their study populations. Thus we argue that homogeneity and heterogeneity are situational properties--properties that scientists seek to achieve in their study populations, the available data, and other aspects of the research situation they are confronting, and then leverage to advance post-genomic science. Pointing to the situatedness of homogeneity and heterogeneity in gene-environment interaction research underscores the work that these properties do and the contingencies that shape decisions about research procedures. Through a focus on the situational production of homogeneity and heterogeneity more broadly, we find that gene-environment interaction research attempts to shift the logic of difference from solely racial terms as explanatory ends unto themselves, to racial and other dimensions of difference that may be important clues to the causes of complex diseases.

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population.

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.

One size does not fit all: evaluating an intervention to reduce antibiotic prescribing for acute bronchitis.

BACKGROUND: Overuse of antibiotics for upper respiratory tract infections (URIs) and acute bronchitis is a persistent and vexing problem. In the U.S., more than half of all patients with upper respiratory tract infections and acute bronchitis are treated with antibiotics annually, despite the fact that most cases are viral in etiology and are not responsive to antibiotics. Interventions aiming to reduce unnecessary antibiotic prescribing have had mixed results, and successes have been modest. The objective of this evaluation is to use mixed methods to understand why a multi-level intervention to reduce antibiotic prescribing for acute bronchitis among primary care providers resulted in measurable improvement in only one third of participating clinicians. METHODS: Clinician perspectives on print-based and electronic intervention strategies, and antibiotic prescribing more generally, were elicited through structured telephone surveys at high and low performing sites after the first year of intervention at the Geisinger Health System in Pennsylvania (n = 29). RESULTS: Compared with a survey on antibiotic use conducted 10 years earlier, clinicians demonstrated greater awareness of antibiotic resistance and how it is impacted by individual prescribing decisions-including their own. However, persistent perceived barriers to reducing prescribing included patient expectations, time pressure, and diagnostic uncertainty, and these factors were reported as differentially undermining specific intervention components' effectiveness. An exam room poster depicting a diagnostic algorithm was the most popular strategy. CONCLUSIONS: Future efforts to reduce antibiotic prescribing should address multi-level barriers identified by clinicians and tailor strategies to differences at individual clinician and group practice levels, focusing in particular on changing how patients and providers make decisions together about antibiotic use.

"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. 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.

Patient Perspectives on Social Risk Screening and Documentation in a Dermatology Clinic.

Importance: Providing person-centered dermatologic care includes consideration of social risk factors, such as housing instability and unreliable transportation, that may affect clinical management. Patients' perspectives on social risk screening and documentation in dermatology clinics have not yet been evaluated. Objective: To understand patients' perspectives on social risk screening and documentation in a dermatology clinic. Design, Setting, and Participants: This mixed-methods study used a survey and semistructured interviews and was conducted in a general dermatology clinic at a large urban public hospital. Patients at the clinic were eligible to complete the survey if they were 18 years or older; able to speak and read English, Spanish, or Cantonese; and comfortable using a computer tablet. Survey participants who preferred to use English were eligible for interviews. The survey included social risk screening questions, measures of acceptability, and questions on social risk factors associated with patient acceptability. Semistructured interviews were conducted to explore attitudes and beliefs about social risk screening and documentation. Survey and interview findings were integrated during data analysis through development of themes and joint display. Data were analyzed from December 2021 to April 2023. Main Outcomes and Measures: There were 2 outcome measures of acceptability: appropriateness of screening in a dermatology clinic and comfort with documentation of social risk in the electronic health record (EHR). Results: A total of 135 participants (including 73 males [54.1%]) answered both measures of acceptability in the survey. Of these participants, 116 (85.9%) reported that social risk screening in their dermatology clinic was very or somewhat appropriate and 85 (63.0%) reported being completely or somewhat comfortable with having their social risks documented in the EHR. Themes that were developed from surveys and interviews were the (1) role of interpersonal factors in willingness to disclose social risks, (2) implications of institutional trust for willingness to disclose and comfort with documentation, and (3) relevance of screening in a dermatology clinic. Conclusions and Relevance: Results of this study showed that most participants found social risk screening to be appropriate in a dermatology clinic, although a smaller proportion of participants were comfortable with EHR documentation of their social risks. Optimizing patients' trust in their physicians and the medical system, while addressing privacy and discrimination concerns, may help facilitate disclosure of social risks.

Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry.

Purpose: It has been hypothesized 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 genetic ancestry in a racially/ethnically diverse pediatric and prenatal clinical cohort. Methods: Cases (N=845) with suspected genetic disorders underwent ES for diagnosis. Continental 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. Results: We observed no reduction in overall DY associated with any continental genetic ancestry (Africa, America, East Asia, Europe, Middle East, South Asia). 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. Conclusions: 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 ethical and equitable use of ES in diagnosis of previously undiagnosed but potentially Mendelian disorders across all ancestral populations.

Massage for children undergoing hematopoietic cell transplantation: a qualitative report.

Background. No in-depth qualitative research exists about the effects of therapeutic massage with children hospitalized to undergo hematopoietic cell transplantation (HCT). The objective of this study is to describe parent caregivers' experience of the effects of massage/acupressure for their children undergoing HCT. Methods. We conducted a qualitative analysis of open-ended interviews with 15 parents of children in the intervention arm of a massage/acupressure trial. Children received both practitioner and parent-provided massage/acupressure. Results. Parents reported that their child experienced relief from pain and nausea, relaxation, and greater ease falling asleep. They also reported increased caregiver competence and closeness with their child as a result of learning and performing massage/acupressure. Parents supported a semistandardized massage protocol. Conclusion. Massage/acupressure may support symptom relief and promote relaxation and sleep among pediatric HCT patients if administered with attention to individual patients' needs and hospital routines and may relieve stress among parents, improve caregiver competence, and enhance the sense of connection between parent and child.