They do their utmost: promise and limits of palliative care in two refugee camps in Rwanda, a qualitative study.

After often gruelling journeys, some refugees arrive at secure locations with severe injury or illness. Others find themselves shortly thereafter facing a life-limiting health condition. Palliative care has been the focus of recent research, and of academic and aid sector dialogue. In this study, we ask: What are experiences and needs of patients and care providers? What opportunities and obstacles exist to enhance or introduce means of reducing suffering for patients facing serious illness and injury in crisis settings? We present findings of a qualitative sub-study within a larger programme of research exploring moral and practical dimensions of palliative care in humanitarian crisis contexts. This paper presents vignettes about palliative care from refugees and care providers in two refugee camps in Rwanda, and is among the first to provide empirical evidence on first-hand experiences of individuals who have fled protracted conflict and face dying far from home. Along with narratives of their experiences, participants provided a range of recommendations from small (micro) interventions that are low cost, but high impact, through to larger (macro) changes at the systems and societal levels of benefit to policy developers and decision-makers.

Reducing the burden of preventable deaths from sepsis in Canada: A need for a national sepsis action plan.

Sepsis is a global health threat with significant morbidity and mortality. Despite clinical practice guidelines and developed health systems, sepsis is often unrecognized or misdiagnosed, leading to preventable harm. In Canada, sepsis is responsible for 1 in 20 deaths and is a significant driver of health system costs. Despite being a signatory to the World Health Organization's Resolution WHA 70.7, adopted in 2017, Canada has not lived up to its commitment. Many existing sepsis policies were developed in response to a specific tragedy, and there is no national sepsis action plan. In this article, we describe the burden of sepsis, provide examples of existing, context-specific, reactionary sepsis policies, and urge a coordinated, proactive Canadian sepsis action plan to reduce the burden of sepsis.

A Benefit-Risk Conceptual Framework for Biologic Use During Pregnancy: A Mini-Review.

Recent reports related to in utero exposure of marketed immunosuppressive biologics led to clinical recommendations to delay live vaccinations for infants due to the concern of reduced vaccine effectiveness and/or increased risk of vaccine-related disease. These delays can increase the risk of children contracting vaccine preventable diseases, yet the alternative cessation of biologics during pregnancy may result in increased autoimmune disease activity for the pregnant person, raising complex benefit-risk (B-R) considerations and trade-offs. Our goal is to develop a conceptual framework for B-R assessment based on the key benefits and risks pregnant people would consider for themselves and their children when continuing (vs. discontinuing) a biologic during pregnancy. The proposed framework defines the decision contexts, key domains and attributes for potential benefits, and risks of biologic use during pregnancy, informed by a literature review of indications for biologics and refined with key clinical stakeholders. The framework includes both the pregnant person taking the biologic and the infant potentially exposed to the biologic in utero, with potential benefit and risk domains and attributes for each participant. To advance this conceptual framework, there are considerations of potential biases and uncertainty of available data that will be imperative to address when quantifying the B-R framework. For these reasons, we recommend the formation of a consortium to ensure development of a robust, validated framework that can be adopted in the healthcare setting.

Sepsis policy, guidelines and standards in Canada: a jurisdictional scoping review protocol.

INTRODUCTION: To our knowledge, this study is the first to identify and describe current sepsis policies, clinical practice guidelines, and health professional training standards in Canada to inform evidence-based policy recommendations. METHODS AND ANALYSIS: This study will be designed and reported according to the Arksey and O'Malley framework for scoping reviews and the Preferred Reporting Items for Systematic Review and Meta-Analyses Extension for Scoping Reviews. EMBASE, CINAHL, Medline, Turning Research Into Practice and Policy Commons will be searched for policies, clinical practice guidelines and health professional training standards published or updated in 2010 onwards, and related to the identification, management or reporting of sepsis in Canada. Additional sources of evidence will be identified by searching the websites of Canadian organisations responsible for regulating the training of healthcare professionals and reporting health outcomes. All potentially eligible sources of evidence will be reviewed for inclusion, followed by data extraction, independently and in duplicate. The included policies will be collated and summarised to inform future evidence-based sepsis policy recommendations. ETHICS AND DISSEMINATION: The proposed study does not require ethics approval. The results of the study will be submitted for publication in a peer-reviewed journal and presented at local, national and international forums.

Graduate training, credentialing, and continuing education to prepare genetic counselors for laboratory roles-Results of a national survey.

Opportunities for genetic counselors to work in a variety of practice settings have greatly expanded, particularly in the laboratory. This study aimed to assess attitudes of genetic counselors working both within and outside of the laboratory setting regarding (1) the re-wording and/or expansion of key measures of genetic counselors' competency, including practice-based competencies (PBCs) and board examination, to include laboratory roles, (2) preparation and transferability of competencies developed in master's in genetic counseling (MGC) programs to different roles, (3) need of additional training for genetic counselors to practice in laboratory settings, and (4) preferred methods to obtain that training. An e-blast was sent to ABGC diplomats (N = 5458) with a link to a 29-item survey with 12 demographic questions to compare respondents to 2021 NSGC Professional Status Survey (PSS) respondents. Statistical comparisons were made between respondents working in the laboratory versus other settings. Among 399 responses received, there was an oversampling of respondents working in the laboratory (52% vs. 20% in PSS) and in non-direct patient care positions (47% vs. 25% in PSS). Most respondents agreed the PBCs were transferable to their work yet favored making the PBCs less direct patient care-focused, expanding PBCs to align with laboratory roles, adding laboratory-focused questions to the ABGC exam, and adding laboratory-focused training in MGC programs. Most agreed requiring post-MGC training would limit genetic counselors' ability to change jobs. Genetic counselors working in the laboratory reported being significantly less prepared by their MGC program for some roles (p < 0.001) or how the PBCs applied to non-direct patient care positions (p < 0.001). Only 53% of all respondents agreed that NSGC supports their professional needs and others in their practice area, and genetic counselors working in the laboratory were significantly less likely to agree (p = 0.002). These sentiments should be further explored.

Childhood physical activity and pubertal timing: findings from the LEGACY girls study.

BACKGROUND: There is limited research on whether physical activity (PA) in early childhood is associated with the timing of pubertal events in girls. METHODS: We used data collected over 2011-16 from the LEGACY Girls Study (n = 984; primarily aged 6-13 years at study enrolment), a multicentre North American cohort enriched for girls with a breast cancer family history (BCFH), to evaluate if PA is associated with age at thelarche, pubarche and menarche. Maternal-reported questionnaire data measured puberty outcomes, PA in early childhood (ages 3-5 years) and total metabolic equivalents of organized PA in middle childhood (ages 7-9 years). We used interval-censored Weibull parametric survival regression models with age as the time scale and adjusted for sociodemographic factors, and we tested for effect modification by BCFH. We used inverse odds weighting to test for mediation by body mass index-for-age z-score (BMIZ) measured at study enrolment. RESULTS: Being highly active vs inactive in early childhood was associated with later thelarche in girls with a BCFH [adjusted hazard ratio (aHR) = 0.39, 95% CI = 0.26-0.59), but not in girls without a BCFH. In all girls, irrespective of BCFH, being in the highest vs lowest quartile of organized PA in middle childhood was associated with later menarche (aHR = 0.70, 95% CI = 0.50-0.97). These associations remained after accounting for potential mediation by BMIZ. CONCLUSION: This study provides new data that PA in early childhood may be associated with later thelarche in girls with a BCFH, also further supporting an overall association between PA in middle childhood and later menarche.

An Updated Equitable Model of Readiness for Transition to Adult Care: Content Validation in Young People With Sickle Cell Disease.

Importance: Despite elevated health risks during young adulthood, many adolescents and young adults with serious health care needs face barriers during the transfer to an adult specialty practitioner, and health disparities may occur during the transition. Objective: To validate the content of an updated Social-Ecological Model of Adolescent and Young Adult Readiness for Transition to Promote Health Equity (SMART-E) in a group of adolescents and young adults with sickle cell disease (SCD) and their supports. Design, Setting, and Participants: Health equity framework components were reviewed. Systems of power (eg, institutional and practitioner bias) and environments or networks (eg, peer or school support) were added as SMART-E preexisting factors, and health literacy was included within readiness factors. Adolescents and young adults aged 16 to 29 years with SCD, caregivers, and practitioners participated in this convergent, mixed-methods study within Children's Hospital of Philadelphia between January and August 2022. Main Outcomes and Measures: Content validity was assessed through nominations of top 3 most important transition barriers prior to interviews and focus groups, ratings on importance of SMART-E factors (0-4 scale; ratings >2 support validity) after interviews and focus groups, nominations of 3 most important factors for transition and for health equity, and qualitative content analysis of interview transcripts. Results: The study enrolled 10 pediatric adolescents and young adults (mean [SD] age, 18.6 [2.9] years; 4 female and 6 male), 10 transferred adolescents and young adults (mean [SD] age, 22.9 [2.1] years; 8 female and 2 male), 9 caregivers (mean [SD] age, 49.8 [8.7] years; 5 female and 4 male), and 9 practitioners (mean [SD] age, 45.6 [10.5] years; 8 female and 1 male). Quantitative ratings supported the content validity of SMART-E and met established criteria for validity. Systems of power was the most endorsed transition barrier (14 of 38 participants) reported prior to interviews and focus groups. After the interview, participants endorsed all SMART-E factors as important for transition, with new factors systems of power and environments and networks rated at a mean (SD) 2.8 (1.23) and 3.1 (0.90), respectively, on a 0 to 4 scale of importance. The most important factors for transition and equity varied by participant group, with all factors being endorsed, supporting the comprehensiveness of SMART-E. Qualitative data corroborated quantitative findings, further supporting validity, and minor modifications were made to definitions. Conclusions and Relevance: SMART-E obtained initial content validation with inclusion of health equity factors for adolescents and young adults with SCD, caregivers, and practitioners. The model should be evaluated in other populations of adolescents and young adults with chronic disease.

Correction: Doing our best and doing no harm: A focused ethnography of staff moral experiences of providing palliative care at a Médecins Sans Frontières pediatric hospital in Cox's Bazar, Bangladesh.

[This corrects the article DOI: 10.1371/journal.pone.0288938.].

A rapid review of community engagement and informed consent processes for adaptive platform trials and alternative design trials for public health emergencies.

Background : Public Health Emergencies (PHE) demand expeditious research responses to evaluate new or repurposed therapies and prevention strategies. Alternative Design Trials (ADTs) and Adaptive Platform Trials (APTs) have enabled efficient large-scale testing of biomedical interventions during recent PHEs. Design features of these trials may have implications for engagement and/or informed consent processes. We aimed to rapidly review evidence on engagement and informed consent for ADTs and APTs during PHE to consider what (if any) recommendations can inform practice. Method : In 2022, we searched 8 prominent databases for relevant peer reviewed publications and guidelines for ADTs/APTs in PHE contexts. Articles were selected based on pre-identified inclusion and exclusion criteria. We reviewed protocols and informed consent documents for a sample of large platform trials and consulted with key informants from ADTs/APT trial teams. Data were extracted and summarised using narrative synthesis. Results : Of the 49 articles included, 10 were guidance documents, 14 discussed engagement, 10 discussed informed consent, and 15 discussed both. Included articles addressed ADTs delivered during the West African Ebola epidemic and APTs delivered during COVID-19. PHE clinical research guidance documents highlight the value of ADTs/APTs and the importance of community engagement, but do not provide practice-specific guidance for engagement or informed consent. Engagement and consent practice for ADTs conducted during the West African Ebola epidemic have been well-documented. For COVID-19, engagement and consent practice was described for APTs primarily delivered in high income countries with well-developed health service structures. A key consideration is strong communication of the complexity of trial design in clear, accessible ways. Conclusion: We highlight key considerations for best practice in community engagement and informed consent relevant to ADTs and APTs for PHEs which may helpfully be included in future guidance. Protocol: The review protocol is published online at Prospero on 15/06/2022: registration number CRD42022334170.

Need for additional training to be a laboratory genetic counselor-A qualitative exploration.

Opportunities for genetic counselors to work in the laboratory have grown exponentially, yet the professional development needed to serve in these roles had not been previously explored. This study aimed to identify competencies required for entry-level genetic counselors working in the laboratory, explore the perceived level of preparation of these competencies as noted by experts in the laboratories, and assess the perceived value of additional credentialing for genetic counselors practicing in these settings. Twenty genetic counselors working in the laboratory setting and five MD or PhD laboratory managers, identified through purposeful and snowball sampling and with at least 5 years of experience working in a laboratory, were interviewed using a semi-structured protocol. Transcripts were analyzed thematically using deductive and inductive coding. Key findings included the distinction of laboratory and industry roles as involving nondirect patient care and differing from genetic counseling roles in the clinical setting. Genetic counselors working in the laboratory feel well prepared to transition into this setting and provide a unique patient-focused perspective to laboratory roles, including variant interpretation, marketing, and product development. Practice-based competencies (PBCs) were translatable to those used in the laboratory, yet variant interpretation, limitations of genomics-based tests, and the business of health care were noted as important to these roles but not fully addressed in the PBCs. Additional skills were often developed through on-the-job training and interdisciplinary collaboration, but more exposure to diverse roles in genetic counseling programs' didactic and field training was recommended. The majority felt that requiring an additional post-master's credential to work in the laboratory setting may restrict movement into these roles. Several questioned their identity as genetic counselors as they were no longer providing direct patient care and/or had been dissuaded by others from pursuing a laboratory position. Research focused on professional identity among genetic counselors working in nondirect patient care roles is warranted.

Doing our best and doing no harm: A focused ethnography of staff moral experiences of providing palliative care at a Médecins Sans Frontières pediatric hospital in Cox's Bazar, Bangladesh.

INTRODUCTION: The Médecins Sans Frontières (MSF) Goyalmara Hospital in Cox's Bazar, Bangladesh is a referral centre offering the highest level of care available in the Rohingya camps for pediatrics and neonatology. Efforts are underway to integrate pediatric palliative care due to high mortality and medical complexity of patients, yet little is known about the experiences of staff delivering palliative and end-of-life care. The purpose of this study was to understand the moral experiences of MSF staff to inform program planning and implementation. METHODS: This focused ethnography was conducted between March-August 2021 at Goyalmara Hospital. Data collection involved participant-observation, individual interviews (22), focus group discussions (5), and analysis of documents including MSF clinical guidelines, admission and referral criteria, reports, and training materials. Data analysis followed a modified version of the Qualitative Analysis Guide of Leuven and data were coded using NVivo software. RESULTS: The prevailing understanding of pediatric palliative care among national and international staff was care that prioritized comfort for infants and children who were not expected to survive. Staff's views were informed by their sense of obligation to do no harm, to do their best on behalf of their patients, and religious beliefs about God's role in determining the child's outcome. The authority of doctors, international staff, as well as protocols and guidelines shaped palliative care decision-making. Staff saw clinical guidelines as valuable resources that supported a consistent approach to care over time, while others were concerned that palliative care guidelines were rigidly applied. CONCLUSION: When integrating palliative care into humanitarian programs, it is important to emphasize the active role of palliative care in reducing suffering. Advocacy for access to the highest level of care possible should continue alongside palliative care integration. While palliative care guidelines are valuable, it is essential to encourage open discussion of staff concerns and adapt care plans based on the family's needs and preferences.

Addressing the underdiagnosis of familial hypercholesterolemia: A mixed methods study exploring the knowledge and practice behaviors of cardiology healthcare providers.

Background: Familial hypercholesterolemia (FH) is vastly underdiagnosed and causes an increased risk for sudden cardiac death. Cardiology providers (CHCPs) are in an ideal position to care for FH patients. This research aimed to understand the practice behaviors of CHCPs in the screening, diagnosis, and management of FH. Methods: Adaptation of an existing FH knowledge tool guided survey development. The results of the quantitative survey guided development of the interview protocol. CHCPs were recruited in the Division of Cardiology at Columbia University Irving Medical Center (CUIMC). A review of the educational materials offered by the Division of Cardiology was conducted to identify FH knowledge domains presented. Results: CHCPs with MDs, at CUIMC for 6-10 years, in clinical practice for 1-5 years, and in inpatient services had the highest average total knowledge scores. CHCPs with RNs, at CUIMC for less than 1 year, in clinical practice for 6-10 years, and in Cath Lab had the lowest average knowledge scores. Four themes emerged - variability in FH care; issues related to addressing FH at institutional, practice setting, and individual levels; importance of identifying FH early; and intervention approaches to overcome barriers to caring for FH patients in cardiology. CHCPs with MDs or with experiential FH knowledge described FH care beyond screening. The document review revealed that only MDs were provided lectures pertaining to FH. Conclusions: Future interventions should increase didactic and experiential FH knowledge incorporating institutional, local, and national FH resources. Improving FH care can reduce FH-related morbidity and mortality, as well as improve FH health outcomes.

Psychosocial impact of COVID-19 on caregivers and adolescents and young adult survivors of childhood cancer.

BACKGROUND: Caregivers and adolescents and young adult (AYA) cancer survivors may be at greater psychosocial risk from the COVID-19 pandemic than healthy peers due to complex and traumatic medical histories. This study describes COVID-19-related event exposures, impact, and distress among a large sample of caregivers and AYA cancer survivors and the relationship of these variables to demographic and cancer characteristics. PROCEDURE: From May 2020 to December 2021, 422 caregivers and 531 AYA survivors completed the COVID-19 Exposures and Family Impact Survey (CEFIS) and CEFIS-AYA, respectively. Total COVID-19-related exposures, average COVID-19-related impact, and COVID-19-related distress were calculated. Conventional content analysis was used to analyze free-text responses about the negative and positive effects of COVID-19. RESULTS: Caregivers and AYA reported an average of 7.4-7.8 COVID-19 exposures to pandemic-related events and a slightly negative impact of COVID-19 across psychosocial domains, with some positive impacts reported. COVID-19-related distress was moderate and clinically meaningful (4.9-5.2/10) for AYA and caregivers. Racial and ethnically minoritized AYA and caregivers reported higher COVID-19-related distress than non-Hispanic white caregivers. For AYA, distress was also higher among female, college-age (18-22 years), and long-term survivors compared with males, younger AYA, White and those recently off treatment. CEFIS outcomes remained relatively stable over time. CONCLUSIONS: COVID-19 had a significant and consistent negative impact on caregivers and AYA survivors. Racial and ethnically minoritized families and female, college-age, and long-term AYA survivors may require additional psychosocial support. Assessing for COVID-19 impact and distress is important in pediatric oncology to evaluate adjustment and plan targeted interventions.

Development and validation of a measure of adolescent and young adult goal-based quality of life (MAYA-GQOL).

PURPOSE: We developed and validated a measure assessing quality of life (QOL) through importance, attainability, and discrepancy of life goals among adolescents and young adults (AYA) with and without cancer. A specific goal-based QOL measure for AYA fills a critical gap in knowledge for AYA who are at a unique life stage, which may include shifts in priorities and goals. METHODS: Through review of our existing AYA databases on goals, the literature, and cognitive interviews we developed the MAYA-GQOL. Items were administered to AYA with cancer (on/off treatment) (n = 124) and healthy AYA controls (n = 103) aged 15-29 years old. Psychometric analyses for comparison with existing QOL measures and discrepancies in perceived importance/attainability of goals were examined. RESULTS: An item pool of 700 goals, based on prior research, was refined to 173 goals across nine categories: academic, administrative, body, health, job, leisure, interpersonal, intrapersonal, and religion. Validation between the MAYA-GQOL and existing QOL measures was supported. AYA survivors reported fewer overall current goals and fewer administrative, interpersonal, leisure, and religious goals. AYA survivors rated body goal importance significantly higher than healthy controls and intrapersonal goal importance significantly lower. Little discrepancy in importance and attainability across AYA was found. CONCLUSIONS: The MAYA-GQOL represents an innovative way of measuring QOL among AYA by focusing on the relative importance, attainability, and discrepancy of developmentally appropriate goals. The MAYA-GQOL can identify areas of resilience and competence via assessment of important and attainable goals and can further assess how AYA with chronic illness are functioning relative to peers on goal domains relevant to the AYA developmental period.

Aid when 'there is nothing left to offer': Experiences of palliative care and palliative care needs in humanitarian crises.

Access to palliative care, and more specifically the alleviation of avoidable physical and psychosocial suffering is increasingly recognized as a necessary component of humanitarian response. Palliative approaches to care can meet the needs of patients for whom curative treatment may not be the aim, not just at the very end of life but alleviation of suffering more broadly. In the past several years many organizations and sectoral initiatives have taken steps to develop guidance and policies to support integration of palliative care. However, it is still regarded by many as unfeasible or aspirational in crisis contexts; particularly where care for persons with life threatening conditions or injuries is logistically, legally, and ethically challenging. This article presents a synthesis of findings from five qualitative sub-studies within a research program on palliative care provision in humanitarian crises that sought to better understand the ethical and practical dimensions of humanitarian organizations integrating palliative care into emergency responses. Our multi-disciplinary, multi-national team held 98 in-depth semi-structured interviews with people with experiences in natural disasters, refugee camps in Rwanda and Jordan, and in Ebola Treatment Centers in Guinea. Participants included patients, family members, health care workers, and other staff of humanitarian agencies. We identified four themes from descriptions of the struggles and successes of applying palliative care in humanitarian settings: justification and integration of palliative care into humanitarian response, contextualizing palliative care approaches to crisis settings, the importance of being attentive to the 'situatedness of dying', and the need for retaining a holistic approach to care. We discuss these findings in relation to the ideals embraced in palliative care and corresponding humanitarian values, concluding that palliative care in humanitarian response is essential for responding to avoidable pain and suffering in humanitarian settings.

Maternal and prenatal factors and age at thelarche in the LEGACY Girls Study cohort: implications for breast cancer risk.

BACKGROUND: Earlier onset of breast development (thelarche) is associated with increased breast cancer risk. Identifying modifiable factors associated with earlier thelarche may provide an opportunity for breast cancer risk reduction starting early in life, which could especially benefit girls with a greater absolute risk of breast cancer due to family history. METHODS: We assessed associations of maternal pre-pregnancy body mass index (BMI), physical activity during pregnancy, gestational weight gain and daughters' weight and length at birth with age at thelarche using longitudinal Weibull models in 1031 girls in the Lessons in Epidemiology and Genetics of Adult Cancer from Youth (LEGACY) Girls Study-a prospective cohort of girls, half of whom have a breast cancer family history (BCFH). RESULTS: Girls whose mothers had a pre-pregnancy BMI of ≥25 and gained ≥30 lbs were 57% more likely to experience earlier thelarche than girls whose mothers had a pre-pregnancy BMI of <25 and gained <30 lbs [hazard ratio (HR) = 1.57, 95% CI: 1.16, 2.12]. This association was not mediated by childhood BMI and was similar in girls with and without a BCFH (BCFH: HR = 1.41, 95% CI: 0.87, 2.27; No BCFH: HR = 1.62, 95% CI: 1.10, 2.40). Daughters of women who reported no recreational physical activity during pregnancy were more likely to experience earlier thelarche compared with daughters of physically active women. Birthweight and birth length were not associated with thelarche. CONCLUSION: Earlier thelarche, a breast cancer risk factor, was associated with three potentially modifiable maternal risk factors-pre-pregnancy BMI, gestational weight gain and physical inactivity-in a cohort of girls enriched for BCFH.

Humans not heroes: Canadian emergency physician experiences during the early COVID-19 pandemic.

BACKGROUND: The pandemic has upended much clinical care, irrevocably changing our health systems and thrusting emergency physicians into a time of great uncertainty and change. This study is a follow-up to a survey that examined the early pandemic experience among Canadian emergency physicians and aimed to qualitatively describe the experiences of these physicians during the global pandemic. The study was conducted at a time when Canadian COVID-19 case numbers were low. METHODS: The investigators engaged in an interview-based study that used an interpretive description analytic technique, sensitised by the principles of phenomenology. One-to-one interviews were conducted, transcribed and then analysed to establish a codebook, which was subsequently grouped into key themes. Results underwent source triangulation (with survey data from a similar period) and investigator-driven audit trail analysis. RESULTS: A total of 16 interviews (11 female, 5 male) were conducted between May and September 2020. The isolated themes on emergency physicians' experiences during the early pandemic included: (1) disruption and loss of emergency department shift work; (2) stress of COVID-19 uncertainty and information bombardment; (3) increased team bonding; (4) greater personal life stress; (5) concern for patients' isolation, miscommunication and disconnection from care; (6) emotional distress. CONCLUSIONS: Canadian emergency physicians experienced emotional and psychological distress during the early COVID-19 pandemic, at a time when COVID-19 prevalence was low. This study's findings could guide future interventions to protect emergency physicians against pandemic-related distress.

Mother and Daughter Perspectives on Genetic Counseling and Testing of Adolescents for Hereditary Breast Cancer Risk.

OBJECTIVE: To evaluate the risks, benefits, and utility of testing for adult-onset hereditary breast and ovarian cancer (HBOC) in adolescents and young adults. STUDY DESIGN: We evaluated interest in genetic testing of adolescents for adult-onset HBOC genes through semistructured interviews with mothers and adolescents who had previously participated in breast cancer research or had pursued (mothers) clinical testing for HBOC. RESULTS: The majority of mothers (73%) and daughters (75%) were interested in the daughter having genetic testing and were motivated by the future medical utility and current social utility of relieving anxiety and allowing them to prepare. Mothers and daughters both reported that approximately 3 years in the future was the best time to test the daughter regardless of the current age of the daughter. Overall, both mothers and daughters expressed the importance of the involvement of the mother to provide educational and emotional support but ultimately it was the daughter's decision to test. Balancing the independence and maturity of the daughter while reinforcing communication and support within the dyad was a prominent theme throughout the interviews. CONCLUSIONS: There is interest among some high-risk adolescents and young adults to engage in genetic counseling and undergo testing. Providing pretest and posttest genetic counseling, assessing preferences for parent involvement, and offering psychosocial support may be important if genetic testing for HBOC is offered to adolescents and young adults before age 25 years.

Trajectories of Pain Severity and Interference Among Adolescent and Young Adults With Cancer: A Microlongitudinal Study.

OBJECTIVE: Cancer-related pain is a pervasive concern among adolescent and young adults (AYA) with cancer and is an emerging long-term health concern. Few studies have examined the complex contributions to pain among AYA. We aimed to fill a gap by (1) identifying subgroups of AYA with distinct patterns of pain severity and interference over time and (2) explore possible predictors of these patterns. METHODS: Daily text messages over a 9-week period were used to model group-based trajectory analyses of pain severity and interference by identifying subgroups of AYA who experience common patterns of changes in pain. Demographic, medical, physical symptom burden, and psychological distress were examined as possible predictors of these patterns. RESULTS: AYA were on average 16.93 years old and 2.5 years since diagnosis. Subgroups of AYA were identified for pain severity and interference over time: high variability (37.7%; 37.7%, respectively), consistent high pain (35.8%; 18.9%, respectively), and consistent low pain (26.4%; 43.4%, respectively). AYA with greater psychological distress were more likely to belong to the high consistent pain severity and interference groups. AYA with greater physical symptoms were more likely to belong to the high consistent pain interference group. No significant associations between demographic/medical characteristics and trajectory subgroups were found. CONCLUSIONS: AYA with elevated physical and psychological symptoms were more likely to experience high consistent pain severity and pain interreference over time. Interventions aimed at reducing pain through focusing on teaching AYA how to alleviate physical symptoms and teaching coping skills to manage psychological distress may be beneficial.

The current state of adult metabolic medicine in the United States: Results of a nationwide survey.

PURPOSE: Patients with inherited metabolic disorders (IMDs) now have improved health outcomes and increased survival into adulthood. There is scant evidence on managing adults with IMDs. We present an analysis of current care practices for adults with IMDs in the United States. METHODS: We created and distributed an online survey to US members of the Society of Inherited Metabolic Disorders. The survey addressed ambulatory care, acute management, and health care transition (HCT) practices of adults with IMDs. RESULTS: The survey was completed by 91 providers from 73 institutions. Most adult patients with IMDs receive lifelong care from a single metabolic clinician, predominantly in pediatric clinic settings. Adults receive comprehensive ambulatory metabolic care, but fewer trainees participate compared with pediatric visits. Most acute IMD management occurs in pediatric hospitals. Clinician comfort with HCT increased the frequency of HCT planning. Overall, all respondents felt that providing specialized care to adults with IMDs is high value. CONCLUSION: Our survey demonstrates the paucity of clinical resources dedicated to adult metabolic medicine. Care is fragmented and varies by medical system. Interest in HCT is robust but would benefit from standardized practices. Our findings reinforce the need for greater focus on adult metabolic medicine in the United States.