Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey.

BACKGROUND: Although individually rare, collectively, rare conditions are common and affect a large number of people and are often chronic, life threatening and affect multiple body systems; the majority of them have no effective treatment. The literature has identified many specific challenges for those living with rare conditions, however, we do not know which of these in combination are most likely to impact how someone rates their overall experience of care. The aim of this study is to do further exploratory analysis of the Genetic Alliance UK 2020 Rare Experience survey data to identify which variables are most strongly associated with respondents' overall care experience. RESULTS: There were strong associations between most of the selected survey variables and the overall rated experience of care variable. In the multiple linear regression only nine variables remained in the best fit model: 'Trust and confidence in hospital staff involved in ongoing care'; 'Satisfaction with information provided by healthcare professionals-following diagnosis'; 'The professionals providing care work as a team'; 'Feel care is coordinated effectively'; 'The timing and frequency of appointments are convenient for the patient/carer/family'; 'Whether or not there is a specific healthcare professional to ask questions of about the rare/undiagnosed condition'; 'Experience of searching for a diagnosis'; 'Knowledge of whether there is a specialist centre for the condition'; and 'Number of different clinics attend for the condition'. CONCLUSIONS: Our findings indicate the challenges that play the largest part in explaining the varied experiences with rare disease healthcare in the UK for our survey respondents. These challenges should be further investigated with a broader sample of people affected by rare conditions, ideally through the implementation of a comprehensive national rare condition patient registry. Our findings highlight an important potential gap in the Framework, 'trust and confidence in healthcare professionals'; further research is required to fully understand the foundations of trust and confidence.

Disparities Among Pediatric Firearm Suicides in the United States: An Analysis of the National Violent Death Reporting System, 2014 to 2018.

Suicide is a leading cause of death in the United States (U.S.), with firearms being the predominant method. This study examines the racial disparity and disproportionality of pediatric firearm suicide from 2014 to 2018 in 17 U.S. states. We used the National Violent Death Reporting System to quantify the burden of pediatric firearm suicide by race/ethnicity and gender and assessed themes among decedents aged 10 to 17 years. Racial disparity and disproportionality were measured using the Disparity Index and Disproportionality Representation Index, respectively. Decedents were primarily non-Hispanic White (NHW, 77.5%) and male (84.0%). NHW children died at a rate that was 1.3 times greater than expected based on their proportion in the general population and were 2.6 times more likely to die by firearm suicide than non-Hispanic Black (NHB) children. NHB children were less likely to disclose suicide intention, suggesting that this group may require more active screening intervention. Qualitative analysis revealed unsafe firearm storage as a common theme among these deaths. Differences in age with respect to social media use and precipitating factors such as bullying and arguments with parents were also identified as contributing factors. Results of this study support the expansion of interventions such as lethal means restriction counseling and implementation of safer firearm storage laws.

The Effects of Music-Based Interventions for Pain and Anxiety Management during Vaginal Labour and Caesarean Delivery: A Systematic Review and Narrative Synthesis of Randomised Controlled Trials.

Music-based interventions are not physically invasive, they usually have minimal side effects, and they are increasingly being implemented during the birthing process for pain and anxiety relief. The aim of this systematic review is to summarise and evaluate published, randomised controlled trials (RCTs) assessing the effects of music-based interventions for pain and anxiety management during vaginal labour and caesarean delivery. Following the PRISMA guidelines, a systematic search of the literature was conducted using: PsychInfo (Ovid), PubMed, and Web of Science. Studies were included in the review if they were RCTs that assessed the effects of music on pain and anxiety during vaginal and caesarean delivery by human mothers. A narrative synthesis was conducted on 28 identified studies with a total of 2835 participants. Most, but not all, of the included studies assessing music-based interventions resulted in reduced anxiety and pain during vaginal and caesarean delivery. Music as part of a comprehensive treatment strategy, participant-selected music, music coupled with another therapy, and relaxing/instrumental music was specifically useful for reducing light to moderate pain and anxiety. Music-based interventions show promising effects in mitigating pain and anxiety in women during labour. However, the long-term effects of these interventions are unclear.

Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.

BACKGROUND: Poorly coordinated care can have major impacts on patients and families affected by rare conditions, with negative physical health, psychosocial and financial consequences. This study aimed to understand how care is coordinated for rare diseases in the United Kingdom. METHODS: We undertook a national survey in the UK involving 760 adults affected by rare diseases, 446 parents/carers of people affected by rare diseases, and 251 healthcare professionals who care for people affected by rare diseases. RESULTS: Findings suggested that a wide range of patients, parents and carers do not have coordinated care. For example, few participants reported having a care coordinator (12% patients, 14% parents/carers), attending a specialist centre (32% patients, 33% parents/carers) or having a care plan (10% patients, 44% parents/carers). A very small number of patients (2%) and parents/carers (5%) had access to all three-a care coordinator, specialist centre and care plan. Fifty four percent of patients and 33% of parents/carers reported access to none of these. On the other hand, a higher proportion of healthcare professionals reported that families with rare conditions had access to care coordinators (35%), specialist centres (60%) and care plans (40%). CONCLUSIONS: Care for families with rare conditions is generally not well coordinated in the UK, with findings indicating limited access to care coordinators, specialist centres and care plans. Better understanding of these issues can inform how care coordination might be improved and embrace the needs and preferences of patients and families affected by rare conditions.

Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project.

We used cross-sectional surveys to compare the knowledge, attitudes, and decision regret of participants who had consented for genome sequencing (GS) for rare disease diagnosis in the 100,000 Genomes Project (100kGP) across two timepoints (at the time of consenting for GS (T1) and 12-18 months later (T2)). At T1, participants (n = 504) completed a survey that included measures of general knowledge of GS ("Knowledge of Genome Sequencing" (KOGS)), specific knowledge of GS and attitudes towards GS ("General attitudes" and "Specific attitudes"). At T2, participants (n = 296) completed these same assessments (apart from the specific knowledge scale) together with an assessment of decision regret towards GS ("Decisional Regret Scale"). At 12-18 months after consenting for GS, participants' basic knowledge of GS had remained stable. General knowledge of GS varied across topics; concepts underlying more general information about genetics were better understood than the technical details of genomic testing. Attitudes towards GS at T2 were generally positive, and feelings towards GS (both positive and negative) remained unchanged. However, those who were more positive about the test at the outset had greater specific knowledge (as opposed to general knowledge) of GS. Finally, although the majority of participants indicated feeling little regret towards undergoing GS, those with low positive attitude and high negative attitude about GS at T1 reported greater decision regret at T2. Careful assessment of patient knowledge about and attitudes towards GS at the time of offering testing is crucial for supporting informed decision making and mitigating later regret.

Race, ethnicity, and clinical outcome following sport-related concussion: a systematic review.

Introduction: This systematic review examined whether race or ethnicity are associated with clinical outcomes (e.g., time to return to school/sports, symptom duration, vestibular deficits, and neurocognitive functioning) following sport-related concussion among child, adolescent, or college-aged student athletes. Additionally, this review assessed whether the existing literature on this topic incorporated or included broader coverage of social determinants of health. Methods: The online databases PubMed, MEDLINE®, PsycINFO®, CINAHL, Cochrane Library, EMBASE, SPORTDiscus, Scopus, and Web of Science were searched. Results: A total of 5,118 abstracts were screened and 12 studies met inclusion criteria, including 2,887 youth and young adults. Among the included articles, only 3 studies (25%) examined whether race and ethnicity were associated with outcomes following concussion as a primary objective. None of the studies assessed the association between social determinants of health and outcomes following concussion as a primary objective, although 5 studies (41.7%) addressed a social determinant of health or closely related topic as a secondary objective. Discussion: Overall, the literature to date is extremely limited and insufficient for drawing conclusions about whether race or ethnicity are categorically associated with outcomes from sport-related concussion, or more specifically, whether there are socioeconomic, structural, or cultural differences or disparities that might be associated with clinical outcome. Systematic review registration: identifier: PROSPERO, CRD42016041479, CRD42019128300.

An examination of factors contributing to the racial disparity and disproportionality of paediatric firearm-related homicide: a mixed-methods analysis using the national violent death reporting system (NVDRS).

Firearms are a leading cause of paediatric mortality in the United States. This study examines the contributing factors of racial disparity and disproportionality among paediatric firearm decedents aged 0-17 years.We used the National Violent Death Reporting System (NVDRS) to assess the individual and incident-level circumstances of paediatric firearm homicides from 2014 to 2018 in 17 US states.Among 1085 paediatric firearm homicides, non-Hispanic blacks (NHB) died at a rate three times greater than their proportion in the general population; they were nine times as likely to die by firearm homicide as non-Hispanic whites (NHW). NHW children were more often the victims of firearm homicide perpetrated by a parent/caregiver, and of homicide-suicides.Violence interruption programmes among NHB youth, and family-based interventions among NHW youth may be effective in preventing firearm homicide and homicide-suicide. Systematic investigations into firearm homicide perpetrators are necessary to better understand observed racial disparities.

Rural implementation of the perioperative surgical home: A case-control study.

BACKGROUND: Perioperative surgical home (PSH) is a novel patient-centric surgical system developed by American Society of Anesthesiologist to improve outcomes and patient satisfaction. PSH has proven success in large urban health centers by reducing surgery cancellation, operating room time, length of stay (LOS), and readmission rates. Yet, only limited studies have assessed the impact of PSH on surgical outcomes in rural areas. AIM: To evaluate the newly implemented PSH system at a community hospital by comparing the surgical outcomes using a longitudinal case-control study. METHODS: The research study was conducted at an 83-bed, licensed level-III trauma rural community hospital. A total of 3096 TJR procedures were collected retrospectively between January 2016 and December 2021 and were categorized as PSH and non-PSH cohorts (n = 2305). To evaluate the importance of PSH in the rural surgical system, a case-control study was performed to compare TJR surgical outcomes (LOS, discharge disposition, and 90-d readmission) of the PSH cohort against two control cohorts [Control-1 PSH (C1-PSH) (n = 1413) and Control-2 PSH (C2-PSH) (n = 892)]. Statistical tests including Chi-square test or Fischer's exact test were performed for categorical variables and Mann-Whitney test or Student's t-test were performed for continuous variables. The general linear models (Poisson regression and binomial logistic regression) were performed to fit adjusted models. RESULTS: The LOS was significantly shorter in PSH cohort compared to two control cohorts (median PSH = 34 h, C1-PSH = 53 h, C2-PSH = 35 h) (P value < 0.05). Similarly, the PSH cohort had lower percentages of discharges to other facilities (PSH = 3.5%, C1-PSH = 15.5%, C2-PSH = 6.7%) (P value < 0.05). There was no statistical difference observed in 90-d readmission between control and PSH cohorts. However, the PSH implementation reduced the 90-d readmission percentage (PSH = 4.7%, C1-PSH = 6.1%, C2-PSH = 3.6%) lower than the national average 30-d readmission percentage which is 5.5%. The PSH system was effectively established at the rural community hospital with the help of team-based coordinated multi-disciplinary clinicians or physician co-management. The elements of PSH including preoperative assessment, patient education and optimization, and longitudinal digital engagement were vital for improving the TJR surgical outcomes at the community hospital. CONCLUSION: Implementation of the PSH system in a rural community hospital reduced LOS, increased direct-to-home discharge, and reduced 90-d readmission percentages.

Predicting Length of Stay using machine learning for total joint replacements performed at a rural community hospital.

BACKGROUND: Predicting patient's Length of Stay (LOS) before total joint replacement (TJR) surgery is vital for hospitals to optimally manage costs and resources. Many hospitals including in rural areas use publicly available models such as National Surgical Quality Improvement Program (NSQIP) calculator which, unfortunately, performs suboptimally when predicting LOS for TJR procedures. OBJECTIVE: The objective of this research was to develop a Machine Learning (ML) model to predict LOS for TJR procedures performed at a Perioperative Surgical Home implemented rural community hospital for better accuracy and interpretation than the NSQIP calculator. METHODS: A total of 158 TJR patients were collected and analyzed from a rural community hospital located in Montana. A random forest (RF) model was used to predict patient's LOS. For interpretation, permuted feature importance and partial dependence plot methods were used to identify the important variables and their relationship with the LOS. RESULTS: The root mean square error for the RF model (0.7) was lower than the NSQIP calculator (1.21). The five most important variables for predicting LOS were BMI, Duke Activity Status-Index, diabetes, patient's household income, and patient's age. CONCLUSION: This pilot study is the first of its kind to develop an ML model to predict LOS for TJR procedures that were performed at a small-scale rural community hospital. This pilot study contributes an approach for rural hospitals, making them more independent by developing their own predictions instead of relying on public models.

Assessing the Effect of Electronic Medical Record Note Template on Firearm Access Screening in High-Risk Children.

BACKGROUND: Children who survive a suicide attempt are at greater risk of later dying by suicide. Firearm screening and provision of lethal means restriction counseling may improve the safety of this high-risk cohort. Our objective was to determine firearm screening rates among children hospitalized after suicide attempts. We also assessed the effects of templating firearm screening questions into the psychiatric consultation note. METHODS: This retrospective pre- and postintervention study identified children <19 years old admitted after a suicide attempt from January 1, 2016 to March 1, 2020. In mid-2017, the psychiatry consult note incorporated a previously available optional firearm screening tool as an embedded field (intervention). The intervention effect on proportion of children at high risk screened for firearm access was assessed by interrupted time series analysis. RESULTS: Of 26 088 total admissions, 357 met inclusion criteria. The majority were teenagers (15 years old, interquartile range 14 to 16), 275 were female (77%), and 167 were White (47%). Overall, 286 (80%) of patients had firearm access screening documentation. Of the 71 (20%) without screening, 21 (30%) were discharged from the hospital; 50 (70%) were transferred to psychiatric facilities. There was no significant difference in screening rates after the intervention (Intervention shift P = .74, slope P = .85). CONCLUSIONS: Many children were not screened for firearm access after a suicide attempt requiring hospitalization despite the screening tool integration. Multidisciplinary quality improvement efforts are needed to ensure that this critical risk reduction intervention is implemented for all patients after a suicide attempt.

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.

The communication of genomic results to patients and families with rare diseases raise distinctive challenges. However, there is little evidence about optimal methods to communicate results to this group of service users. To address this gap, we worked with rare disease families and health professionals from two genetic/genomic services, one in the United Kingdom and one in the Czech Republic, to co-design that best meet their needs. Using the participatory methodology of Experience-Based Co-Design (EBCD), we conducted observations of clinical appointments (n=49) and interviews with family participants (n=23) and health professionals (n=22) to gather their experience of sharing/receiving results. The findings informed a facilitated co-design process, comprising 3 feedback events at each site and a series of meetings and remote consultations. Participants identified a total of four areas of current service models in need of improvement, and co-designed six prototypes of quality improvement interventions. The main finding was the identification of post-test care as the shared priority for improvement for both health professionals and families at the two sites. Our findings indicate the need to strengthen the link between diagnostics (whether or not a pathogenic variant is found) and post-test care, including psychosocial and community support. This raises implications for the reconfigurations of genomic service models, the redefinition of professional roles and responsibilities and the involvement of rare disease patients and families in health care research.

Research priorities for mitochondrial disorders: Current landscape and patient and professional views.

Primary mitochondrial disorders encompass a wide range of clinical presentations and a spectrum of severity. They currently lack effective disease-modifying therapies and have a high mortality and morbidity rate. It is therefore essential to know that competitively funded research designed by academics meets the core needs of people with mitochondrial disorders and their clinicians. Priority setting partnerships are an established collaborative methodology that brings patients, carers and families, charity representatives and clinicians together to try to establish the most pressing and unanswered research priorities for a particular disease. We developed a web-based questionnaire, requesting all patients affected by primary mitochondrial disease, their carers and clinicians to pose their research questions. This yielded 709 questions from 147 participants. These were grouped into overarching themes including basic biology, causation, health services, clinical management, social impacts, prognosis, prevention, symptoms, treatment and psychological impact. Following the removal of "answered questions", the process resulted in a list of 42 discrete, answerable questions. This was further refined by web-based ranking by the community to 24 questions. These were debated at a face-to-face workshop attended by a diverse range of patients, carers, charity representatives and clinicians to create a definitive "Top 10 of unanswered research questions for primary mitochondrial disorders". These Top 10 questions related to understanding biological processes, including triggers of disease onset, mechanisms underlying progression and reasons for differential symptoms between individuals with identical genetic mutations; new treatments; biomarker discovery; psychological support and optimal management of stroke-like episodes and fatigue.

Mental health care for rare disease in the UK - recommendations from a quantitative survey and multi-stakeholder workshop.

BACKGROUND: Rare disease patients and carers report significant impacts on mental health but studies on UK populations have focussed on relatively few, specific conditions. Collectively rare conditions represent a substantial health burden, with an estimated 3.5 million affected individuals in the UK. METHOD: We explored the impact on mental health of living with a rare condition, and experiences of health service support, through an online survey. The survey assessed the impact of specific experiences commonly reported by those affected by a rare condition through multiple choice questions and Likert scale items, and open text question boxes. Through a multi-stakeholder workshop that involved facilitated discussion of our findings with patients/carers, clinicians and a government advisor, we developed recommendations for policy and practice toward a more person-centred and integrated approach. RESULTS: Eligible responses came from 1231 patients and 564 carers. Due to their rare condition, the majority of respondents (> 90%) had felt worried/anxious; stressed; and /or low/depressed. Thirty-six percent of patients and 19% of carers had had suicidal thoughts. Challenges that are particular to rare conditions and which negatively affect mental health included limited knowledge of the condition amongst healthcare professionals (88%), and not being believed or taken seriously by them. Only 23% of respondents felt healthcare professionals considered mental and physical health as equally important. Almost half reported never having been asked about mental health by healthcare professionals. Our findings indicate that access to, and appropriateness of, professional psychological support needs to be improved. Peer group support is important but signposting is inadequate. Our recommendations are for healthcare professionals to be supported to effectively and sensitively recognise and address patients' and carers' mental health needs; and for service level coordination of care to integrate professional psychological support with rare disease services. CONCLUSION: Living with a rare disease substantially impacts mental health. Many of the drivers of poor mental health reflect issues specific to managing rare conditions. To meet UK government commitments, there should be a focus on empowering healthcare professionals who treat rare disease patients and on integration of mental health support with rare disease services.

Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study.

BACKGROUND: Improving care coordination is particularly important for individuals with rare conditions (who may experience multiple inputs into their care, across different providers and settings). To develop and evaluate strategies to potentially improve care coordination, it is necessary to develop a method for organising different ways of coordinating care for rare conditions. Developing a taxonomy would help to describe different ways of coordinating care and in turn facilitate development and evaluation of pre-existing and new models of care coordination for rare conditions. To the authors' knowledge, no studies have previously developed taxonomies of care coordination for rare conditions. This research aimed to develop and refine a care coordination taxonomy for people with rare conditions. METHODS: This study had a qualitative design and was conducted in the United Kingdom. To develop a taxonomy, six stages of taxonomy development were followed. We conducted interviews (n = 30 health care professionals/charity representatives/commissioners) and focus groups (n = 4 focus groups, 22 patients/carers with rare/ultra-rare/undiagnosed conditions). Interviews and focus groups were audio-recorded with consent, and professionally transcribed. Findings were analysed using thematic analysis. Themes were used to develop a taxonomy, and to identify which types of coordination may work best in which situations. To refine the taxonomy, we conducted two workshops (n = 12 patients and carers group; n = 15 professional stakeholder group). RESULTS: Our taxonomy has six domains, each with different options. The six domains are: (1) Ways of organising care (local, hybrid, national), (2) Ways of organising those involved in care (collaboration between many or all individuals, collaboration between some individuals, a lack of collaborative approach), (3) Responsibility for coordination (administrative support, formal roles and responsibilities, supportive roles and no responsibility), (4) How often appointments and coordination take place (regular, on demand, hybrid), (5) Access to records (full or filtered access), and (6) Mode of care coordination (face-to-face, digital, telephone). CONCLUSIONS: Findings indicate that there are different ways of coordinating care across the six domains outlined in our taxonomy. This may help to facilitate the development and evaluation of existing and new models of care coordination for people living with rare conditions.

Child maltreatment-related children's emergency department visits before and during the COVID-19 pandemic in Connecticut.

BACKGROUND: Previous studies of national emergency department (ED) data demonstrate a decrease in visits coded for physical abuse during the pandemic period. However, no study to date has examined the incidence of multiple child maltreatment types (physical abuse, sexual abuse, and neglect), within a single state while considering state-specific closure policies. Furthermore, no similar study has utilized detailed chart review to identify cases, nor compared hospital data to Child Protective Services (CPS) reports. OBJECTIVE: To determine the incidence of child maltreatment-related ED visits before and during the COVID-19 pandemic, including characterizing the type of maltreatment, severity, and CPS reporting. PARTICIPANTS AND SETTING: Children younger than 18 years old at two tertiary-care, academic children's hospitals in X state. METHODS: Maltreatment-related ED visits were identified by ICD-10-CM codes and keywords in chief concerns and provider notes. We conducted a cross-sectional retrospective review of ED visits and child abuse consultations during the pre-COVID (1/1/2019-3/15/2020) and COVID (3/16/2020-8/31/2020) periods, as well as state-level CPS reports for suspected maltreatment. RESULTS: Maltreatment-related ED visits decreased from 15.7/week in the matched pre-COVID period (n = 380 total) to 12.3/week (n = 296 total) in the COVID period (P < .01). However, ED visits (P < .05) and CPS reports (P < .001) for child neglect increased during this period. Provider notes identified 62.4% of child maltreatment ED visits, while ICD-10 codes identified only-CM captured 46.8%. CONCLUSION: ED visits for physical and sexual abuse declined, but neglect cases increased during the COVID-19 pandemic in X state.

Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study.

In this mixed methods study, a survey and in-depth interviews were used to explore whether decision regret and the psychological impact of receiving genome sequencing (GS) results differed between parents and patients, and between those who received a genetic diagnosis and those who did not. Participants (n = 77) completed a survey that included the Decisional Regret Scale (DRS) and an adaptation of the Multidimensional Impact of Cancer Risk Assessment (MICRA) at least 12 months after consenting for GS for rare disease diagnosis in the 100,000 Genomes Project. Survey participants were invited to take part in an interview and 39 agreed; 12 with a diagnosis, 5 with variants of uncertain significance, and 19 with no pathogenic findings identified. Both survey and interview findings indicated that decision regret was low. DRS scores revealed no differences in levels of regret between parents and patients, or between those with a diagnosis and those without. Though MICRA scores indicated minimal evidence of negative psychological impacts of receiving GS results, subscale analysis revealed greater distress and uncertainty for parents compared to patients. Receiving a diagnosis was found not to influence MICRA scores, supporting interview findings of both positive and negative emotional and psychological impacts irrespective of a genetic diagnosis. Our findings have implications for policy and practice as GS is integrated into the UK and worldwide; notably, that expectation-setting is critical when offering GS, and that post-test counselling is important regardless of the GS result received, with parents perhaps needing additional emotional support.

Development of models of care coordination for rare conditions: a qualitative study.

INTRODUCTION: Improving care coordination for people with rare conditions may help to reduce burden on patients and carers and improve the care that patients receive. We recently developed a taxonomy of different ways of coordinating care for rare conditions. It is not yet known which models of care coordination are appropriate in different situations. This study aimed to: (1) explore what types of care coordination may be appropriate in different situations, and (2) use these findings to develop hypothetical models of care coordination for rare conditions. METHODS: To explore appropriateness of different types of care coordination, we conducted interviews (n = 30), four focus groups (n = 22) and two workshops (n = 27) with patients, carers, healthcare professionals, commissioners, and charity representatives. Participants were asked about preferences, benefits and challenges, and the factors influencing coordination. Thematic analysis was used to develop hypothetical models of care coordination. Models were refined following feedback from workshop participants. RESULTS: Stakeholders prefer models of care that: are nationally centralised or a hybrid of national and local care, involve professionals collaborating to deliver care, have clear roles and responsibilities outlined (including administrative, coordinator, clinical and charity roles), provide access to records and offer flexible appointments (in terms of timing and mode). Many factors influenced coordination, including those relating to the patient (e.g., condition complexity, patient's location and ability to coordinate their own care), the healthcare professional (e.g., knowledge and time), the healthcare environment (e.g., resources) and societal factors (e.g., availability of funding). We developed and refined ten illustrative hypothetical models of care coordination for rare conditions. CONCLUSION: Findings underline that different models of care coordination may be appropriate in different situations. It is possible to develop models of care coordination which are tailored to the individual in context. Findings may be used to facilitate planning around which models of care coordination may be appropriate in different services or circumstances. Findings may also be used by key stakeholders (e.g. patient organisations, clinicians and service planners) as a decision-making tool.

An examination of fatal child poisonings in the United States using the National Violent Death Reporting System (NVDRS), 2012-2017.

BACKGROUND: Fatal drug overdoses are predominantly attributed to opioids. Women of childbearing age are among those at greatest risk, underscoring the need to understand the overlapping risk of fatal poisoning in children. METHODS: A retrospective analysis of fatal poisonings among decedents aged 0-9 years captured in the National Violent Death Reporting System (NVDRS) from 2012 to 2017 was employed. Poisonings were identified using International Classification of Diseases, Tenth Revision (ICD-10) codes for poisonings (T36-T50, Y10-Y19), toxic effects of substances (T51-T65), and assault (X85-X90). The frequency and types of drugs involved in poisonings were derived from toxicological analysis. Logistic regression was used to model the odds of fatal poisoning by decedent and perpetrator characteristics. Qualitative content analysis was used to contextualize the patterns of fatal poisonings. FINDINGS: 1850 violent deaths were identified; 7% (n = 122) were poisoning-related, and 50% of these were attributed to opioids. Next, benzodiazepines (8%), amphetamines (7%), and antidepressants (5%) were most prevalent. Among poisoning-related deaths, 25% involved homicide-suicide. No differences in deaths were observed according to child race/ethnicity, and the risk of fatal poisoning decreased 6% with each year of child age. Following qualitative analysis, three unique categories of fatal poisoning emerged: "intentional administration without documented benign intent", "intentional administration with benign intent", and "unclear administration". CONCLUSION: The high proportion of fatal poisonings in children attributed to opioids in this study suggests a need for universal dissemination and training of naloxone in households comprised of children living with parents experiencing, or in recovery for substance misuse. Findings also indicate a needed emphasis on safe storage practices and education to parents about the risk of prescription drug toxicity in children.

Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study.

PURPOSE: The purpose of this study was to assess decisions, attitudes, and understanding of participants (patients, parents, relatives) having genome sequencing for rare disease diagnosis. METHODS: This study involved a cross-sectional observational survey with participants in the 100,000 Genomes Project. RESULTS: Survey response rate was 51% (504/978). Most participants self-reported that they had decided to undergo genome sequencing (94%) and that this was an informed decision (84%) with low decisional conflict (95%). Most self-reported that they had chosen to receive additional findings (88%) and that this was an informed decision (89%) with low decisional conflict (95%). Participants were motivated more by the desire to help others via research than by the belief it would help them obtain a diagnosis (Z = 14.23, P = 5.75 × 10-46), although both motivations were high. Concerns were relatively few but, where expressed, were more about the potential psychological impact of results than data sharing/access (Z = 9.61, P = 7.65 × 10-22). Concerns were higher among male, Asian or Asian British, and more religious participants. General and context-specific understanding of genome sequencing were both moderately high (means 5.2/9.0 and 22.5/28.0, respectively). CONCLUSION: These findings are useful to inform consent guidelines and clinical implementation of genome sequencing.