Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.

Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in phenotypic presentation between independent CNVs can be extensive and provides a motivation for shared approaches. This confluence at the level of clinical phenotype implies convergence in at least some aspects of the underlying genomic mechanisms. With this perspective, our Commission on Novel Technologies for Neurodevelopmental CNVs asserts that the time has arrived to approach neurodevelopmental-related CNVs/SVs as a class of disorders that can be identified, investigated, and treated on the basis of shared mechanisms and/or pathways (e.g., molecular, neurological, or developmental). To identify common etiologic mechanisms among uncommon neurodevelopmental-related disorders and to potentially identify common therapies, it is paramount for teams of scientists, clinicians, and patients to unite their efforts. We bring forward novel, collaborative, and integrative strategies to translational CNV/SV research that engages diverse stakeholders to help expedite therapeutic outcomes. We articulate a clear vision for piloted roadmap strategies to reduce patient/caregiver burden and redundancies, increase efficiency, avoid siloed data, and accelerate translational discovery across CNV/SV-based syndromes.

Meaningful Endpoints for Idiopathic Pulmonary Fibrosis (IPF) Clinical Trials: Emphasis on 'Feels, Functions, Survives'. Report of a Collaborative Discussion in a Symposium with Direct Engagement from Representatives of Patients, Investigators, the National Institutes of Health, a Patient Advocacy Organization, and a Regulatory Agency.

Background: Idiopathic pulmonary fibrosis (IPF) carries significant mortality and unpredictable progression, with limited therapeutic options. Designing trials with patient-meaningful endpoints, enhancing the reliability and interpretability of results, and streamlining the regulatory approval process are of critical importance to advancing clinical care in IPF. Methods: A landmark in-person symposium in June 2023 assembled 43 participants from the US and internationally, including patients with IPF, investigators, and regulatory representatives, to discuss the immediate future of IPF clinical trial endpoints. Patient advocates were central to discussions, which evaluated endpoints according to regulatory standards and the FDA's 'feels, functions, survives' criteria. Results: Three themes emerged: 1) consensus on endpoints mirroring the lived experiences of patients with IPF; 2) consideration of replacing forced vital capacity (FVC) as the primary endpoint, potentially by composite endpoints that include 'feels, functions, survives' measures or FVC as components; 3) support for simplified, user-friendly patient-reported outcomes (PROs) as either components of primary composite endpoints or key secondary endpoints, supplemented by functional tests as secondary endpoints and novel biomarkers as supportive measures (FDA Guidance for Industry (Multiple Endpoints in Clinical Trials) available at: https://www.fda.gov/media/162416/download). Conclusions: This report, detailing the proceedings of this pivotal symposium, suggests a potential turning point in designing future IPF clinical trials more attuned to outcomes meaningful to patients, and documents the collective agreement across multidisciplinary stakeholders on the importance of anchoring IPF trial endpoints on real patient experiences-namely, how they feel, function, and survive. There is considerable optimism that clinical care in IPF will progress through trials focused on patient-centric insights, ultimately guiding transformative treatment strategies to enhance patients' quality of life and survival.

Centering marginalized voices in advocacy for equitable policy change in kidney disease.

PURPOSE OF REVIEW: Inequities in kidney disease are a result of differences in healthcare access and inequitable structural policies that lead to downstream social challenges. An individual with kidney disease sits at the intersection of a variety of governmental and institutional policies that directly affect their access to kidney healthcare and different care delivery models. However, their voice in policy change is often neglected by stakeholders with more structural power. Marginalized individuals with kidney disease are disproportionately affected by kidney disease and inequitable policies can further these health disparities. The review aims to describe how marginalized individuals can be centered in research and lead in advocacy efforts to promote equitable policy change. RECENT FINDINGS: The marginalized patient voice is critical in advocacy to promote equitable policy change. We discuss examples illustrating research and advocacy methods which center and partner with marginalized communities to catalyze effective policy interventions. SUMMARY: Centralizing the patient voice when engaging in advocacy can identify and contextualize the effects of inequitable public policy and improve advocacy efforts.

Financial conflicts of interest among presenters, panellists and moderators at haematology and oncology FDA workshops.

OBJECTIVE: To assess the characteristics and financial conflicts of interest of presenters, panellists and moderators at haematology and oncology workshops held jointly with or hosted by the US FDA. SETTING: We included information on all publicly available haematology or oncology FDA workshop agendas held between 1 January 2018 and 31 December 2022. EXPOSURE: General and research payments reported on Open Payments, industry funding to patient advocacy organizations reported on their webpages or 990 tax forms and employment in both pharmaceutical and regulatory settings. RESULTS: Among physicians eligible for payments, 78% received at least one payment from the industry between 2017 and 2021. The mean general payment amount was $82,170 for all years ($16,434 per year) and the median was $14,906 for all years ($2981 per year). Sixty-nine per cent of patient advocacy speakers were representing organizations that received financial support from the pharmaceutical industry. Among those representing regulatory agencies or pharmaceutical companies, 16% had worked in both settings during their careers. CONCLUSIONS AND RELEVANCE: Our findings in this cross-sectional study show a majority of US-based physician presenters at haematology and oncology workshops held jointly with members of the US FDA have some financial conflict of interest with the pharmaceutical industry. These findings support the need for clear disclosures and suggest that a more balanced selection of presenters with fewer conflicts may help to limit bias in discussions between multiple stakeholders.

An Op-Ed Writing Curriculum for Medical Students to Engage in Advocacy Through Public Writing.

BACKGROUND: Op-ed writing can be a powerful and accessible advocacy tool for physicians, but training is lacking in undergraduate medical education. AIM: To train and engage first-year medical students in op-ed writing. SETTING: Midwestern research-intensive medical school. PARTICIPANTS: All students in a required first-year health policy course in 2021 and 2022. PROGRAM DESCRIPTION: For their health policy course's final assignment, students could opt to write an op-ed on a healthcare issue of their choice. All students received written instruction on op-ed writing. Additionally, they could access a seminar, coaching and editing by peers and faculty, and publication guidance. PROGRAM EVALUATION: Of 179 students over 2 years, 105 chose to write op-eds. Fifty-one attended the seminar, 35 attended peer coaching sessions, 33 accessed structured peer editing, and 23 received faculty assistance. Thirty-eight students submitted a total of 42 op-eds for publication. Twenty-two pieces were published in major outlets and 17 in the university's health policy review. Of the 22 in major outlets, 21 received editing from either peers or faculty. DISCUSSION: An op-ed writing curriculum can be integrated into an existing medical school health policy course, resulting in a high level of engagement and in published op-eds by medical students.

Setting the international research agenda for sarcomas with patients and carers: results of phase II of the Sarcoma Patient Advocacy Global Network (SPAGN) priority setting partnership.

BACKGROUND: Typically, researchers and clinicians determine the agenda in sarcoma research. However, patient involvement can have a meaningful impact on research. Therefore, the Patient-Powered Research Network (PPRN) of the Sarcoma Patient Advocacy Global Network (SPAGN) set up a Priority Setting Partnership (PSP). The primary objective of this partnership is to identify priorities for research and patient advocacy topics. METHODS: In the first phase of this PSP, including 264 sarcoma patients and carers from all over the world, 23 research topics regarding sarcomas and 15 patient advocacy topics were identified using an online survey. In the second phase, participants were asked to fill in a top five and a top three of research and patient advocacy topics, respectively. Additionally, sociodemographic characteristics and sarcoma characteristics were collected. Social media channels, local national patient advocacy groups and the SPAGN website were used to distribute the survey. RESULTS: In total, 671 patients (75%) and carers (25%) participated in this survey. The five highest ranked research topics were related to causes of sarcoma (43%), prognosis and risk of recurrence (40%), specific subtypes of sarcoma (33%), the role of immunotherapy, targeted therapy and combined therapy (30%), and hereditary aspects (30%). The three highest ranked patient advocacy topics were improving the diagnostic process of sarcoma (39%), access to tumor DNA analysis (37%) and establishing an international sarcoma registry (37%). CONCLUSIONS: This sarcoma PSP has identified priorities for research and patient advocacy, offering guidance for researchers, assisting funding agencies with assessing project relevance and empowering patient advocates to represent the needs of patients and carers.

Two decades of patient advocacy.

The European Federation of Neurological Associations (EFNA) brings together European umbrella organizations of pan-European neurological patient advocacy groups (www.efna.net) and strives to improve the quality of life of people living with neurological conditions and to work towards relieving the immense social and economic burden on patients, carers and society in general. This article provides an overview of EFNA's activities and achievements over the past two decades, the evolution of patient advocacy during those years, and the increased role and impact of the European patient voice in the neurological arena.

Characteristics of Received HIV Prevention Advocacy from Persons Living with HIV in Uganda, and Associations with HIV Testing and Condom Use Among Social Network Members.

Receiving peer advocacy has been shown to result in increased HIV protective behaviors, but little research has gone beyond assessment of the mere presence of advocacy to examine aspects of advocacy driving these effects. With baseline data from a controlled trial of an advocacy training intervention, we studied characteristics of HIV prevention advocacy received among 599 social network members of persons living with HIV in Uganda and the association of these characteristics with the social network members' recent HIV testing (past six months) and consistent condom use, as well as perceived influence of advocacy on these behaviors. Participants reported on receipt of advocacy specific to HIV testing and condom use, as well as on measures of advocacy content, tone of delivery, support for autonomous regulation, and perceived influence on behavior. Receiving HIV testing advocacy and condom use advocacy were associated with recent HIV testing [65.2% vs. 51.4%; OR (95% CI) = 1.77 (1.11-2.84)], and consistent condom use with main sex partner [19.3% vs. 10.0%; OR (95% CI) = 2.16 (1.12-4.13)], respectively, compared to not receiving advocacy. Among those who received condom advocacy, perceived influence of the advocacy was positively correlated with consistent condom use, regardless of type of sex partner; support of autonomous regulation was a correlate of consistent condom use with casual sex partners, while judgmental advocacy was a correlate of consistent condom use with serodiscordant main partners. Among those who received testing advocacy, HIV testing in the past 6 months was positively correlated with receipt of direct support for getting tested. In multiple regression analysis, perceived influence of both HIV testing and condom use advocacy were positively correlated with advocacy that included access information and support of autonomous regulation; confrontational advocacy and judgmental advocacy were independent positive correlates of perceived influence of testing and condom use advocacy, respectively. These findings support associations that suggest potential benefits of peer advocacy from PLWH on HIV testing and condom use among their social network members, and indicate that advocacy content, tone of delivery, and support of autonomous regulation advocacy may play an important role in the success of advocacy.

Concordance of HIV Prevention Advocacy Reports and its Associations with HIV Protective Behaviors.

Peer advocacy can promote HIV protective behaviors, but little is known about the concordance on prevention advocacy(PA) reports between people living with HIV(PLWH) and their social network members. We examined prevalence and correlates of such concordance, and its association with the targeted HIV protective behavior of the social network member. Data were analyzed from 193 PLWH(index participants) and their 599 social network members(alters). Kappa statistics measured concordance between index and alter reports of PA in the past 3 months. Logistic and multinomial regressions evaluated the relationship between advocacy concordance and alter condom use and HIV testing behavior and correlates of PA concordance. Advocacy concordance was observed in 0.3% of index-alter dyads for PrEP discussion, 9% for condom use, 18% for HIV testing, 26% for care engagement, and 49% for antiretroviral use discussions. Fewer indexes reported condom use(23.5% vs. 28.1%;[Formula: see text]=3.7, p=0.05) and HIV testing(30.5% vs. 50.5%; [Formula: see text]=25.3, p<0.001) PA occurring. Condom advocacy concordance was higher if the index and alter were romantic partners(OR=3.50; p=0.02), and lower if the index was 10 years younger than the alter(OR=0.23; p = 0.02). Alters had higher odds of using condoms with their main partner when both reported condom advocacy compared to dyads where neither reported advocacy(OR=3.90; p<0.001) and compared to dyads where only the index reported such advocacy(OR = 3.71; p=0.01). Age difference and relationship status impact advocacy agreement, and concordant perceptions of advocacy are linked to increased HIV protective behaviors. Alters' perceptions may be crucial for behavior change, informing strategies for improving advocacy.

Advocacy Connection Team-Now educational program for headache fellows and patients/caregivers: Assessment of educational objectives.

OBJECTIVE: To assess for improvement in comfort in participating in advocacy for migraine and headache disorders and knowledge needed for successful advocacy. BACKGROUND: The Advocacy Connection Team (ACT)-Now program is an educational program offered through Miles for Migraine, a non-profit advocacy organization. It is designed to teach headache fellows and patients advocacy skills. METHODS: In a cross-sectional pre-test-post-test design, the 2021 ACT-Now cohort of 98 participants were administered a set of 11 pre-course survey questions identifying their role (healthcare provider/headache fellow or patient/caregiver), baseline knowledge of migraine-related disability and stigma, and baseline engagement and comfort with advocating. The post-course survey questions were the same as the pre-course questions, with the addition of one question assessing knowledge of migraine-related disability, additional questions addressing comfort levels advocating with insurance and policymakers, as well as creating an advocacy plan. RESULTS: For the pre-course survey, 69 participants responded and for the post-course survey, 40 participants responded. Compared to the pre-course survey, participants were able to correctly identify epidemiological data about migraine following the ACT-Now course (pre-course 46% correct, post-course 58% correct, p = 0.263). There was also an increase in the comfort level of participants in advocacy activities, including the creation of an advocacy action plan (pre-course 23% were "very comfortable" advocating, post-course 63%, p < 0.05). CONCLUSION: These results demonstrate that ACT-Now is effective at improving advocacy skills in a mixed cohort of patients and headache fellows, giving them the skills to create advocacy plans and engage with other patients and physicians, payers, and policymakers to create a more understanding, equitable and compassionate world for persons with migraine and other headache diseases.

Advocacy in pediatric gastroenterology: An academic clinician's impact and guide.

The current state of policy-making necessitates clinicians and their organizations to be more engaged. This article provides practical examples of how to engage in various levels of advocacy within pediatric gastroenterology.

Identifying and addressing the needs of caregivers of patients with cancer: evidence on interventions and the role of patient advocacy groups.

As the number of people with cancer increases, so does the number of informal caregivers. These caregivers frequently have multiple unmet needs and experience numerous burdens. Here we explore the crucial roles of these caregivers and categorize their unmet needs into four areas: information, relationship and communication, emotional support, and practical or financial needs. We provide evidence on emerging interventions aimed at supporting caregivers, including patient/caregiver assessments, education, collaborative care, financial assistance, wellness, informational programs, and an integrated caregiver clinic. Finally, we delve into the vital role that patient advocacy groups play in addressing the unmet needs of cancer patients and their caregivers by providing comprehensive support, including education, resources, counseling, guidance, and financial aid.

As the number of people living with cancer increases, the number of informal caregivers is also increasing. Most often, these caregivers are family members, friends, or spouses of the person with cancer. Caregivers of patients with cancer help with medical tasks and routine chores, like driving, and even personal care, such as bathing. Caregiving can be challenging, emotionally taxing, and time-consuming, all while being unpaid. In this review, we identify four unmet needs of caregivers of patients with cancer and examine how they are being addressed. First, caregivers need cancer care information that is presented in an understandable way. This will help the caregiver and the patient make better decisions about cancer care and treatment. Second, caregivers need better relationships and communication with the patient's clinicians. In addition, caregivers must also navigate, and sometimes mend, challenging relationships with the patients that they care for. Third, caregivers need more emotional support, including the option for counseling and therapy. Fourth, caregivers may need practical and financial support, particularly since the time demands and stress of caregiving can disrupt their ability to earn a living. Although many attempts have been made to address these caregiver needs, gaps still remain. Increasing awareness of information targeting caregivers and patients could reduce their uncertainty and help with decision-making. Even when resources are available, caregivers may not always be aware of or linked to them. Patient advocacy groups play a critical role in connecting caregivers with available resources. They also provide a variety of support services, including education, navigation, and financial assistance.

The courage to advocate: How two professions approach public advocacy work.

BACKGROUND: While health advocacy is an established physician role, most of the educational attention to advocacy has been at the individual patient level. Public advocacy-efforts to effect change at the level of communities, populations or society-remains a poorly defined concept whose educational foundation is underdeveloped. To enrich our understanding of public advocacy, we explored how professionals in two disciplines-medicine and law-have approached its tasks and experienced its challenges. METHODS: Using constructivist grounded theory, we interviewed 18 professionals (nine physicians, eight lawyers and one qualified in both disciplines) who engage in public advocacy. We used constant comparison throughout an iterative process of data collection and analysis to develop an understanding of what it means to be a professional in the public domain. RESULTS: Public advocacy work occurs at the intersection of personal and professional identities. Lawyers perceived public advocacy as an embedded element of their professional identity, while physicians more often viewed it as outside their core professional scope. Nonetheless, professional identity influenced how both groups conducted their work. Physicians were more likely to draw on professional attitudes (e.g. their orientation towards evidence and their trusted social position), while lawyers were more likely to draw on professional skills (e.g. building an argument and litigating test cases). The work requires courage and often demands that individuals tolerate personal and professional risk. CONCLUSION: While medicine has enshrined advocacy in its competency frameworks, it is the legal profession whose practitioners more fully embrace advocacy as intrinsic to professional identity, suggesting that roles are difficult to engineer or impose. Collaboration across public-facing professions like medicine and law creates opportunities to reimagine public advocacy, to identify the skills required to do it well and to refresh educational strategies.

Reclaiming Agency in Care Decisions and Barriers From the Perspectives of Individuals With Acquired Brain Injury and Their Family Members.

BACKGROUND: The ability to self-advocate or have a say in one's care is integral to personalised care after acquired brain injury (ABI). This study aimed to understand what constitutes self-advocacy and associated barriers and facilitators throughout hospital transitions and into the community. METHOD: Qualitative methodology was employed with semistructured interviews conducted with 12 people with ABI and 13 family members. Interviews were conducted at predischarge (in-person or via telephone) and 4 months postdischarge (via telephone) from the brain injury rehabilitation unit of a tertiary hospital. Data were thematically analysed using a hybrid deductive-inductive approach. RESULTS: Self-advocacy reflects the process of reclaiming agency or people's efforts to exert influence over care decisions after ABI. Agency varies along a continuum, often beginning with impaired processing of the self or environment (loss of agency) before individuals start to understand and question their care (emerging agency) and ultimately plan and direct their ongoing and future care (striving for agency). This process may vary across individuals and contexts. Barriers to self-advocacy for individuals with ABI include neurocognitive deficits that limit capacity and desire for control over decisions, unfamiliar and highly structured environments and lack of family support. Facilitators include neurocognitive recovery, growing desire to self-advocate and scaffolded support from family and clinicians. CONCLUSION: Self-advocacy after ABI entails a process of reclaiming agency whereby individuals seek to understand, question and direct their ongoing care. This is facilitated by neurocognitive recovery, growing capacity and desire and scaffolded supports. Research evaluating approaches for embedding self-advocacy skills early in brain injury rehabilitation is recommended. PATIENT OR PUBLIC CONTRIBUTION: Two caregivers with lived experience of supporting a family member with ABI were involved in the design and conduct of this study and contributed to and provided feedback on the manuscript.

Utilizing a patient advocacy-led clinical network to engage diverse, community-based sites in implementation-effectiveness research.

BACKGROUND: Increased engagement with community-based practices is a promising strategy for increasing clinical trials access of diverse patient populations. In this study we assessed the ability to utilize a patient-advocacy organization led clinical network to engage diverse practices as field sites for clinical research. METHODS: GO2 for Lung Cancer led recruitment efforts of 17 field sites from their Centers of Excellence in Lung Cancer Screening Network for participation in an implementation-effectiveness trial focused on smoking cessation integration into screening programs for lung cancer. Sites were engaged by one of three methods: 1) Pre-Grant submission of letters of support, 2) a non-targeted study information dissemination campaign to network members, and 3) proactive, targeted outreach to specific centers informed by previously submitted network member data. Detailed self-reported information on barriers to participation was collected from centers that declined to join the study. RESULTS: Of 17 total field sites, 16 were recruited via the targeted outreach campaign and 1 via pre-grant letter of support submission. The sites covered 13 states and 4 United States geographic regions, were varied in annual screening volumes and years of screening program experience and were predominantly community-based practices (10 of 17 sites). The most reported reason (by 33% of sites) for declining to participate as a field site was inadequate staffing bandwidth for trial activities. This was especially true in community-based programs among which it was reported by 45% as a reason for declining. CONCLUSIONS: Our results suggest that this model of field site recruitment leveraging an existing partnership between an academic research team and an informal clinical network maintained by a disease-specific patient advocacy organization can result in engagement of diverse, community-based field sites. Additionally, reported barriers to participation by sites indicate that solutions centered around providing additional resources to enable greater capacity for site staff may increase community-practice participation in research.

Engaging healthcare professionals and patient representatives in the development of a quality model for hospitals: a mixed-method study.

Top-down and externally imposed quality requirements can lead to improvement but do not seem as sustainable as intended. There is a need for a quality model that intrinsically motivates healthcare professionals to contribute to quality and safe care in hospitals. This study shows how a quality model that matches the identity and the quality vision of the organization was developed. A multimethod design with three phases was used in the development of the model at a large teaching hospital in Belgium. In the first phase, 14 focus groups and 19 interviews with staff members were conducted to obtain an overview of the quality and safety challenges, complemented by a plenary discussion with the members of the patient advisory council. In the second phase, the challenges that had been captured were further assessed using a hospital-wide survey for all hospital staff. Finally, a newly established quality review board (with internal and external stakeholders) critically evaluated the input of Phases 1 and 2 and defined the basic quality standards to be implemented in the hospital. A first evaluation 2 years after the implementation was conducted based on (i) patients' perceptions of quality of care and patient safety by publicly available indicators collected in 2016, 2019, and 2022 and (ii) staff experiences and perceptions regarding the acceptability of the new model gathered through (grouped) interviews and an open questionnaire. The quality model consists of eight broad themes, including norms for the hospital staff (n = 27), sustained with quality systems (n = 8), and organizational support (n = 6), with aid from adequate management and leadership (n = 6). The themes were converted into 46 standards. These should be supported within a safe, efficient, and caring work environment. The new model was launched in the hospital in June 2021. The evaluation shows a significant difference in quality and safety on different dimensions as perceived by hospitalized patients. The perceived added value of the participatory model is a better fit with the needs of employees and the fact that the model can be adjusted to the specific context of the different hospital departments. The lack of hard indicators is seen as a challenge in monitoring quality and safety. The participation of various stakeholders inside and outside the organization in defining the quality challenges resulted in the creation of a participatory quality model for the hospital, which leads towards a better-supported quality policy in the hospital.

Advocacy in gender affirming care.

Healthcare advocacy is the duty and privilege of all healthcare providers, but especially for those who care for children. Intersex and gender diverse youth face significant barriers across many aspects of life, with access to competent gender affirming healthcare chief among them. Understanding the importance of both institutional and individual efforts in healthcare advocacy is paramount to improving healthcare access and outcomes for this population.

Narrative or Facts: Two Paths to Vaccine Advocacy.

The current study investigated the effectiveness of factual and narrative messages in promoting advocacy intentions among viewers of COVID-19 vaccination messaging. In an online posttest only experiment on Qualtrics online software, participants (N = 323) were randomly assigned to one of four conditions related to type of messaging (i.e. factual, narrative, both, control). The final model revealed that both types of messages work in generating advocacy but through two distinct influential pathways. Moreover, a message containing both facts and a narrative proved to be more effective than a message containing only a narrative or only facts.