Performing publics of science in the COVID-19 pandemic: A qualitative study in Austria, Bolivia, Germany, Italy, Mexico, and Portugal.

Research about science and publics in the COVID-19 pandemic often focuses on public trust and on identifying and correcting public attitudes. Drawing on qualitative interviews with 209 residents in six countries-Austria, Bolivia, Germany, Italy, Mexico, and Portugal-this article uses the concept of performativity to explore how participants understand, and relate to science, in the COVID-19 context. By performativity, we mean the ways by which participants understand themselves as particular sorts of publics through identification with, and differentiation from, various other actors in matters that are perceived as controversies surrounding science: COVID-19 vaccination, media communication of science, and the interactions between governments and scientists. The criteria used to construct the similarities and differences among publics were heterogeneous and fluid, showing how epistemic beliefs about the nature of, and trust in, scientific knowledge are intermingled with social and cultural memberships embedded in specific contexts and across disparate places.

Nationwide consensus on quality indicators to assess glaucoma care: A modified Delphi approach.

PURPOSE: Performance assessments are essential to tracking and improving quality in health care systems. Key aspects of the care process that act as indicators must be measured in order to gain an in-depth understanding of a care unit's operation. Without standardized quality indicators (QIs), it is difficult to characterize and compare the abilities of institutions to achieve excellence. The aim of this study is to reach a consensus among glaucoma specialists concerning the development of a set of QIs to assess the performance of glaucoma care units. METHODS: A two-round Delphi technique was performed among glaucoma specialists in Portugal, using a 7-point Likert scale. Fifty-three initial statements (comprising process, structure, and outcome indicators) were evaluated and participants had to agree on which ones would be part of the final set of QIs. RESULTS: By the end of both rounds, 28 glaucoma specialists reached consensus on 30/53 (57%) statements, including 19 (63%) process indicators (mainly relating to the proper implementation of complementary exams and the setting of follow-up intervals), 6 (20%) structure indicators, and 5 (17%) outcome indicators. Of the indicators that were part of the final list, functional and structural aspects of glaucoma progression and the availability of surgical/laser procedures were the most prevalent. CONCLUSIONS: A set of 30 QIs for measuring the performance of glaucoma units was developed using a consensus methodology involving experts in the field. Their use as measurement standards would provide important information about unit operations and allow further implementation of quality improvements.

A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases.

At least 50% of chronic disease patients don't follow their care plans, leading to lower health outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to individuals living with a disease can help to overcome these problems. PEMs are especially beneficial for people suffering from multisystemic and underrecognized diseases, such as rare diseases. Congenital disorders of glycosylation (CDG) are ultra-rare diseases, where a need was identified for PEMs in plain language that can clearly explain complex information. Community involvement in the design of PEMs is extremely important for diseases whose needs are underserved, such as rare diseases; however, attempts to involve lay and professional stakeholders are lacking. This paper presents a community-based participatory framework to co-create PEMs for CDG, that is transferable to other diseases. A literature review and questionnaire were performed, and only four articles describing the development of PEMS for rare diseases have been found, which demonstrates a lack of standardized approaches. The framework and PEMs were co-developed with CDG families and will be crucial in increasing health literacy and empowering families. We will close a gap in the creation of PEMs for CDG by delivering these resources in lay language in several languages.

Donor-centred care: the facilitating and constraining factors experienced by gamete donors in a public bank.

The provision of care that is responsive to the preferences, needs and values of gamete donors is key to improving their recruitment and ensuring the functioning of gamete banks. This qualitative study aimed to explore gamete donors' experiences about the facilitating and constraining human and system factors to donor-centred healthcare delivery in gamete banks. It is based on 20 semi-structured interviews with oocyte and sperm donors, recruited at the Portuguese Public Bank of Gametes, conducted from November 2017 to February 2019. Deductive content analysis was performed using the software NVivo12, following the patient-centred infertility care model. Interviewees identified facilitating factors mostly related with the human dimension of care (i.e. careful and available attitude and behaviours of health professionals, as well as their good communication skills and emotional support). Constraining factors were predominantly identified at the system level (i.e. insufficient information provision, poor coordination, and integration). Lack of privacy emerged simultaneously as a human and a system constraining factor (i.e. physical discomfort during medical-technical acts or gamete collection). There is room for improving clinical practice and the organisation of healthcare services within a context where the competence and attitude of, and relationship with, the staff are highly valued.

Gamete and embryo donation for research: what might shape the willingness to donate among gamete donors and recipients?

PURPOSE: Research using gametes and embryos donated by reproductive and third-party donors contributed to substantial, albeit contentious achievements. The views of gamete donors and recipients on donation for research and the underpinning role of attitudes towards research have been seldom explored and are yet to be incorporated into ethical, legal, and regulatory landscapes. From a cultural standpoint, this study adapts and explores psychometric properties of the Portuguese version of the Research Attitudes Questionnaire (RAQ), and analyzes the willingness of gamete donors and recipients to donate gametes and embryos for research and its association with sociodemographic, reproductive characteristics, and attitudes towards research. METHODS: Between July 2017 and June 2018, 71 donors and 165 recipients completed a self-administered questionnaire at the Portuguese Public Bank of Gametes. Willingness to donate and attitudes towards research were measured with a 5-point Likert scale. RAQ psychometric characteristics were explored. RESULTS: Two RAQ components were identified: "trustworthiness of research" and "critical perspective". Most participants were willing to donate gametes and embryos: donors more willing to donate gametes and male recipients more willing to donate gametes and embryos. Higher RAQ scores, indicating a more positive attitude towards research, were observed on the component "trustworthiness of research" among those willing to donate gametes and embryos and on the component "critical perspective" among those willing to donate embryos. CONCLUSION: These findings help foster inclusivity, diversity, and responsiveness of research and call for upstream engagement of male and female gamete donors and recipients, promoting a trustworthy, anticipatory, democratic, and people-centered approach to policies, regulations, and practices in human gamete and embryo research.

The Influence of Human-Milk Substitutes Marketing on Breastfeeding Intention and Practice among Native and Immigrant Brazilians.

BACKGROUND: The International Code of Marketing of Breast-Milk Substitutes is a global public health policy aiming to protect breastfeeding from the influence of human-milk substitutes marketing. Brazil is one of the few countries substantially implementing it. Most countries adopted selected provisions, including Portugal. RESEARCH AIM: To explore whether Brazilians' perspectives about breastfeeding intention and practice are influenced by human-milk substitutes marketing upon migration to Portugal. METHODS: A qualitative, prospective, cross-sectional survey design was conducted in Brazil and Portugal (2018-2019). Qualitative semi-structured interviews were performed with native (n = 16) and immigrant (n = 15) Brazilians. Women aged 18 or above, mothers of 0-12 month infants, and without contraindications to breastfeed, were eligible for the study. Heterogeneity sampling was employed based on socioeconomic status and infants' age. Content analysis was conducted using NVivo. RESULTS: Brazilian immigrants were more aware of the potential negative influence of human-milk substitutes marketing than natives. Sociocultural factors contributed to Brazilian immigrants being less permeable to the influence of human-milk substitutes marketing in the host country, where a less protective breastfeeding environment was perceived. CONCLUSIONS: Sociocultural factors including breastfeeding promotion strategies and a strong breastfeeding culture in the home country appear to play a protective role on breastfeeding intention and practice among Brazilians migrating to Portugal.

Benefits and Risks of Sharing Genomic Data for Research: Comparing the Views of Rare Disease Patients, Informal Carers and Healthcare Professionals.

Assessing public and patients' expectations and concerns about genomic data sharing is essential to promote adequate data governance and engagement in rare diseases genomics research. This cross-sectional study compared the views of 159 rare disease patients, 478 informal carers and 63 healthcare professionals in Northern Portugal about the benefits and risks of sharing genomic data for research, and its associated factors. The three participant groups expressed significantly different views. The majority of patients (84.3%) and informal carers (87.4%) selected the discovery of a cure for untreatable diseases as the most important benefit. In contrast, most healthcare professionals revealed a preference for the development of new drugs and treatments (71.4%), which was the second most selected benefit by carers (48.3%), especially by the more educated (OR (95% CI): 1.58 (1.07-2.34)). Lack of security and control over information access and the extraction of information exceeding research objectives were the two most often selected risks by patients (72.6% and 50.3%, respectively) and carers (60.0% and 60.6%, respectively). Conversely, professionals were concerned with genomic data being used to discriminate citizens (68.3%), followed by the extraction of information exceeding research objectives (54.0%). The latter risk was more frequently expressed by more educated carers (OR (95% CI): 1.60 (1.06-2.41)) and less by those with blue-collar (OR (95% CI): 0.44 (0.25-0.77) and other occupations (OR (95% CI): 0.44 (0.26-0.74)). Developing communication strategies and consent approaches tailored to participants' expectations and needs can benefit the inclusiveness of genomics research that is key for patient-centred care.

A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation.

Congenital Disorders of Glycosylation (CDG) are a large family of rare genetic diseases for which effective therapies are almost nonexistent. To better understand the reasons behind this, to analyze ongoing therapy research and development (R&D) for CDG, and to provide future guidance, a community-led mixed methods approach was organized during the 4th World Conference on CDG for Families and Professionals. In the quantitative phase, electronic surveys pointed to the prioritization of six therapeutic R&D tools, namely biobanks, registries, biomarkers, disease models, natural history studies, and clinical trials. Subsequently, in the qualitative phase, the challenges and solutions associated with these research tools were explored through community-driven think tanks. The multiple challenges and solutions identified administrative/regulatory, communication, financial, technical, and biological issues, which are directly related to three fundamental aspects of therapy R&D, namely data, sample, and patient management. An interdependence was traced between the prioritized tools, with diagnosis and therapies acting as bidirectional triggers that fuel these interrelationships. In conclusion, this study's pioneering and adaptable community-led methodology identified several CDG therapy R&D gaps, many common to other rare diseases, without easy solutions. However, the strong proactive attitude towards research, based on inclusive and international partnerships and involving all members of the CDG community, sets the direction for better future therapy R&D.

Public Views About Involvement in Decision-Making on Health Data Sharing, Access, Use and Reuse: The Importance of Trust in Science and Other Institutions.

Background: Data-intensive and needs-driven research can deliver substantial health benefits. However, concerns with privacy loss, undisclosed surveillance, and discrimination are on the rise due to mounting data breaches. This can undermine the trustworthiness of data processing institutions and reduce people's willingness to share their data. Involving the public in health data governance can help to address this problem by imbuing data processing frameworks with societal values. This study assesses public views about involvement in individual-level decisions concerned with health data and their association with trust in science and other institutions. Methods: Cross-sectional study with 162 patients and 489 informal carers followed at two reference centers for rare diseases in an academic hospital in Portugal (June 2019-March 2020). Participants rated the importance of involvement in decision-making concerning health data sharing, access, use, and reuse from "not important" to "very important". Its association with sociodemographic characteristics, interpersonal trust, trust in national and international institutions, and the importance of trust in research teams and host institutions was tested. Results: Most participants perceived involvement in decision-making about data sharing (85.1%), access (87.1%), use (85%) and reuse (79.9%) to be important or very important. Participants who ascribed a high degree of importance to trust in research host institutions were significantly more likely to value involvement in such decisions. A similar position was expressed by participants who valued trust in research teams for data sharing, access, and use. Participants with low levels of trust in national and international institutions and with lower levels of education attributed less importance to being involved in decisions about data use. Conclusion: The high value attributed by participants to involvement in individual-level data governance stresses the need to broaden opportunities for public participation in health data decision-making, namely by introducing a meta consent approach. The important role played by trust in science and in other institutions in shaping participants' views about involvement highlights the relevance of pairing such a meta consent approach with the provision of transparent information about the implications of data sharing, the resources needed to make informed choices and the development of harm mitigation tools and redress.

Concerns and coping mechanisms during the first national COVID-19 lockdown: an online prospective study in Portugal.

OBJECTIVES: The aim of this study was to explore concerns and coping mechanisms during the first national COVID-19 lockdown in Portugal. The general population provided statements via an open comment box as part of an online prospective study. STUDY DESIGN: This was an Internet-based open cohort study. METHODS: Individuals aged ≥16 years were eligible to participate in this study. Inductive content analysis was performed on completed questionnaires submitted between 23 and 29 March 2020 and 27 April and 3 May 2020 (corresponding with the early and late phases of the first national lockdown, respectively). RESULTS: Data suggest the prominence of behavioural and emotional responses to COVID-19; namely, self-compliance with measures promoted by the government; adopting practices of self-care and supporting/protecting others; and enacting hope (both currently and for the future). Concerns were related to the perception of vulnerabilities for oneself, family and others and to challenging situations presenting in society (e.g. physical and mental health, academic/professional careers, income, social inequality, potential discrimination and stigmatisation, inconsistent information and negative approach to the news), coupled with criticism, scepticism or doubts about government policy and performance of the healthcare system. Expressions of fear and worry and non-compliance with mitigation measures by others (e.g. close relatives, employees and general population) emerged as additional concerns. CONCLUSIONS: Continuous assessment of behavioural and emotional responses to the COVID-19 pandemic is needed to support effective communication and public health policies that are sensitive to the concerns, motivations and expectations of the population. Awareness of changing public opinions enables governments to continue to effectively mobilise the population to take recommended actions to reduce the transmission of COVID-19.

Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries.

PURPOSE: The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally. METHODS: We analyzed the "Your DNA, Your Say" online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle-, and high-income countries, and these were gathered in 15 languages. We analyzed how participants responded when asked whether return of results (RoR) would motivate their decision to donate DNA or health data. We examined variation across the study countries and compared the responses of participants from other countries with those from the United States, which has been the subject of the majority of research on return of genomic results to date. RESULTS: There was substantial variation in the extent to which respondents reported being influenced by RoR. However, only respondents from Russia were more influenced than those from the United States, and respondents from 20 countries had lower odds of being partially or wholly influenced than those from the United States. CONCLUSION: There is substantial international variation in the extent to which the RoR may motivate people's intent to donate DNA or health data. The United States may not be a clear indicator of global attitudes. Participants' preferences for return of genomic results globally should be considered.

Medical ethics when moving towards non-anonymous gamete donation: the views of donors and recipients.

Drawing on the views of donors and recipients about anonymity in a country that is experiencing a transition towards non-anonymous gamete donation mandated by the Constitutional Court, we explore how the intersection between rights-based approaches and an empirical framework enhances recommendations for ethical policy and healthcare. Between July 2017 and April 2018, 69 donors and 147 recipients, recruited at the Portuguese Public Bank of Gametes, participated in this cross-sectional study. Position towards anonymity was assessed through an open-ended question in a self-report questionnaire, which was subject to content analysis. Preference for an anonymous donation regime was mentioned by 82.6% of donors and 89.8% of recipients; and all those with children. Instead of the rights-based reasoning used by the Constitutional Court, donors highlighted concerns over future relationships and recipients focused on socioethical values linked with the safeguard of safety, privacy and confidentiality. The remaining participants advocated the choice between anonymity or non-anonymity (double-track policy), invoking respect for their autonomy. The complex, diverse ethical views and reasoning of donors and recipients expand a traditionally dichotomous discussion. Their perspectives challenge the transition towards non-anonymity and international guidelines, raising awareness to the need for their involvement in the design of policies to enable choice according to their values and preferences, and of psychosocial counselling responsive to their socioethical concerns and sensitive to their parental status. Empirical frameworks complement rights-based approaches to uphold justice, fairness and equal respect, and to incorporate utility, beneficence and non-maleficence in policymaking and healthcare in the transition towards non-anonymity.

Migrants' involvement in health policy, service development and research in the WHO European Region: A narrative review of policy and practice.

OBJECTIVES: The involvement of individuals and communities in health decision-making is enshrined in WHO policies. However, migrant groups are under-represented in health decision-making processes. Our aim was to explore migrants' involvement in health policy, service development and research in the WHO European Region to identify levers for inclusive and meaningful practice. METHODS: We conducted a narrative review of grey literature and peer-reviewed research on migrants' involvement in health decision-making across the 53 countries in WHO Europe. We searched for articles published in English between 2010 and the present in two electronic databases (PubMed, Scopus), IOM MIPEX Health Strand country reports, the EU SOPHIE project and using a Google advanced search. Findings were analysed descriptively and using Normalisation Process Theory to investigate levers and barriers to implementation of policy into practice. RESULTS: Of 1,444 articles retrieved, 79 met the inclusion criteria. We identified 20 policies promoting migrants' involvement, but national-level policies were present in only two countries. We identified 59 examples of migrants' involvement in practice from half of the WHO Europe countries (n = 27). Our Normalisation Process Theory (NPT) analysis of 14 peer-reviewed empirical papers found that participatory research approaches are a lever to putting policy into practice in a meaningful way. CONCLUSIONS: Migrants' involvement in health decision-making requires explicit national policies that are implemented evenly across policymaking, service provider and research activities in all countries in the WHO European Region. Participatory approaches to involvement activities are encouraged because they are a lever to perceived barriers to migrants' involvement.

The Impact of Formula Industry Marketing on Breastfeeding Rates in Native and Migrant Mothers.

Introduction: Lifelong benefits of breastfeeding are far-reaching. However, optimal breastfeeding practices may be negatively affected by the marketing of different forms of breast milk substitutes. In addition, whether market factors have a different impact on migrants' breastfeeding practices when compared to natives has been poorly investigated. Objectives: Our study's aims are (1) to assess the effect of market factors on breastfeeding discontinuation (any and exclusive), (2) comparing migrant and native women. Methods: A longitudinal study was conducted within baMBINO, a nationwide project on perinatal health among migrant women in Portugal. Our final sample included 1,251 migrants and 1,150 natives recruited between April 2017 and March 2019 in 32 public maternities. Cox regression analysis was performed, adjusting for important confounders, and interactions were tested. Results: Market factors were associated with any and exclusive breastfeeding discontinuation. Participants receiving free formula samples from a health professional were more likely to stop exclusive breastfeeding (adjusted hazard ratios [aHR] = 1.37, 95% confidence intervals [95% CI] = 1.13-1.66, p = 0.002). Reporting exposure to formula discounts was associated with discontinuation of exclusive (aHR = 1.22, 95% CI = 1.09-1.38, p = 0.001) and any breastfeeding (aHR = 1.21, 95% CI = 1.00-1.46, p = 0.046). No interactions were found between being migrant and exposure to market factors. Conclusions: Market factors influence discontinuation of any and exclusive breastfeeding. The impact of marketing does not differ between native and migrant women.

Public and patient involvement in health data governance (DATAGov): protocol of a people-centred, mixed-methods study on data use and sharing for rare diseases care and research.

INTRODUCTION: International policy imperatives for the public and patient involvement in the governance of health data coexist with conflicting cross-border policies on data sharing. This can challenge the planning and implementation of participatory data governance in healthcare services locally. Engaging with local stakeholders and understanding how their needs, values and preferences for governing health data can be articulated with policies made at the supranational level is crucial. This paper describes a protocol for a project that aims to coproduce a people-centred model for involving patients and the public in decision-making processes about the use and sharing of health data for rare diseases care and research. METHODS AND ANALYSIS: This multidisciplinary project draws on an explanatory sequential mixed-methods study. A hospital-based survey with patients, informal carers, health professionals and technical staff recruited at two reference centres for rare diseases in Portugal will be conducted first. The qualitative study will follow consisting of semi-structured interviews and scenario-based workshops with a subsample of the participant groups recruited at baseline. Quantitative data will be analysed using descriptive and inferential statistics. Inductive and deductive approaches will be combined to analyse the qualitative interviews. Data from scenario-based workshops will be iteratively compared using the constant comparison method to identify cross-cutting themes and categories. ETHICS AND DISSEMINATION: The Ethics Committee for Health from the University Hospital Centre São João/Faculty of Medicine of University of Porto approved the study protocol (Ref. 99/19). Research findings will be disseminated at academic conferences and science promotion events, and through public meetings involving patient representatives, practitioners, policy-makers and students, a project website and peer-reviewed journal publications.

Maternal Country of Birth and Exclusive Breastfeeding During the First In-Hospital Day in Portugal: The Influence of the Baby-Friendly Hospital Initiative.

BACKGROUND: Early breastfeeding practices are important determinants of later breastfeeding behaviors and can be influenced by multiple factors. Despite the Baby-Friendly Hospital Initiative reported positive influence on breastfeeding initiation, its influence on the association between maternal country of birth and first day in-hospital breastfeeding has not been examined. RESEARCH AIMS: To determine (1) if association between maternal country of birth and first day in-hospital exclusive breastfeeding exists in Portugal and (2) if any association is affected by giving birth in a Baby-Friendly Hospital. METHODS: Data were drawn from baMBINO-a longitudinal, 2017-2019 nationwide study designed to assess the perinatal health and healthcare experiences of migrant and native Portuguese women. Data from participants (N = 5,340) were collected during their hospital stay from 32 maternity units. Missing data were handled through multiple imputation. After stratifying by Baby-Friendly Hospital Initiative accreditation, a multivariate logistic regression was performed. RESULTS: First day in-hospital exclusive breastfeeding rates were high among both migrant and native participants (89.2% vs. 87.4%). Migrants were more likely to exclusively breastfeed when compared to natives (OR = 1.19, 95% CI [1.00, 1.41]). In non-Baby-Friendly Hospitals, a positive association was found between participants from Eastern European countries (aOR = 2.46, 95% CI [1.27, 4.78]) and first day in-hospital exclusive breastfeeding. In accredited hospitals, maternal country of birth did not influence exclusive breastfeeding during the first 24 hr. CONCLUSIONS: The Baby-Friendly Hospital Initiative attenuates differences between migrant and native participants, promoting optimal breastfeeding practices among natives.

Involvement in maternal care by migrants and ethnic minorities: a narrative review.

BACKGROUND: Guidelines for improving the quality of maternal health services emphasise women's involvement in care. However, evidence about migrant and ethnic minorities' preferences for participation in maternal care remains unsystematised. Understanding these populations' experiences with and preferred forms of involvement in care provision is crucial for imbuing policies and guidelines with sensitivity to diversity and for implementing people-centred care. This paper presents a narrative synthesis of empirical studies of involvement in maternal health care by migrants and ethnic minorities based on four key dimensions: information, communication, expression of preferences and decision-making. METHODS: Studies indexed in PubMed and Scopus published until December 2019 were searched. Original quantitative, qualitative and mixed methods studies written in English and reporting on migrant and ethnic minority involvement in maternal care were included. Backward reference tracking was carried out. Three researchers conducted full-text review of selected publications. RESULTS: In total, 22 studies met the inclusion criteria. The majority of studies were comparative and addressed only one or two dimensions of involvement, with an emphasis on the information and communication dimensions. Compared to natives, migrants and ethnic minorities were more likely to (1) lack access to adequate information as a result of health care staff's limited time, knowledge and misconceptions about women's needs and preferences; (2) report suboptimal communication with care staff caused by language barriers and inadequate interpreting services; (3) be offered fewer opportunities to express preferences and to have preferences be taken less into account; and (4) be less involved in decisions about their care due to difficulties in understanding information, socio-cultural beliefs and previous experiences with care provision less attuned with playing an active role in decision-making and care staff detracting attitudes. CONCLUSION: Constraints to adequate and inclusive involvement in maternal care can hinder access to quality care and result in severe negative health outcomes for migrant and ethnic minority women. More research is needed into how to tailor the dimensions of involvement to migrant and ethnic minorities' needs and preferences, followed by provision of the resources necessary for effective implementation (e.g. sufficient time for consultations, optimal interpreter systems, health care staff training).

Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation.

BACKGROUND: Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases. Innovations devised collectively by patients, caregivers, professionals and other members of the public can foster transformative change toward more responsive services and research. However, attempts to involve lay and professional stakeholders in devising community-framed strategies to address the unmet needs of rare diseases are lacking. In this study, we engaged with the community of Congenital Disorders of Glycosylation (CDG) to assess its needs and elicit social innovations to promote people-centred care and research. METHODS: Drawing on a qualitative study, we conducted three think tanks in France with a total of 48 participants, including patients/family members (n = 18), health care professionals (n = 7), researchers (n = 7) and people combining several of these roles (n = 16). Participants came from 20 countries across five continents. They were selected from the registry of the Second World Conference on CDG through heterogeneity and simple random sampling. Inductive and deductive approaches were employed to conduct interpretational analysis using open, axial and selective coding, and the constant-comparison method to facilitate the emergence of categories and core themes. RESULTS: The CDG community has unmet needs for information, quality health care, psychosocial support and representation in decision-making concerned with care and research. According to participants, these needs can be addressed through a range of social innovations, including peer-support communities, web-based information resources and a CDG expertise platform. CONCLUSION: This is one of the few studies to engage lay and professional experts in needs assessment and innovation for CDG at a global level. Implementing the innovations proposed by the CDG community is likely to have ethical, legal and social implications associated with the potential donation of patients' clinical and biological material that need to be assessed and regulated with involvement from all stakeholders. To promote people-centred care for the CDG community, and increase its participation in the governance of care and research, it is necessary to create participatory spaces in which the views of people affected by CDG can be fully expressed.