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BMC Health Serv Res. 2017 Sep 26;17(1):682. doi: 10.1186/s12913-017-2625-1.

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

de Freitas C1,2,3,4, Dos Reis V5,6, Silva S7,8, Videira PA9,10, Morava E11,12, Jaeken J13,14.

Author information

EPIUnit - Instituto de Saúde Pública, Universidade do Porto, Porto, Portugal.
, Institutional address 1: Rua das Taipas 135, 4050-600, Porto, Portugal.
Centre for Research and Studies in Sociology - University Institute of Lisbon, Porto, Portugal.
, Institutional address 2: Avenida das Forças Armadas, 1649-026, Lisbon, Portugal.
Founder of the Portuguese Association for CDG (APCDG), Porto, Portugal.
, Institutional address: Rua Manuel da Fonseca 46, 2820-389, Almada, Portugal.
EPIUnit - Instituto de Saúde Pública, Universidade do Porto, Porto, Portugal.
, Institutional address 1: Rua das Taipas 135, 4050-600, Porto, Portugal.
Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Lisbon, Portugal.
Institutional address: Glycoimmunology group Lab 3.19 - Departamento Ciências da Vida (Ed Departamental), Faculdade de Ciências e Tecnologia, 2829-516, Caparica, Portugal.
School of Medicine, Tulane University, New Orleans, USA.
Institutional address: Hayward Genetics Center SL#31, Tulane University Medical School, 1430 Tulane Ave, New Orleans, LA, 70112, USA.
Department of Pediatrics, Center for Metabolic Disease, University Hospital Gasthuisberg, Leuven, Belgium.
, Institutional Address: Herestraat 49, 3000, Leuven, Belgium.



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.


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.


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.


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.


Congenital disorders of glycosylation; ELSI; Needs assessment; Patient-oriented research; People-centred care; Public and patient involvement; Rare diseases; Social innovations

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