The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study

Eur J Med Genet. 2022 Aug 30;65(11):104604. doi: 10.1016/j.ejmg.2022.104604. Online ahead of print.


The management of patients with rare diseases (RD) presents many challenges including diagnosis, coordination of care, and orientation in the health system. For these patients, the general practitioner (GP) is not always the referring physician. The aim of this study was to determine the place of the GP in management of patients with RD. We used a qualitative study by case-study. From March to October 2020, semi-structured interviews were conducted by telephone with the families of adult patients with RD and intellectual disability, and with the health professionals involved in their management. Patients were recruited through RD reference centres, patient associations or GPs. The interviews were transcribed and analysed by two independent investigators. A grounded theory-based analysis was performed. Eight case studies were conducted with 20 participants. Our results highlighted the trajectory of the patients through the development of the career of the primary informal caregiver. The caregivers developed skills required for the management of the care recipient. Within this trajectory, the GP found his place depended on the skills he could provide, their interest in the disease, the skills developed by the caregiver, and the caregiver/care recipient needs. The GP was mostly consulted for routine care and administrative procedures, but when a trusting relationship was established, they also accompanied the patient and their family by providing appropriate medical, social or psychological support. The GP will be all the more a privileged actor in the care process that he will be involved in the coordination of all other actors, professional as non-professionals.

Keywords: Caregivers; General practice; Intellectual disability; Patient care management; Primary health care; Rare diseases; Sociology.