Social impact identified in and by the alpha-1 antitrypsin deficiency community

Abstract

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic cause for two common chronic conditions, emphysema and liver disease.  The social impact of living with this rare genetic disease has been incompletely defined. The paper describes thematic analysis of qualitative data. The goal of this project was to identify the social burdens of this rare genetic disease that occur independent of symptoms. Through two pilot studies, transcripts from focus groups and interviews with 42 patients and caregivers living with AATD were collected.  Nvivo10 software was used to synthesize qualitative and thematic overarching domains. Two domains with three respective subdomains each emerged:  Rarity and Genetic Etiology.  Combining these data with existing literature, a model was developed to explain the social impacts in this rare genetic disease. This model will inform the development of tools to measure and improve clinical practice and research for patients living with other rare inherited conditions.Domains of social burden associated with a genetic diagnosis inform healthcare providers of areas where best practices in clinical care, support and future research require future development.  In addition, domains support future development of psychometric instrumentation to measure the social burden of rare disease with a genetic etiology.