Quality of life in rare genetic conditions: A systematic review of the literature

Abstract

Quality of life (QoL) refers to an individual's sense of overall well-being encompassing physical, psychological, emotional, social, and spiritual dimensions. Although genetics healthcare providers strive to promote patient well-being, and the term QoL is often invoked to refer to this outcome, there is lack of clarity as to what actually constitutes QoL from the patient's perspective. This systematic literature review aims to summarize and integrate research findings to help elucidate how healthcare providers can more effectively enhance the QoL of patients affected with rare genetic conditions. Eligible studies were those that measured QoL as a primary outcome variable using a validated, multi-dimensional scale. Detailed criteria were used to rate quality of design, methodology, and analytic rigor. Fifty-eight studies were selected for inclusion in the review, and a narrative synthesis of the data was performed. A central theme emerging from the literature is that, although genetic conditions have the potential to have significant negative consequences for individuals' lives, having a genetic condition does not necessarily entail poor QoL. Evidence demonstrates that factors beyond the physical manifestations of the disease, such as psychological well -being, coping, and illness perceptions, influence QoL and may serve as potent targets for intervention. The field of research on QoL in rare genetic conditions will be advanced by uniting around a clear conceptualization of QoL and using more rigorous methodology with comprehensive measures of global QoL.†

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“…Historically, research in rare diseases has focused on the pathogenesis and clinical manifestations [3]. In recent years, health-related quality of life (HRQoL) has increasingly been studied.…”

“…Different terminology is used to describe quality of life and widely varying evaluation tools are adopted [3]. This causes difficulty when reviewing the literature and comparing HRQoL of different disease groups.…”

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“…The contend analysis procedure was adopted as the set of research techniques, that aim to critically comprehend the direction of the communications and respective contents, manifested or latent, using different resources to reach encoded meanings, chosen, as Chizzotti remembers In fact, admitting the structure notes of a work of the area, lately republished in Portuguese in an European edition 28 , was used the methodological sequence understanding by the following successive phases: a) exploratory and immediate contact with each one of the shared texts; b) the second atentive and productive reading, to transcend the spontaneous and direct look, due to structure in self concepts; c) categorical apprehension of knowing/ acting of the literal understanding, seeking for the main idea of each segment under study, isolating it to the side of the others, due to compose a list of subjects or thus recovered items; d) execution of the analysis plan leading to a contend formulation of the revision 29 .…”