Quality of life in rare genetic conditions: A systematic review of the literature
- 22 April 2010
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 152A (5), 1136-1156
- https://doi.org/10.1002/ajmg.a.33380
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. Published 2010 Wiley‐Liss, Inc.Keywords
This publication has 88 references indexed in Scilit:
- Health‐related quality of life measures in genetic disorders: An outcome variable for consideration in clinical trialsSeminars in Medical Genetics, Part C of the American Journal of Medical Genetics, 2009
- Impact of neurofibromatosis 1 upon quality of life in childhood: a cross-sectional study of 79 casesBritish Journal of Dermatology, 2009
- Adaptation to living with a genetic condition or risk: a mini‐reviewClinical Genetics, 2008
- Adults With X-Linked AgammaglobulinemiaMedicine, 2008
- Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)Health and Quality of Life Outcomes, 2008
- Living with muscular dystrophy: health related quality of life consequences for children and adultsHealth and Quality of Life Outcomes, 2007
- Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1The Journal of Pediatrics, 2006
- Quality-of-life in children and adolescents with cystic fibrosis managed in both regional outreach and cystic fibrosis center settings in queenslandThe Journal of Pediatrics, 2006
- The non-illness intervention model: Psychotherapy for physically ill patients and their familiesThe American Journal of Family Therapy, 1999
- The MOS 36-ltem Short-Form Health Survey (SF-36)Medical Care, 1992