A Place for Genetic Uncertainty: Parents Valuing an Unknown in the Meaning of Disease

University of North Carolina, Chapel Hill, NC, USA.
Social Science & Medicine (Impact Factor: 2.89). 10/2007; 65(6):1082-93. DOI: 10.1016/j.socscimed.2007.04.034
Source: PubMed


Klinefelter, Turner, and fragile X syndromes are conditions defined by a genetic or chromosomal variant. The timing of diagnosis, tests employed, specialists involved, symptoms evident, and prognoses available vary considerably within and across these syndromes, but all three share in common a diagnosis verified through a molecular or cytogenetic test. The genetic or chromosomal variant identified designates a syndrome, even when symptoms associated with the particular syndrome are absent. This article analyzes interviews conducted with parents and grandparents of children with these syndromes from across the USA to explore how they interpret a confirmed genetic diagnosis that is associated with a range of possible symptoms that may never be exhibited. Parents' responses indicate that they see the genetic aspects of the syndrome as stable, permanent, and authoritative. But they allow, and even embrace, uncertainty about the condition by focusing on variation between diagnosed siblings, the individuality of their diagnosed child, his or her accomplishments, and other positive aspects that go beyond the genetic diagnosis. Some families counter the genetic diagnosis by arguing that in the absence of symptoms, the syndrome does not exist. They use their own expertise to question the perceived certainty of the genetic diagnosis and to employ the diagnosis strategically. These multiple and often conflicting evaluations of the diagnostic label reveal the rich ways families make meaning of the authority attributed to genetic diagnosis.


Available from: Arlene Davis, Apr 17, 2014
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    • "La troisième caractéristique est que face à des connaissances instables, l'information s'inscrit dans un processus dynamique non linéaire, voire réversible. En effet, l'ambiguïté du pronostic complexifie les messages à transmettre aux familles et complique l'information génétique et le conseil afférent que le médecin se doit de délivrer aux familles (Whitmarsh, and alii, 2007). Il en résulte une variété de réponses possibles pour la conduite des entretiens consécutifs à l'annonce d'un diagnostic confirmé (Dillard, Carson, 2005), ainsi que des embarras de contenu informatif et de procédé communicationnel pour le conseil génétique (Brookes-Howell, 2006). "
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    ABSTRACT: In France, the systematic neonatal screening for cystic fibrosis, a rare and incurable genetic disease, was instituted by the public authorities in 2002. Taking diagnosis disclosure as the departure point, our paper aims to reflect the singular and innovative configurations that have developed in the organisation of care (the creation of specific interdisciplinary care centres : Resource and Expertise Centres for Cystic Fibrosis), among professionals (concerning the roles and practices of doctors and nurses) and communication (dissemination of equivocal communication). The broader aim is to shed light on the transformations generated by this biomedical technology in a context marked by high risk medicine and the evolution of medical uncertainty, shared by all the actors concerned.
    04/2013; DOI:10.4000/communiquer.200
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    • "Risk analysis relies on techniques of classification, presenting possibly reductionist diagnostic categories which have the capacity to challenge and reconfigure existing boundaries between health and illness. Genetic diagnosis continues to involve complex levels of clinical decision making, even where a genetic mutation has been identified (Hedgecoe 2003; Miller et al. 2005; Whitmarsh et al. 2007). Mitochondrial disease as a highly complex disease classification falls into this category, where the presence of mutated mitochondria does not necessarily lead to a diagnosis of mitochondrial disease. "
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    ABSTRACT: Mitochondrial disease can be a devastating, degenerative illness, with limited treatment and no cure. Novel reproductive techniques involving mitochondria donation present an opportunity for women with mitochondrial disease to prevent the transmission of disease to her offspring. Current IVF techniques, such as pre-implantation genetic diagnosis, reduce but do not eliminate the risk for the child. However, knowledge of the contexts within which this disease is experienced and reproductive decisions are made is limited. This article draws on qualitative interviews with adult patients to explore the practical realities of living with mitochondrial disease. Three key themes were identified; the personal and familial experiences of illness, age and generation as factors in shaping patient experience and the importance of experiential knowledge in making sense of reproductive choice. Overall, this article identifies potential barriers to patients accessing reproductive technologies highlighting how the complex nature and uncertain trajectory of mitochondrial disease poses considerable challenges for patients, practitioners and policy makers.
    01/2013; 9(1). DOI:10.1186/2195-7819-9-2
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    • "Yet some qualitative studies have explored the ability of parents of children with disabilities to find benefits or opportunities when faced with lasting uncertainty [10] [11]. It is possible that, for example, a parent's level of hope for their child may play a role in how they appraise prognostic uncertainty as part of the adaptation process, but this has not been studied to date. "
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    ABSTRACT: The goal of this study was to investigate the relationships between perceived uncertainty, hope, and adaptation in caregivers of children with Down syndrome (DS). A total of 546 caregivers were recruited from local and national DS groups and from a DS clinic list. A cross-sectional survey examined caregivers' levels of perceived uncertainty, hope, and adaptation. The hope that caregivers had for their child was also measured. Uncertainty, hope and adaptation were all significantly correlated, with uncertainty and hope independently predicting caregiver adaptation. Caregivers' motivation to reach goals for their child was higher than their ability to think of ways to meet those goals, and their lessened ability to think of ways to reach goals was significantly related to decreased adaptation levels. Findings from this study suggest that having hope in the face of uncertainty is important in adaptation but that caregivers struggle with having hope related to thinking of ways to reach goals for their child. The results of this study indicate that perceived uncertainty and hope may be important targets for improving psychological well-being. Interventions that assist caregivers in setting and attaining appropriate goals may be of particular interest.
    Patient Education and Counseling 09/2011; 87(2):233-8. DOI:10.1016/j.pec.2011.08.015 · 2.20 Impact Factor
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