title: The emotional effects of genetic diseases: implications for clinical genetics.
abstract: The aim of this qualitative study was to explore the emotional effects that may be common to many genetic conditions, or risk of genetic conditions, that could be appropriately targeted by clinical genetics services. The study sample comprised 52 individuals. Seven focus groups with patients of clinical genetics services, their representatives from patient support organizations and genetics healthcare providers were conducted. Focus groups were supplemented by 19 face-to-face interviews with patients and patient group representatives. Focus groups and interviews were audio taped, transcribed in full, and analyzed using the constant comparative method. Eight emotional effects of genetic diseases were identified: anxiety, worry about risks to children, guilt, anger, uncertainty, sadness and grief, depression, and redemptive adjustment. Two factors were identified that could modify the emotional effects; these were variability of genetic diseases, and lack of diagnosis/inappropriate care. Despite many negative effects of genetic disease being identified, results also suggest that redemptive adjustment is possible where a genetic condition is present in a family. Interventions designed to (1) adjust the modifying conditions and (2) help manage the emotional effects may facilitate adjustment and improve patient outcomes.
authors.affiliation: Nowgen, The North West Genetics Knowledge Park, Manchester, UK. marion.mcallister@cmmc.nhs.uk
authors.forename: Marion
authors.initials: M
authors.lastname: McAllister
authors.forename: Linda
authors.initials: L
authors.lastname: Davies
authors.forename: Katherine
authors.initials: K
authors.lastname: Payne
authors.forename: Stuart
authors.initials: S
authors.lastname: Nicholls
authors.forename: Dian
authors.initials: D
authors.lastname: Donnai
authors.forename: Rhona
authors.initials: R
authors.lastname: MacLeod
mesh_terms: D000223:Adaptation, Psychological; D002648:Child; D003625:Data Collection; D004644:Emotions / Q000145:classification*; D017144:Focus Groups; D030342:Genetic Diseases, Inborn / Q000523:psychology*; D005826:Genetics, Medical / Q000379:methods*; D006801:Humans; D011787:Quality of Health Care