The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative
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ORIGINAL ARTICLE
The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study Lynley J. Donoghue & Margaret A. Sahhar & Ravi Savarirayan & Supriya Raj & Nicky M. Kilpatrick & Laura E. Forrest
Received: 1 September 2013 / Accepted: 22 January 2014 # Springer-Verlag Berlin Heidelberg 2014
Abstract Despite being the most common congenital facial anomaly, little is understood about the genetic contribution to isolated clefts of the lip with or without cleft palate (CL/P). ‘OzCleft’, a family-based genotype/phenotype study, is investigating this further. Participation for families involves various clinical investigations of the child with the cleft, and their unaffected sibling(s) and parents. Informal feedback from individuals involved in OzCleft suggested that participation in this research programme had benefits for families. Taking a qualitative approach, this study sought to investigate this hypothesis further. Semi-structured in-depth interviews were conducted with nine parents who had participated in OzCleft. All parents described participation as a positive experience for themselves and their families. Perceived benefits included a greater appreciation of the cleft treatment experience by unaffected family members. Being involved in a genetic study raised issues for parents regarding the cause of clefting in their child. While some parents found the possibility of a genetic component reassuring, it also raised questions about the potential implications for future generations. Parents were largely unsure about how to communicate this information to their L. J. Donoghue : M. A. Sahhar : N. M. Kilpatrick Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia M. A. Sahhar : R. Savarirayan Victorian Clinical Genetics Services, Royal Children’s Hospital, Parkville, VIC, Australia R. Savarirayan : S. Raj : N. M. Kilpatrick : L. E. Forrest Murdoch Childrens Research Institute, Flemington Road, Parkville, VIC, Australia L. E. Forrest (*) Familial Cancer Centre, Peter MacCallum Cancer Centre, 10 St Andrews Place, East Melbourne, VIC 3002, Australia e-mail: [email protected]
children and the predictive value of this information. This study suggests a lack of genetic understanding and/or perceived value of genetic information by parents of children with CL/P that, in turn, highlights the need for increased support from genetic health professionals in this area. Keywords Cleft lip with or without cleft palate . Research participation . Genetic information . Family communication
Introduction Despite being the most common congenital facial anomaly, little is known about the aetiology of isolated cleft lip with and without cleft palate (CL/P). CL/P is understood to be a multifactorial trait; however, the specific genes and/or environmental exposures that contribute to the condition are unclear (Saikrishna et al. 2011). A growing body of literature suggests that CL/P is not the binary trait as was previously understood, but
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