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 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.
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Acknowledgement
Ms Donoghue completed this study in partial fulfilment of the requirements of the Master of Genetic Counselling, University of Melbourne. This work was supported by the Victorian Government’s Operational Infrastructure Support Program. The OzCleft Study is funded by the National Health and Medical Research Council of Australia (Project Grant No 607396).
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Conflict of interest Lynley Donoghue, Margaret Sahhar, Ravi Savarirayan, Supriya Raj, Nicky Kilpatrick and Laura Forrest declare they have no conflict of interest.
Statement on human rights All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
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Donoghue, L.J., Sahhar, M.A., Savarirayan, R. et al. The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study. J Community Genet 5, 249–256 (2014). https://doi.org/10.1007/s12687-014-0183-3
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DOI: https://doi.org/10.1007/s12687-014-0183-3