European Journal of Medical Genetics vol:58 issue:4 pages:249-57
The clinical application of new genetic technologies will be and already is of great benefit to children with unexplained developmental disabilities or congenital anomalies. In most cases, it will be their parents who, together with medical professionals, make decisions about what should be disclosed and how the information will be used. We conducted eight exploratory focus group discussions with stakeholders to provide a broad sketch of concerns and ideas around the communication of results from next-generation sequencing technologies involving children. Stakeholders included those with (grand-) children of various ages and those without children; those involved professionally with genetics and those who were not; and a range of ages. Participants were asked to focus on which secondary variants they would and would not want disclosed about their (hypothetical) children or themselves. While the literature often concentrates on the medical and scientific characteristics of secondary variants, focus group participants were also interested in factors involving the parent-child relationship and the broader context. This resulted in more flexibility surrounding the types of secondary variants disclosed to parents than much of the literature currently supports. In addition, participants would on occasion use the same factors to argue opposing positions. The "Family Illness Paradigms model" can help explain this seeming contradiction. This model emphasises the importance of how the family reacts to personal and family experiences of disease and loss, more than the fact of having these experiences.