The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study

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.

“It’s being part of the big picture, even though you’re a tiny jigsaw piece”—motivations and expectations of individuals participating in the Enroll-HD observational study

“…Another beneficial outcome of participation was an improved understanding and awareness of the condition, which has also been previously reported (Donoghue et al 2014 ). Through research participation, individuals can access information that is perhaps in a more comprehensible and less intimidating format than they would find elsewhere.…”

“…Two other studies examining research participation have observed similar outcomes. Families of children with a cleft lip and palate found that participating in research had given the unaffected parents and siblings a greater appreciation of what the affected child experiences (Donoghue et al 2014 ), while some participants involved in a study regarding endometriosis discussed how involvement in research provided an opportunity to talk openly about the condition within the family and brought relatives closer (Treloar et al 2007 ). Taken together, these results further suggest that, particularly when regarding a genetic condition, unaffected relatives can benefit from research participation as much as patients can.…”

“…Several studies have also found that many participants are driven to take part because of some form of personal gain (Grant 2015 ; Tishler and Bartholomae 2002 ). Participating could also be a way of gaining more information about their condition (Donoghue et al 2014 ; Treloar et al 2007 ) or provide an opportunity to talk with others similarly affected (Trottier et al 2013 ). Others may be participating in the hopes of receiving better medical care, through increased access to medical professionals and a more regular assessment of their condition or by trialling new, potentially effective, therapeutics (Luchtenberg et al 2015 ).…”

Neurologic disturbances in children with cleft lip and cleft palate

“…входят в состав врожденных генетически обусловленных синдромов, которых насчитывается более 300. При этом различие между синдромными и не-синдромными РГН нечеткое: в семьях с синдромными РГН у некоторых членов семьи выявляются только орофациальные расщелины из-за переменной клинической экспрессии генетически обусловленного синдрома; в то же время более чем у 20% пациентов с несиндромными РГН при тщательном обследовании можно выявить другие врожденные аномалии [1,[3][4][5][6][7][8][9][10].…”

“…Такие больные нуждаются в постоянном ортодонтическом лечении до 18-20-летнего возраста и в последующем сложном протезировании. Анатомические и функциональные дефекты создают постоянные трудности в речевой и психологической реабилитации пациентов с РГН и, следовательно, в их социальной адаптации [1,3,6,8,[10][11][12][13][14].…”