Table 1

Dimensions of illness presented in the vignettes

Dimensions of illness
Likelihood of developmentClinical severityTiming of clinical onsetTreatment/prevention options
Genomic disorders
 Duchenne muscular dystrophy (DMD)Lower in girls
Higher in boys
HighChildhood onsetSurveillance
 Learning DifficultyVariable likelihoodLow to highEarlyTreatable
 Huntington's DiseaseHighHighAdult onsetUntreatable
 Carrier cystic fibrosis (CF)No risk of diseaseNANA*Reproductive/family planning
Spectrum of issues
Who?Who should communicate the incidental findings to you? Why?
How?How would you like to receive that information?
What?Would you like to know these incidental findings? Why?
Responsibility?Do you have a responsibility to tell other family members (of this incidental finding) who might carry a risk for the condition?
Who do you think has a responsibility to meet other family members to explain the risk of transmission?
Benefits/Risks?What kind of additional problems (besides your child's health) can you foresee in receiving this incidental finding?
Psychosocial aspects?What would be the emotions and feelings involved in receiving this incidental finding? Do you think there is a need for social support? Who should provide this support?
  • *In general, carrier status implies that the individual does not have symptoms nor will he/she develop the disease, but such status has reproductive implications for the parents, his/her siblings or for the child when an adult.