Dimensions of illness presented in the vignettes
| Dimensions of illness | ||||
|---|---|---|---|---|
| Likelihood of development | Clinical severity | Timing of clinical onset | Treatment/prevention options | |
| Genomic disorders | ||||
| Duchenne muscular dystrophy (DMD) | Lower in girls Higher in boys | High | Childhood onset | Surveillance |
| Learning Difficulty | Variable likelihood | Low to high | Early | Treatable |
| Huntington's Disease | High | High | Adult onset | Untreatable |
| Carrier cystic fibrosis (CF) | No risk of disease | NA | NA* | 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.