There are four basic questions that most families are looking to answer when they pursue genetic testing. These questions are in a different order of priority for different families (and at different points in time for a single family). A knowledgeable physician and/or genetic counselor will be able to help you interpret molecular genetic test results and help answer these questions:
- Is the diagnosis correct? Is the name that our doctor has chosen to use to describe the disease in our family close enough to correct that most of the things we read about this condition and hear from other people really apply to us? Is it possible that there could be something our doctor is missing? Something (God forbid!) even worse?
- What can we expect? What will eventually happen to my child's vision? What should I be doing for him or her in school? What kind of job will he or she be able to do as an adult?
- Is there some treatment that we can have right now that will result in a better outcome for my child? OK, if not right now, is there some treatment that will eventually improve my child's vision? If so, when?
- What is the likelihood that any of our other children (existing or planned) will be similarly affected? What about our children's children? Is there anything we can do to lessen the risk of having another affected child?
Source: Dr. Edwin Stone, The John & Marcia Carver Nonprofit Genetic Testing Laboratory at the University of Iowa.
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