If you have a personal or family history of a known or potential genetic condition, you may already have a good understanding of the condition and how it is passed on. Other times, genetic conditions and inheritance patterns can be complex and difficult to understand. When planning a family, you may be interested in discussing your family history to determine if you or your offspring are at increased risk for a genetic condition. This information can be reviewed in a genetic counseling visit, along with a discussion of what testing is available, who is appropriate for testing, what the results will tell you, reproductive options that are available and more.
Some conditions and diseases are caused by a genetic mutation, which is a change in a gene that impacts its function. Examples of inherited conditions include hereditary cancer conditions (BRCA, Lynch syndrome, FAP), Huntington disease, neurofibromatosis, cystic fibrosis, Tay-Sachs disease, and sickle cell disease.
Numerous conditions are caused by combined environmental and genetic factors and other conditions may have no known cause at this time. Gathering a complete and accurate family medical history is important as the field of genetic medicine continues to evolve. In some cases, identification of at-risk diseases may lead to early surveillance and potential treatment.
If you have had genetic counseling before, please keep in mind that genetic tests and options are continuously changing. A genetic counselor is your resource for the most up-to-date information.
Helpful information to collect regarding your family history:
- Results of genetic testing performed – positive or negative results
- Significant medical problems
- Early onset of a disorder (cancer, kidney disease, neurologic disease, heart disease, vision or hearing loss, etc.)
- Young/early deaths due to known or unknown medical conditions
- Cancer diagnoses – type of cancer and age at which it was diagnosed
- Any physical findings that stand out (tall or short stature compared to the rest of the family, skin differences, etc.)
- Intellectual disability, developmental delay, autism
- Birth defects
- Multiple pregnancy losses or babies who died in infancy
We conceived our daughter when we were newly married, no problems at all, actually were not even trying. When she turned about 20 months old, we started to try and conceive again. After months of trying with no luck, we sought our general...