From the Research
You should schedule an appointment with your primary care physician to discuss genetic testing for leukodystrophy, as it is a hereditary condition and your father's history puts you at potential risk. Leukodystrophies are a group of rare genetic disorders that affect the development or maintenance of the brain's white matter. The testing process typically involves a blood sample for DNA analysis, and early detection is valuable as it can inform medical management and family planning decisions. According to a study published in 2019 1, whole exome sequencing can impact patient management, and almost all participants had at least one difference in medical management and/or genetic counseling options following testing.
Key Considerations
- Genetic counseling is recommended before and after testing to help understand the implications of results, as noted in a commentary on early experiences with consumer-driven whole exome and whole genome sequencing 2.
- Your health insurance may cover genetic testing when there's a documented family history, but it's advisable to check with your provider beforehand.
- A study published in 2020 3 highlights the importance of family history in identifying an individual's risk for primary cancer and assessing risk for a second primary cancer, which can inform decisions about genetic testing.
Next Steps
- Schedule an appointment with your primary care physician to discuss genetic testing and referral to a medical geneticist or neurologist specializing in genetic disorders.
- Prepare for your appointment by gathering information about your family history, including your father's specific type of leukodystrophy and any other relevant medical history.
- Consider discussing genetic counseling options with your primary care physician or a medical geneticist to understand the implications of testing and results.