Many medical conditions are caused by changes in genes. Sometimes these changes are passed in a family from a parent to a child. Sometimes, changes in genes are brand new. This means the change has happened for the first time in a family and was not passed down from a parent.
Your family’s health history (or pedigree) is a very important tool for figuring out whether genetic changes that cause medical problems are being passed on in your family. In some families, there may be a pattern of health problems that could suggest a genetic condition is running in the family. Sometimes, it can be tricky to figure these out. Genetics specialists (such as medical geneticists and genetic counselors) are trained to look for these patterns.
Depending on the medical concern, there may be specific things a genetics specialist may ask you about your family history. However, there are some patterns that tend to go along with some genetic conditions:
The physical examination may include several things, including:
Sometimes there may only be one person with the medical condition and no one else in the family may seem to have a similar one. Even in this case, the cause of the medical condition still may be genetic.
Depending on what symptoms you or your family member may have, your healthcare provider will ask more detailed questions during your appointment to determine if genetic testing is an option for you to consider. A genetics specialist is there to help you through the process.