Philosophy

The goal of Medical Genetics is to diagnose conditions, manage their manifestations and help families understand how to prevent problems. This is the same as every other branch of medicine. The difference is that Medical Genetics involves the extended family and the diagnoses can be important for children who are not even born yet.

If your child has many different medical problems, he or she may have many different doctors – one for the heart, one for the intestine, one for developmental problems, etc. A Medical Geneticist tries to pull all the problems back together to find one underlying cause.

Tests

There are always tests that can be done. Some are blood tests, some are urine tests and some are done on other samples. Having a test result can be both good and bad.

When a test result shows the genetic abnormality

Good: It pinpoints the reason behind the problems and gives you a way to talk about the condition. It provides information that can be used in testing other family members and in planning a family.

Bad: It does not mean that there is anything special to do.

When a test result does not show the genetic abnormality

Good: It does not prevent us from helping you or your child. It will still be possible to talk about the chance that the condition will happen again in the family.

Bad: It may make you feel that there is information missing, even if nothing has changed.

Treatments and “cures”

Unfortunately, we only have specific treatments for a few genetic diseases. Most of the time, the treatment that a patient receives is based on their symptoms alone. There is no cure for genetic diseases at this time. There is no way to go in a change a gene that does not work, to put in a gene that is missing, or to take out any extra genetic material that may be present.