A few key things to keep in mind whenever you are discussing or researching anything related to genetics:
As much as scientists, doctors, and other medical professionals know, there is a lot more we don’t know.
New discoveries in genetics are taking place everyday. What is known today could change a week from now.
Just because we can find mutations does not mean we know their significance. With today’s developing technologies, we can find small changes in the genome we were never able to see before. The problem is, we don’t know what many of them mean. These genetic changes could be completely neutral and have no effect; or they could be the reason behind a medical problem. A lot of research needs to be done on many of these findings before we can make any type of diagnosis.
A family history is sometimes more important then a genetic test in determining risks for a disease. A family history, or pedigree, is an integral part of the genetic counseling process, and very useful in risk determination. There are factors you may be asked about that do not seem necessary such as ethnic background, relatedness of your families, miscarriages, or other birth defects in any family members; however, these are very important for us to know.
Not all doctors are familiar with genetics or know how to order or interpret genetic tests. Most physicians were not trained in genetic testing and they do not know what to do when genetic test results come back. A good physician will refer a patient to a Genetics Clinic if her or she thinks there is a genetic basis behind an illness or disorder. It is important to understand that bringing genetic results to any doctor will not ensure that you will be provided with the correct information or proper counseling.
As more points come up, I will be adding them to this list. But for now, let me know if you have any questions.