Genetic testing is a very valuable resource, although, sometimes it’s not always the easiest testing to obtain. In my experience, for Alagille syndrome (ALGS), obtaining insurance approval and finding a place to complete the genetic testing were both difficult.

It was a huge stressor for me. There were very limited resources to help us find a center that would allow us to complete the testing. Our nearby children’s hospital was unable to complete the genetic testing for my husband and me because we were not under 18. They advised us to reach out to our local hospital for recommendations. 

Upon reaching out to the insurance company, I was advised that in order for us to complete genetic testing, we had to obtain insurance approval. To obtain the approval, we had to go through a routine physical and screening process with our primary care physician.  We scheduled our appointments and were each seen individually. We explained the situation with our son, but of course, as we were discussing ALGS he had to Google it and do a few quick reads to find out more information. We were able to get our physicals completed with the lab slips and letter of recommendation for the testing.

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What I find baffling is that the insurance company said we’re only able to get insurance approval to complete genetic testing if we stated that it was needed for family planning purposes. If my husband and I decided that we were done having children but wanted to know if either of us had ALGS to take control of our own health, we would have to pay an exorbitant fee out of pocket for the testing with no insurance coverage.

It blows my mind that in order to find out if we had this disease as well so that we could have the proper workups and medical care to ensure we lived a healthy life it would not be covered. There was a 50 percent chance that our son inherited the gene from one of us and we were not 100 percent sure we were done having children, so we decided to move forward.  

After we were approved for the genetic testing, we had to find a location. We had to call several places but they would not do the testing because they were unfamiliar with the disease.

I finally found a local hospital that would do the genetic testing, but we had to meet with genetic counselors before we were able to complete the test. I felt that it was unnecessary to do so as we had already done this at the Children’s Hospital with a well-versed ALGS team and we understood the disease. 

The team of counselors we met with did not understand much about ALGS. They even informed us that if one of the tests came back with a gene mutation, my son likely would be “fine” since we nor anyone in our family has had a liver transplant. We know that this is not the case with ALGS as every case is not like another.

Finally, we were given the option to complete the testing by a blood draw or saliva collection. We turned in the tests and had to wait between 4-6 weeks for the results. They called us upon receiving the results, as well as sending test results via mail for our medical records. We discovered my husband has the same JAG1 mutation as my son. 

While we were happy to get clear answers, it was very difficult and frustrating to try to obtain genetic testing. I wish the process was more streamlined for families who need testing. It would have been helpful for the hospital to have a list of centers that have the capability to handle genetic testing for families of rare diseases. And it would have been even more helpful for the genetic counselors to be able to chat with one another, but I know there are HIPAA regulations that probably prohibit that.

Lastly, insurance companies need to be easier to work with.  People should not be penalized for finding out they might have an underlying health condition. Upon finding out there is a possible genetic condition, they should not have to pay the full cost out of pocket to explore findings. Instead, they should feel empowered to take the necessary steps to ensure they live as healthy of a life as possible.