Genetic counseling is a new profession even in the United States. The majority of the genetic counselor, after they graduate from a credential program, will go to work in hospitals or medical centers. Non-conventional genetic counselors work in diagnostic laboratories, pharmaceutical companies, insurance companies as well as government. I belong to one of the non-conventional genetic counselors. My job on a daily basis is to help our clients, physicians and clinical genetic counselors navigate into the complex genetic testing including testing methodology and results. I am very pleased that I am doing a fairly good job in a short time. Here is a story.A couple days ago, we received a test request a stepwise testing for recessive OI panel including 7 genes. They indicated that if the first gene was negative, reflex to the next most common gene in the panel. When I saw this request, 3 questions popped into my head. 1) All those genes in the OI recessive panel are rare. It is difficult to say which one is the most common or the least common; 2) if testing is performed in a stepwise manner, the cost would be much higher than that as a panel; 3) since 95% of OI cases are dominant, why the client requested recessive instead? Even the family history is negative, 50% of the chance a person carries a de novo mutation. Maybe they have a good reason to order recessive OI. I called the clinical GC on this case and raise my questions and concerns. Apparently, they failed to realize that dominant OI is more common. Nor have they been aware of the increased cost of sequential testing. Not surprisingly, they completely changed their request from recessive OI to dominant OI panel. Today a published mutation in one of the dominant OI genes was identified in this patient. The moment I found this news, the first thing popped into my head was a lab GC is important. I am so proud of being a lab GC. Call it a day.
