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Genetic Testing: To Test or Not To Test
At the end of every consult, I discuss the different tests that I want to order for my fertility patients … specialized ultrasounds, hormone tests, a semen analysis. In most patients, I also offer genetic screening. Patients often give me quizzical looks … is something wrong in my genes? Is my (future) baby at risk? I start by giving the standard answers --- what diseases we test for, which populations are at risk, and what we can do when we find something. But all this has me thinking --- would I recommend these tests for myself and family?
The answer is a most resounding yes - I would (and have) done advanced genetic screening on myself - and here’s why:
A basic genetic screening primer
Genetic screening involves testing the blood for small alterations (mutations) in the genetic code (DNA) that can result in disease. Such diseases are usually recessive, meaning that the person does not (and will not) have the disease, but could pass it on to a child. Others are dominant, meaning that the person may develop the disease and risk passing it on to a child.
As technology has advanced, we can now screen for many mutations for different diseases. At last count, our genetic panel screens for 398 mutations associated with 100 diseases --- a far cry from the 5 or 10 diseases we could screen for just a few years ago!
Why does genetic screening matter?
I often find, the benefits of these tests (more information) are the same as the problems (knowing more information)! Knowing if I was a carrier for “Carnitine Palitoyltransferase IA Deficiency” may mean very little, as there is an incredibly low chance of having an affective child (only 50 cases identified worldwide!) and I am not in a high risk ethnic group (Hutterite people in the northern United States and Canada or the Inuit people of northern Canada, Alaska, and Greenland). However, if I was a carrier for Cystic Fibrosis, a very serious and relatively common condition in my ethnic group, I would do everything I could to reduce my risk of passing it on to my child.
Like many decisions that we make together, the decision to perform genetic testing is based on the patient’s individual situation, goals, and understanding. If so desired, genetic testing can give a patient more understanding of her own body and potentially prevent transmission of disease to her child.