As we have discussed, carrier screening tests are very useful for some couples who wish to conceive a child. In this article, we’ll answer the most frequently asked questions. This will give you a better understanding of how a genetic screening test can change your life.
“Can I still be at risk of being a carrier if I don’t have a family history of genetic disease?”
Most of the time, people with a genetic disease are unaware that there are carriers of a recessive disease in the family since they are not symptomatic. Both parents must be carriers of the same disease to be at risk of having a child with this disease. It is therefore not uncommon to see several generations of carriers in a family without having an affected child. It is therefore not possible to rely solely on known family history to rule out this possibility.
“Can the region I come from make me more at risk?”
Certain genetic diseases are more common in certain regions of the world. In Quebec, there are a few recessive diseases that are more common in families in the Saguenay—Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord regions. People of descent Ashkenazi Jewish are also more likely to be carriers of other recessive diseases. Although the traditional approach to carrier testing has been based on family history or regional/ethnic origin, research shows that if people are tested more broadly, we identify more couples at risk of having a child with a hereditary disease. This study (Peyser 2019) compared screening approaches and found that 29.4% of their population carried a recessive disease when they were tested extensively, compared to only 8.5% who would have been identified if they had only used ethnicity-based screening.
“Do I need genetic counselling?”
Yes. We recommend that you meet with a genetic counselor who can assess your risk and explain your options in detail. Indeed, many options are available and many diseases can be tested; that’s why you need to know which genetic test is best for you, and understand beforehand what can (and cannot) be tested. You will also better understand what kind of outcomes are possible and what the implications of those outcomes are for your life. We’re here to help you understand and navigate the process. We will meet with you once we have the result and send a copy to both of you and your doctor along with a letter explaining the result and the implications.
This article does not answer your questions or do you have other concerns about your genetic health? Contact us and it will be our pleasure to assist you!