You may have your mother’s eyes or her freckles. Or maybe your father’s hair or his dimples. What our parents pass on to us is a source of fascination, but it is also science.
Each child receives the same amount of genes from the mother and father. It’s a 50/50 split. So why when couples are planning to have a child, are more women than men undergoing genetic carrier screening? Men, let’s move on to the plate.
Each child receives the same amount of genes from the mother and father. It’s a 50/50 split. So why when couples are planning to have a child, are more women than men undergoing genetic carrier screening? Men, let’s move on to the plate.
Carrier screening is a genetic test that determines whether you carry a variant (change) in a gene that could have implications for your children. Being a carrier usually doesn’t affect your health, typically carriers don’t even know they are a carrier. But if both you and your partner carry the same condition, there is a 25% chance of having a child with the condition and a 75% chance of having an unaffected child. These are independent probabilities for each pregnancy, so there’s a 25% chance each time and a 75% chance each time.
You can see why it’s important for men to get tested, they put on as much genetic makeup as a woman. Just because the woman is the one carrying the baby doesn’t mean she should be the one to undergo carrier screening.
Estie Rose, a certified genetic counselor at JScreen, a non-profit genetic testing program based at Emory University, explains that in the early days of carrier screening, testing was usually done only for the female partner for a small number of conditions based on his or her ethnic origin. For example, if she had an Ashkenazi background, she would have been selected for the Ashkenazi panel, which included diseases more common in this group such as Tay Sachs. Then, only if she tested positive was the male partner tested.
The advent of saliva testing makes carrier screening much easier to administer through home testing.
Since tests were much more expensive at the time, this test model made sense. But now that the technology has progressed and become much more accessible and affordable, the partners can be tested at the same time. Additionally, the advent of saliva testing makes carrier screening much easier to administer through home testing. Carrier screening using saliva is as accurate as using blood.
The breadth of diseases screened for has also increased, allowing people to have a more complete understanding of their carrier status. Instead of only being tested for diseases that are most common in their ethnic origin, a larger network is created to include a greater number of diseases common across ancestry groups.
Daniella Kamara, a licensed genetic counselor at UCLA’s David Geffen School of Medicine and a consultant for GeneTestNow, a nonprofit outreach and education organization that the Jewish Journal helped launch and market, explains this approach. We have gone from the idea of testing individuals based on their ancestry to conducting pan-ethnic panels on everyone. Today’s technology is built in such a way that looking at one gene and looking at 200 genes are the same thing. So generally speaking, in today’s world of genetics, anyone who walks in the door for carrier screening gets a pan-ethnic panel that usually looks at over 200 genetic conditions that are common across all different ancestries and exist in the population. For example, we know that although Tay Sachs, yes, is more common in Ashkenazi Jews, there are many people who are not Ashkenazi Jews who are also Tay Sachs carriers. And the same goes for other diseases as well.
This approach also addresses the growing mix of the population, not only with interfaith couples, but also marriage within the Jewish community between individuals of Sephardic, Mizrahi, Persian and Ashkenazi ancestry.
What if you’ve already had a genetic test with a company like 23andMe? Does that mean you don’t need further carrier screening? Rose argues that these direct-to-consumer tests are fine for purposes like learning what your ancestry is all about or if you have genetic traits like coriander that tastes like soap. But these tests shouldn’t be used to make medical decisions.
While these services might include carrier information as part of the testing package, the number of diseases in their panel is limited. Also, a report is presented without the benefit of a genetic counselor to help you navigate the results. What does it mean to be a carrier if you are? What does a positive result mean? What are your options? With these ancestry tests, you are on your own. Any medical grade genetic testing should be performed by a certified laboratory and genetic counseling should be included. Genetic counselors are trained to interpret genetic results and convey them in a way that laymen can understand, Rose adds.
So if you’re thinking of becoming a father or know someone who is, remember that it takes two to tango. And both tango partners need carrier screening. Happy Father’s Day.
For more information on genetic carrier screening, visit genetestnow.com.
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